# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 611 NC_000007.13:g.128412109_128412110delTT;NG_009094.1:g.8735_8736delAA;NM_001708.2:c.*484_*485delAA 500013014 201424020 20110316_indels_chr7_128412108_128412109 6.27e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412111_128412117delTTTTTTG;NG_009094.1:g.8728_8734delCAAAAAA;NM_001708.2:c.*477_*483delCAAAAAA 500013018 199836652 20110316_indels_chr7_128412110_128412116 2.05e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128412115T>G;NG_009094.1:g.8730A>C;NM_001708.2:c.*479A>C 2519479 1688906 AC024952.3_120799 2000.11.03 2003.10.10 2000.11.09 2011.07.08 137 SC_JCM 611 NC_000007.13:g.128412115T>G;NG_009094.1:g.8730A>C;NM_001708.2:c.*479A>C 3814566 1688906 AC074373.2_106633 2001.09.25 2003.10.10 2000.11.09 2011.07.08 137 HGSV 611 NC_000007.13:g.128412115T>G;NG_009094.1:g.8730A>C;NM_001708.2:c.*479A>C 85584766 1688906 Cor19129_SNV_20070510.chr7_128006066 2007.12.09 2007.12.09 2000.11.09 2011.07.08 137 SC_JCM 611 NC_000007.13:g.128412116_128412117delTGinsC;NC_000007.13:g.128412116_128412117delTGinsG;NC_000007.13:g.128412116_128412117delTGinsT;NG_009094.1:g.8728_8729delCAinsA;NG_009094.1:g.8728_8729delCAinsC;NG_009094.1:g.8728_8729delCAinsG;NM_001708.2:c.*477_*478delCAinsA;NM_001708.2:c.*477_*478delCAinsC;NM_001708.2:c.*477_*478delCAinsG 2519478 1688905 AC024952.3_120797 2000.11.03 2003.10.10 2000.11.09 2012.05.16 137 SC_JCM 611 NC_000007.13:g.128412116_128412117delTGinsC;NC_000007.13:g.128412116_128412117delTGinsG;NC_000007.13:g.128412116_128412117delTGinsT;NG_009094.1:g.8728_8729delCAinsA;NG_009094.1:g.8728_8729delCAinsC;NG_009094.1:g.8728_8729delCAinsG;NM_001708.2:c.*477_*478delCAinsA;NM_001708.2:c.*477_*478delCAinsC;NM_001708.2:c.*477_*478delCAinsG 3718156 1688905 AC024952.4_56520 2001.09.25 2003.10.10 2000.11.09 2012.05.16 137 TSC-CSHL 611 NC_000007.13:g.128412116_128412117delTGinsC;NC_000007.13:g.128412116_128412117delTGinsG;NC_000007.13:g.128412116_128412117delTGinsT;NG_009094.1:g.8728_8729delCAinsA;NG_009094.1:g.8728_8729delCAinsC;NG_009094.1:g.8728_8729delCAinsG;NM_001708.2:c.*477_*478delCAinsA;NM_001708.2:c.*477_*478delCAinsC;NM_001708.2:c.*477_*478delCAinsG 4089935 1688905 TSC1777335 2001.10.02 2003.10.10 2000.11.09 2012.05.16 137 TSC-CSHL 611 NC_000007.13:g.128412116_128412117delTGinsC;NC_000007.13:g.128412116_128412117delTGinsG;NC_000007.13:g.128412116_128412117delTGinsT;NG_009094.1:g.8728_8729delCAinsA;NG_009094.1:g.8728_8729delCAinsC;NG_009094.1:g.8728_8729delCAinsG;NM_001708.2:c.*477_*478delCAinsA;NM_001708.2:c.*477_*478delCAinsC;NM_001708.2:c.*477_*478delCAinsG 4089936 1688905 TSC1777336 2001.10.02 2003.10.10 2000.11.09 2012.05.16 137 SEQUENOM 611 NC_000007.13:g.128412116_128412117delTGinsC;NC_000007.13:g.128412116_128412117delTGinsG;NC_000007.13:g.128412116_128412117delTGinsT;NG_009094.1:g.8728_8729delCAinsA;NG_009094.1:g.8728_8729delCAinsC;NG_009094.1:g.8728_8729delCAinsG;NM_001708.2:c.*477_*478delCAinsA;NM_001708.2:c.*477_*478delCAinsC;NM_001708.2:c.*477_*478delCAinsG 24802357 1688905 sqnm164431 2004.06.18 2004.08.05 2000.11.09 2012.05.16 137 GMI 611 NC_000007.13:g.128412117G>T;NG_009094.1:g.8728C>A;NM_001708.2:c.*477C>A 279528771 200926962 GMI_AK_SNP_3849018 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 611 NC_000007.13:g.128412118delT;NC_000007.13:g.128412118delTinsTT;NC_000007.13:g.128412118delTinsTTTTTTTTTTTGTTTTG;NG_009094.1:g.8727delA;NG_009094.1:g.8727delAinsAA;NG_009094.1:g.8727delAinsCAAAACAAAAAAAAAAA;NM_001708.2:c.*476delA;NM_001708.2:c.*476delAinsAA;NM_001708.2:c.*476delAinsCAAAACAAAAAAAAAAA 99377651 71660376 INDEL_GP36_2007a_173648_0 2008.05.05 2008.05.05 2009.02.13 2012.05.16 137 DEVINE_LAB 611 NC_000007.13:g.128412118delT;NC_000007.13:g.128412118delTinsTT;NC_000007.13:g.128412118delTinsTTTTTTTTTTTGTTTTG;NG_009094.1:g.8727delA;NG_009094.1:g.8727delAinsAA;NG_009094.1:g.8727delAinsCAAAACAAAAAAAAAAA;NM_001708.2:c.*476delA;NM_001708.2:c.*476delAinsAA;NM_001708.2:c.*476delAinsCAAAACAAAAAAAAAAA 102604004 71660376 INDEL_GP36_2008a_1729622_0 2008.05.18 2008.05.18 2009.02.13 2012.05.16 137 TSC-CSHL 611 NC_000007.13:g.128412119_128412120insA;NC_000007.13:g.128412119_128412120insT;NG_009094.1:g.8725_8726insA;NG_009094.1:g.8725_8726insT;NM_001708.2:c.*474_*475insA;NM_001708.2:c.*474_*475insT 4089937 2896408 TSC1777337 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 TSC-CSHL 611 NC_000007.13:g.128412120_128412121insC;NC_000007.13:g.128412120_128412121insT;NG_009094.1:g.8724_8725insA;NG_009094.1:g.8724_8725insG;NM_001708.2:c.*473_*474insA;NM_001708.2:c.*473_*474insG 3367514 2402936 TSC1630796 2001.09.20 2003.10.10 2001.09.28 2011.07.08 137 TSC-CSHL 611 NC_000007.13:g.128412122_128412123insG;NC_000007.13:g.128412122_128412123insT;NG_009094.1:g.8722_8723insA;NG_009094.1:g.8722_8723insC;NM_001708.2:c.*471_*472insA;NM_001708.2:c.*471_*472insC 4089938 2896409 TSC1777338 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 TSC-CSHL 611 NC_000007.13:g.128412123_128412124insA;NC_000007.13:g.128412123_128412124insT;NG_009094.1:g.8721_8722insA;NG_009094.1:g.8721_8722insT;NM_001708.2:c.*470_*471insA;NM_001708.2:c.*470_*471insT 4089939 2896410 TSC1777339 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 TSC-CSHL 611 NC_000007.13:g.128412124_128412125insG;NC_000007.13:g.128412124_128412125insT;NG_009094.1:g.8720_8721insA;NG_009094.1:g.8720_8721insC;NM_001708.2:c.*469_*470insA;NM_001708.2:c.*469_*470insC 4089940 2896411 TSC1777340 2001.10.02 2003.10.10 2001.11.05 2011.07.08 137 DEVINE_LAB 611 NC_000007.13:g.128412128_128412129delTG;NG_009094.1:g.8716_8717delCA;NM_001708.2:c.*465_*466delCA 102451104 66758469 INDEL_GP36_2008a_2306557_0 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 611 NC_000007.13:g.128412128_128412129delTG;NG_009094.1:g.8716_8717delCA;NM_001708.2:c.*465_*466delCA 102451105 66758469 INDEL_GP36_2008a_2306557_1 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 TSC-CSHL 611 NC_000007.13:g.128412129G>T;NG_009094.1:g.8716C>A;NM_001708.2:c.*465C>A 3367515 2402937 TSC1630797 2001.09.20 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 611 NC_000007.13:g.128412129G>T;NG_009094.1:g.8716C>A;NM_001708.2:c.*465C>A 11904552 2402937 chr7.NT_007933.12_53588278 2003.07.04 2003.10.10 2001.09.28 2012.11.28 137 HGSV 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 80777730 58253064 Cor12878_DIV_20070510.chr7_128006079-128006083_1 2007.11.26 2007.11.26 2007.12.15 2012.05.16 137 HGSV 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 82168906 58253064 Cor19129_DIV_20070510.chr7_128006079-128006081_1 2007.12.02 2007.12.02 2007.12.15 2012.05.16 137 HGSV 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 82580183 58253064 Cor19240_DIV_20070510.chr7_128006079-128006082_1 2007.12.03 2007.12.03 2007.12.15 2012.05.16 137 HGSV 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 83046863 58253064 Cor19240_DIV_20070510.chr7_128006079-128006082_2 2007.12.04 2007.12.04 2007.12.15 2012.05.16 137 DEVINE_LAB 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 100757118 58253064 INDEL_GP36_2008a_2484817_0 2008.05.17 2008.05.17 2007.12.15 2012.05.16 137 DEVINE_LAB 611 NC_000007.13:g.128412129delG;NC_000007.13:g.128412129delGinsGT;NC_000007.13:g.128412129delGinsGTT;NG_009094.1:g.8716delC;NG_009094.1:g.8716delCinsAAC;NG_009094.1:g.8716delCinsAC;NM_001708.2:c.*465delC;NM_001708.2:c.*465delCinsAAC;NM_001708.2:c.*465delCinsAC 101297066 58253064 INDEL_GP36_2008a_2266657_0 2008.05.17 2008.05.17 2007.12.15 2012.05.16 137 BGI 611 NC_000007.13:g.128412129G>T;NG_009094.1:g.8716C>A;NM_001708.2:c.*465C>A 104467571 2402937 BGI_rs2402937 2008.06.08 2009.06.18 2001.09.28 2012.11.28 137 GMI 611 NC_000007.13:g.128412129G>T;NG_009094.1:g.8716C>A;NM_001708.2:c.*465C>A 279528772 2402937 GMI_AK_SNP_3849019 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 WI_SSAHASNP 611 NC_000007.13:g.128412130T>G;NG_009094.1:g.8715A>C;NM_001708.2:c.*464A>C 11872972 7792925 chr7.NT_007933.12_53588279 2003.07.04 2003.10.10 2003.07.11 2011.07.08 137 BCMHGSC_JDW 611 NC_000007.13:g.128412134G>T;NG_009094.1:g.8711C>A;NM_001708.2:c.*460C>A 93764707 62479594 JWB-3237703 2008.03.05 2008.03.05 2008.03.25 2012.11.28 137 GMI 611 NC_000007.13:g.128412134G>T;NG_009094.1:g.8711C>A;NM_001708.2:c.*460C>A 279528773 62479594 GMI_AK_SNP_3849020 2010.12.16 2010.12.16 2008.03.25 2012.11.28 137 ABI 611 NC_000007.13:g.128412229_128412230insA;NG_009094.1:g.8615_8616insT;NM_001708.2:c.*364_*365insT 42952088 36090779 hCV33342208 2005.07.18 2005.07.18 2006.03.16 2011.07.08 137 GMI 611 NC_000007.13:g.128412229G>A;NG_009094.1:g.8616C>T;NM_001708.2:c.*365C>T 279528774 200681363 GMI_AK_SNP_3849021 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128412229G>A;NG_009094.1:g.8616C>T;NM_001708.2:c.*365C>T 482875265 200681363 HumanOmni2.5-4v1_D_kgp22824520-0_T_F_1860400179 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128412229G>A;NG_009094.1:g.8616C>T;NM_001708.2:c.*365C>T 485345785 200681363 HumanOmni2.5-4v1_B_SNP7-128199465-0_T_F_1649490840 2012.02.05 2012.02.05 2012.05.04 2012.11.28 137 HGSV 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 77903211 55912776 Cor12156_DIV_20070510.chr7_128006193-128006194_1 2007.10.15 2007.10.15 2007.12.06 2012.11.28 137 HGSV 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 81087034 55912776 Cor18956_DIV_20070510.chr7_128006193-128006194_1 2007.11.27 2007.11.27 2007.12.06 2012.11.28 137 HGSV 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 82692648 55912776 Cor19240_DIV_20070510.chr7_128006193-128006194_1 2007.12.03 2007.12.03 2007.12.06 2012.11.28 137 HGSV 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 82894141 55912776 Cor19240_DIV_20070510.chr7_128006193-128006194_2 2007.12.03 2007.12.03 2007.12.06 2012.11.28 137 HUMANGENOME_JCVI 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 95474742 55912776 1104685583690 2008.03.22 2008.12.03 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 99679320 55912776 INDEL_GP36_2007a_125476_0 2008.05.05 2008.05.05 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 99908954 55912776 INDEL_GP36_2007a_571345_0 2008.05.06 2008.05.06 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100668928 55912776 INDEL_GP36_2008a_2300713_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100668932 55912776 INDEL_GP36_2008a_2300713_1 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100784437 55912776 INDEL_GP36_2008a_1443961_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100842191 55912776 INDEL_GP36_2008a_2150799_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100842194 55912776 INDEL_GP36_2008a_2150799_1 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 100990050 55912776 INDEL_GP36_2008a_2280124_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 101305829 55912776 INDEL_GP36_2008a_571345_1 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 101658089 55912776 INDEL_GP36_2008a_1258506_0 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 101658090 55912776 INDEL_GP36_2008a_1258506_1 2008.05.17 2008.05.17 2007.12.06 2012.11.28 137 GMI 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 288871957 55912776 GMI_AK_INDEL_548846 2010.12.24 2011.12.26 2007.12.06 2012.11.28 137 PJP 611 NC_000007.13:g.128412230_128412231insA;NG_009094.1:g.8614_8615insT;NM_001708.2:c.*363_*364insT 295355785 55912776 DIP_793489_chr7_128199472 2011.01.23 2011.01.23 2007.12.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412316A>G;NG_009094.1:g.8529T>C;NM_001708.2:c.*278T>C 459980080 181395003 20101123_snps_6147310_chr7_128412316 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 611 NC_000007.13:g.128412618C>A;NG_009094.1:g.8227G>T;NM_001708.2:c.1023G>T;NP_001699.1:p.Ser341= 342246557 140568559 ESP2500-chr7-128412618 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412618C>A;NG_009094.1:g.8227G>T;NM_001708.2:c.1023G>T;NP_001699.1:p.Ser341= 488874195 140568559 20110521_exome_112218_chr7_128412618 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128412618C>A;NG_009094.1:g.8227G>T;NM_001708.2:c.1023G>T;NP_001699.1:p.Ser341= 491914702 140568559 SNV-chr7-128199854 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128412653A>T;NG_009094.1:g.8192T>A;NM_001708.2:c.988T>A;NP_001699.1:p.Cys330Ser 342246558 150426624 ESP2500-chr7-128412653 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128412692T>C;NG_009094.1:g.8153A>G;NM_001708.2:c.949A>G;NP_001699.1:p.Met317Val 334435687 143205154 20100804_snps_6079228_chr7_128412692 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412692T>C;NG_009094.1:g.8153A>G;NM_001708.2:c.949A>G;NP_001699.1:p.Met317Val 490953873 143205154 20110521_exome_461671_chr7_128412692 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 GMI 611 NC_000007.13:g.128412700A>G;NG_009094.1:g.8145T>C;NM_001708.2:c.941T>C;NP_001699.1:p.Ile314Thr 279528775 201497890 GMI_AK_SNP_3849022 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 CLINSEQ_SNP 611 NC_000007.13:g.128412710G>A;NG_009094.1:g.8135C>T;NM_001708.2:c.931C>T;NP_001699.1:p.Gln311Ter 491914703 200091747 SNV-chr7-128199946 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412759G>A;NG_009094.1:g.8086C>T;NM_001708.2:c.928-46C>T 459980081 184461423 20101123_snps_6147311_chr7_128412759 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412759G>A;NG_009094.1:g.8086C>T;NM_001708.2:c.928-46C>T 490953874 184461423 20110521_exome_461672_chr7_128412759 1.40e-03 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 SC_SNP 611 NC_000007.13:g.128412806A>G;NG_009094.1:g.8039T>C;NM_001708.2:c.928-93T>C 18236968 12112071 SC-CHR1_NA17109-200402.chr7.NT_007933.13_53588955 5.00e-03 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412806A>G;NG_009094.1:g.8039T>C;NM_001708.2:c.928-93T>C 223328630 12112071 pilot_1_YRI_5138313_chr7_128200042 5.00e-03 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 TSC-CSHL 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 2744441 1868774 TSC0867045 2.13e-01 2001.01.02 2004.05.17 2001.01.12 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 24447172 1868774 afd0600850 2.13e-01 2004.08.21 2004.09.13 2001.01.12 2012.11.28 137 ABI 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 44781140 1868774 hCV11625166 2.13e-01 2005.07.19 2005.07.19 2001.01.12 2012.11.28 137 AFFY 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 66440410 1868774 SNP_A-2189778 2.13e-01 2006.10.29 2007.08.14 2001.01.12 2012.11.28 137 AFFY 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 76221376 1868774 AFFY_6_1M_SNP_A-2189778 2.13e-01 2007.08.30 2010.03.07 2001.01.12 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 81605113 1868774 KHS112409 2.13e-01 2007.11.30 2007.11.30 2001.01.12 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 93764708 1868774 JWB-2372512 2.13e-01 2008.03.05 2008.03.05 2001.01.12 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 142922443 1868774 ENSSNP6262415 2.13e-01 2009.06.05 2009.06.05 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 162709312 1868774 NA07022_36_chr7_128200218 2.13e-01 2009.09.29 2009.09.29 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 167102329 1868774 NA20431_36_chr7_128200218 2.13e-01 2009.09.30 2009.09.30 2001.01.12 2012.11.28 137 AFFY 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 172863411 1868774 GenomeWideSNP_5_SNP_A-2189778 2.13e-01 2009.10.02 2009.10.02 2001.01.12 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 208263529 1868774 BCM_CMT_1011-1555551 2.13e-01 2010.03.19 2010.03.19 2001.01.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 223328631 1868774 pilot_1_YRI_5138314_chr7_128200218 2.13e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 234165031 1868774 pilot_1_CEU_3769660_chr7_128200218 2.13e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 241079108 1868774 pilot_1_CHB+JPT_2964185_chr7_128200218 2.13e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 GMI 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 279528776 1868774 GMI_AK_SNP_3849023 2.13e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 PJP 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 293964837 1868774 SNP_3471195_chr7_128200218 2.13e-01 2011.01.21 2011.01.21 2001.01.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 479387100 1868774 HumanOmni2.5-4v1_D_kgp10630281-0_T_F_1808609771 2.13e-01 2012.01.30 2012.01.30 2001.01.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128412982G>A;NG_009094.1:g.7863C>T;NM_001708.2:c.928-269C>T 485345787 1868774 HumanOmni2.5-4v1_B_SNP7-128200218-0_T_F_1615633001 2.13e-01 2012.02.05 2012.02.05 2001.01.12 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128413001T>C;NG_009094.1:g.7844A>G;NM_001708.2:c.928-288A>G 198260525 113569143 BUSHMAN-chr7-128200236 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 GMI 611 NC_000007.13:g.128413157G>C;NG_009094.1:g.7688C>G;NM_001708.2:c.928-444C>G 279528777 200879306 GMI_AK_SNP_3849024 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 611 NC_000007.13:g.128413169A>G;NG_009094.1:g.7676T>C;NM_001708.2:c.928-456T>C 334435688 146689090 20100804_snps_6079229_chr7_128413169 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128413247C>T;NG_009094.1:g.7598G>A;NM_001708.2:c.927+456G>A 234165032 117607581 pilot_1_CEU_3769661_chr7_128200483 6.40e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413258A>G;NG_009094.1:g.7587T>C;NM_001708.2:c.927+445T>C 459980082 189168873 20101123_snps_6147312_chr7_128413258 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128413308T>C;NG_009094.1:g.7537A>G;NM_001708.2:c.927+395A>G 223328632 116699212 pilot_1_YRI_5138315_chr7_128200544 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128413349A>T;NG_009094.1:g.7496T>A;NM_001708.2:c.927+354T>A 459980083 181833432 20101123_snps_6147313_chr7_128413349 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128413672G>T;NG_009094.1:g.7173C>A;NM_001708.2:c.927+31C>A 459980084 186484526 20101123_snps_6147314_chr7_128413672 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128413690T>C;NG_009094.1:g.7155A>G;NM_001708.2:c.927+13A>G 488874197 202221519 20110521_exome_112219_chr7_128413690 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128413726T>C;NG_009094.1:g.7119A>G;NM_001708.2:c.904A>G;NP_001699.1:p.Ile302Val 161096371 78532499 HumanOmni1-Quad_v1-0_B_SNP7-128200962-128_T_R_1587977766 6.40e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413726T>C;NG_009094.1:g.7119A>G;NM_001708.2:c.904A>G;NP_001699.1:p.Ile302Val 241079109 78532499 pilot_1_CHB+JPT_2964186_chr7_128200962 6.40e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128413726T>C;NG_009094.1:g.7119A>G;NM_001708.2:c.904A>G;NP_001699.1:p.Ile302Val 479198058 78532499 HumanOmni1-Quad_v1-0_C_kgp13754992-0_T_R_1828147993 6.40e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413726T>C;NG_009094.1:g.7119A>G;NM_001708.2:c.904A>G;NP_001699.1:p.Ile302Val 490953875 78532499 20110521_exome_461673_chr7_128413726 6.40e-03 2012.02.21 2012.02.21 2009.12.01 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128413726T>C;NG_009094.1:g.7119A>G;NM_001708.2:c.904A>G;NP_001699.1:p.Ile302Val 491405487 78532499 nonsyn_121713_chr_7_128413726 6.40e-03 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413774T>C;NG_009094.1:g.7071A>G;NM_001708.2:c.856A>G;NP_001699.1:p.Thr286Ala 334435689 140313670 20100804_snps_6079230_chr7_128413774 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128413774T>C;NG_009094.1:g.7071A>G;NM_001708.2:c.856A>G;NP_001699.1:p.Thr286Ala 342246559 140313670 ESP2500-chr7-128413774 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413774T>C;NG_009094.1:g.7071A>G;NM_001708.2:c.856A>G;NP_001699.1:p.Thr286Ala 490953876 140313670 20110521_exome_461674_chr7_128413774 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128413777C>A;NG_009094.1:g.7068G>T;NM_001708.2:c.853G>T;NP_001699.1:p.Val285Phe 161096372 79158266 HumanOmni1-Quad_v1-0_B_SNP7-128201013-0_T_F_1588071560 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128413777C>A;NG_009094.1:g.7068G>T;NM_001708.2:c.853G>T;NP_001699.1:p.Val285Phe 479314099 79158266 HumanOmni1-Quad_v1-0_C_kgp22844592-0_T_F_1862717652 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128413777C>A;NG_009094.1:g.7068G>T;NM_001708.2:c.853G>T;NP_001699.1:p.Val285Phe 491405488 79158266 nonsyn_121714_chr_7_128413777 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128413777C>A;NG_009094.1:g.7068G>T;NM_001708.2:c.853G>T;NP_001699.1:p.Val285Phe 491914704 79158266 SNV-chr7-128201013 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128413834C>T;NG_009094.1:g.7011G>A;NM_001708.2:c.796G>A;NP_001699.1:p.Ala266Thr 342246560 141167245 ESP2500-chr7-128413834 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 611 NC_000007.13:g.128413835G>A;NG_009094.1:g.7010C>T;NM_001708.2:c.795C>T;NP_001699.1:p.Tyr265= 342246561 144995754 ESP2500-chr7-128413835 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 OMICIA 611 NC_000007.12:g.128201076G>A NC_000007.13:g.128413840G>A;NG_009094.1:g.7005C>T;NM_001708.2:c.790C>T;NP_001699.1:p.Pro264Ser 244238644 104894033 2010_April_001_058_OPN1SW_190900_0003 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 611 NP_001699.1:p.PRO264SER NC_000007.13:g.128413840G>A;NG_009094.1:g.7005C>T;NM_001708.2:c.790C>T;NP_001699.1:p.Pro264Ser 288287754 104894033 5822 germline pathogenic 2010.12.21 2010.12.21 2010.05.28 2012.09.29 137 1000GENOMES 611 NC_000007.13:g.128413856G>C;NG_009094.1:g.6989C>G;NM_001708.2:c.774C>G;NP_001699.1:p.Phe258Leu 459980085 190617412 20101123_snps_6147315_chr7_128413856 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413856G>C;NG_009094.1:g.6989C>G;NM_001708.2:c.774C>G;NP_001699.1:p.Phe258Leu 490953877 190617412 20110521_exome_461675_chr7_128413856 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128413867C>G;NG_009094.1:g.6978G>C;NM_001708.2:c.763G>C;NP_001699.1:p.Val255Leu 342246562 138093200 ESP2500-chr7-128413867 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413867C>G;NG_009094.1:g.6978G>C;NM_001708.2:c.763G>C;NP_001699.1:p.Val255Leu 488874199 138093200 20110521_exome_112220_chr7_128413867 9.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128413867C>G;NG_009094.1:g.6978G>C;NM_001708.2:c.763G>C;NP_001699.1:p.Val255Leu 491405489 138093200 nonsyn_121715_chr_7_128413867 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413942C>A;NG_009094.1:g.6903G>T;NM_001708.2:c.688G>T;NP_001699.1:p.Val230Phe 459980086 180902396 20101123_snps_6147316_chr7_128413942 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413942C>A;NG_009094.1:g.6903G>T;NM_001708.2:c.688G>T;NP_001699.1:p.Val230Phe 490953878 180902396 20110521_exome_461676_chr7_128413942 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413955A>G;NG_009094.1:g.6890T>C;NM_001708.2:c.688-13T>C 488874201 200610158 20110521_exome_112221_chr7_128413955 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413957G>A;NG_009094.1:g.6888C>T;NM_001708.2:c.688-15C>T 334435690 145104722 20100804_snps_6079231_chr7_128413957 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128413957G>A;NG_009094.1:g.6888C>T;NM_001708.2:c.688-15C>T 490953879 145104722 20110521_exome_461677_chr7_128413957 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128413957G>A;NG_009094.1:g.6888C>T;NM_001708.2:c.688-15C>T 491914705 145104722 SNV-chr7-128201193 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128413994A>G;NG_009094.1:g.6851T>C;NM_001708.2:c.688-52T>C 167102336 111528380 NA20431_36_chr7_128201230 2009.09.30 2009.09.30 2010.07.04 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128413994A>G;NG_009094.1:g.6851T>C;NM_001708.2:c.688-52T>C 491914706 111528380 SNV-chr7-128201230 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 HGSV 611 NC_000007.13:g.128413998_128413999insT;NG_009094.1:g.6846_6847insA;NM_001708.2:c.688-57_688-56insA 83443419 56762413 Cor18517_DIV_20070510.chr7_128007965-128007966_1 2007.12.05 2007.12.05 2007.12.14 2012.11.28 137 DEVINE_LAB 611 NC_000007.13:g.128413998_128413999insT;NG_009094.1:g.6846_6847insA;NM_001708.2:c.688-57_688-56insA 101769998 56762413 INDEL_GP36_2008a_1805701_0 2008.05.18 2008.05.18 2007.12.14 2012.11.28 137 GMI 611 NC_000007.13:g.128413998_128413999insT;NG_009094.1:g.6846_6847insA;NM_001708.2:c.688-57_688-56insA 288871958 56762413 GMI_AK_INDEL_548847 2010.12.24 2011.12.26 2007.12.14 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128414047G>A;NG_009094.1:g.6798C>T;NM_001708.2:c.688-105C>T 208352153 73238105 BCM_CMT_1011-1586918 4.35e-02 2010.03.19 2010.03.19 2009.02.14 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128414047G>A;NG_009094.1:g.6798C>T;NM_001708.2:c.688-105C>T 234165034 73238105 pilot_1_CEU_3769663_chr7_128201283 4.35e-02 2010.05.01 2010.05.01 2009.02.14 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128414051C>T;NG_009094.1:g.6794G>A;NM_001708.2:c.688-109G>A 334435691 151302719 20100804_snps_6079232_chr7_128414051 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414082G>T;NG_009094.1:g.6763C>A;NM_001708.2:c.688-140C>A 459980087 186121008 20101123_snps_6147317_chr7_128414082 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SI_EXO 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 71648076 45486505 NT_007933.14_53597664 2.13e-01 2007.05.07 2007.05.07 2007.05.17 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 93764709 45486505 JWB-3237704 2.13e-01 2008.03.05 2008.03.05 2007.05.17 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 142922454 45486505 ENSSNP6566325 2.13e-01 2009.06.05 2009.06.05 2007.05.17 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 162709314 45486505 NA07022_36_chr7_128201324 2.13e-01 2009.09.29 2009.09.29 2007.05.17 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 167102344 45486505 NA20431_36_chr7_128201324 2.13e-01 2009.09.30 2009.09.30 2007.05.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 223328633 45486505 pilot_1_YRI_5138316_chr7_128201324 2.13e-01 2010.04.22 2010.04.22 2007.05.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 234165035 45486505 pilot_1_CEU_3769664_chr7_128201324 2.13e-01 2010.05.01 2010.05.01 2007.05.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 241079110 45486505 pilot_1_CHB+JPT_2964187_chr7_128201324 2.13e-01 2010.05.01 2010.05.01 2007.05.17 2012.11.28 137 GMI 611 NC_000007.13:g.128414088G>A;NG_009094.1:g.6757C>T;NM_001708.2:c.688-146C>T 279528778 45486505 GMI_AK_SNP_3849025 2.13e-01 2010.12.16 2010.12.16 2007.05.17 2012.11.28 137 BGI 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 104467572 73238106 BGI_YHSNP0343676 7.10e-02 2008.06.08 2009.06.18 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 112526096 73238106 CEU.trio.12.15.2008_1853132_chr7_128201431 7.10e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 162709324 73238106 NA07022_36_chr7_128201431 7.10e-02 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 234165036 73238106 pilot_1_CEU_3769665_chr7_128201431 7.10e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 241079111 73238106 pilot_1_CHB+JPT_2964188_chr7_128201431 7.10e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 611 NC_000007.13:g.128414195G>A;NG_009094.1:g.6650C>T;NM_001708.2:c.688-253C>T 279528779 73238106 GMI_AK_SNP_3849026 7.10e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 BGI 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 104467573 73238109 BGI_YHSNP0343677 9.39e-02 2008.06.08 2009.06.18 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 112526100 73238109 CEU.trio.12.15.2008_1853133_chr7_128201571 9.39e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 162709330 73238109 NA07022_36_chr7_128201571 9.39e-02 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 223328634 73238109 pilot_1_YRI_5138317_chr7_128201571 9.39e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 234165037 73238109 pilot_1_CEU_3769666_chr7_128201571 9.39e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 241079112 73238109 pilot_1_CHB+JPT_2964189_chr7_128201571 9.39e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 279528780 73238109 GMI_AK_SNP_3849027 9.39e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 483239640 73238109 HumanOmni2.5-4v1_D_kgp3808692-0_B_R_1809779948 9.39e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414335G>A;NG_009094.1:g.6510C>T;NM_001708.2:c.687+217C>T 485345789 73238109 HumanOmni2.5-4v1_B_SNP7-128201571-0_B_R_1632091896 9.39e-02 2012.02.05 2012.02.05 2009.02.14 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 24447189 17397588 afd0600854 2.14e-01 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 75075975 17397588 ILMN_Human_1M_rs17397588 2.14e-01 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 76898250 17397588 NT_007933.14_53598060 2.14e-01 2007.09.20 2007.09.20 2004.09.20 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 93764710 17397588 JWB-2372513 2.14e-01 2008.03.05 2008.03.05 2004.09.20 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 119886305 17397588 KHS1899272 2.14e-01 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 162709335 17397588 NA07022_36_chr7_128201720 2.14e-01 2009.09.29 2009.09.29 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 167102347 17397588 NA20431_36_chr7_128201720 2.14e-01 2009.09.30 2009.09.30 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 172822983 17397588 Human1M-Duov3_B_rs17397588-128_B_F_1514036555 2.14e-01 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 208025804 17397588 BCM_CMT_1011-1474649 2.14e-01 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 223328635 17397588 pilot_1_YRI_5138318_chr7_128201720 2.14e-01 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 234165038 17397588 pilot_1_CEU_3769667_chr7_128201720 2.14e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 241079113 17397588 pilot_1_CHB+JPT_2964190_chr7_128201720 2.14e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 279528781 17397588 GMI_AK_SNP_3849028 2.14e-01 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 483065253 17397588 HumanOmni2.5-4v1_D_kgp2864405-0_B_F_1820309034 2.14e-01 2012.02.02 2012.02.02 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128414484T>C;NG_009094.1:g.6361A>G;NM_001708.2:c.687+68A>G 485345793 17397588 HumanOmni2.5-4v1_B_SNP7-128201720-0_B_F_1615362583 2.14e-01 2012.02.05 2012.02.05 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414490C>T;NG_009094.1:g.6355G>A;NM_001708.2:c.687+62G>A 459980088 191364408 20101123_snps_6147318_chr7_128414490 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128414490C>T;NG_009094.1:g.6355G>A;NM_001708.2:c.687+62G>A 491914707 191364408 SNV-chr7-128201726 9.00e-04 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414505T>G;NG_009094.1:g.6340A>C;NM_001708.2:c.687+47A>C 488874203 199778066 20110521_exome_112222_chr7_128414505 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128414515C>T;NG_009094.1:g.6330G>A;NM_001708.2:c.687+37G>A 198260530 113391851 BUSHMAN-chr7-128201750 8.70e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414515C>T;NG_009094.1:g.6330G>A;NM_001708.2:c.687+37G>A 334435692 113391851 20100804_snps_6079233_chr7_128414515 8.70e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414515C>T;NG_009094.1:g.6330G>A;NM_001708.2:c.687+37G>A 490953880 113391851 20110521_exome_461678_chr7_128414515 8.70e-03 2012.02.21 2012.02.21 2010.07.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414516G>A;NG_009094.1:g.6329C>T;NM_001708.2:c.687+36C>T 223328636 114296235 pilot_1_YRI_5138319_chr7_128201752 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414516G>A;NG_009094.1:g.6329C>T;NM_001708.2:c.687+36C>T 490953881 114296235 20110521_exome_461679_chr7_128414516 8.20e-03 2012.02.21 2012.02.21 2010.07.14 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128414541A>T;NG_009094.1:g.6304T>A;NM_001708.2:c.687+11T>A 198260535 113302345 BUSHMAN-chr7-128201776 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414563C>A;NG_009094.1:g.6282G>T;NM_001708.2:c.676G>T;NP_001699.1:p.Ala226Ser 459980089 182633734 20101123_snps_6147319_chr7_128414563 1.26e-01 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128414564C>T;NG_009094.1:g.6281G>A;NM_001708.2:c.675G>A;NP_001699.1:p.Arg225= 459980090 187276868 20101123_snps_6147320_chr7_128414564 1.14e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128414573C>T;NG_009094.1:g.6272G>A;NM_001708.2:c.666G>A;NP_001699.1:p.Gln222= 488874205 201738858 20110521_exome_112223_chr7_128414573 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128414576A>C;NG_009094.1:g.6269T>G;NM_001708.2:c.663T>G;NP_001699.1:p.Thr221= 342246563 149542842 ESP2500-chr7-128414576 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 OMICIA 611 NC_000007.12:g.128201835A>G NC_000007.13:g.128414599A>G;NG_009094.1:g.6246T>C;NM_001708.2:c.640T>C;NP_001699.1:p.Ser214Pro 244238643 104894032 2010_April_001_057_OPN1SW_190900_0002 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.09.29 137 OMIM-CURATED-RECORDS 611 NP_001699.1:p.SER214PRO NC_000007.13:g.128414599A>G;NG_009094.1:g.6246T>C;NM_001708.2:c.640T>C;NP_001699.1:p.Ser214Pro 288287752 104894032 5821 germline pathogenic 2010.12.21 2010.12.21 2010.05.28 2012.09.29 137 NHLBI-ESP 611 NC_000007.13:g.128414611T>C;NG_009094.1:g.6234A>G;NM_001708.2:c.628A>G;NP_001699.1:p.Ile210Val 342246564 143200949 ESP2500-chr7-128414611 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 GOLDSTEINLAB 611 ARRAY(0x45310aa0) 507869451 200180187 7_128201870_A 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 NHLBI-ESP 611 NC_000007.13:g.128414652C>T;NG_009094.1:g.6193G>A;NM_001708.2:c.587G>A;NP_001699.1:p.Arg196His 342246565 148243232 ESP2500-chr7-128414652 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414652C>T;NG_009094.1:g.6193G>A;NM_001708.2:c.587G>A;NP_001699.1:p.Arg196His 459980091 148243232 20101123_snps_6147321_chr7_128414652 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414652C>T;NG_009094.1:g.6193G>A;NM_001708.2:c.587G>A;NP_001699.1:p.Arg196His 490953882 148243232 20110521_exome_461680_chr7_128414652 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128414652C>T;NG_009094.1:g.6193G>A;NM_001708.2:c.587G>A;NP_001699.1:p.Arg196His 491405490 148243232 nonsyn_121716_chr_7_128414652 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414700A>G;NG_009094.1:g.6145T>C;NM_001708.2:c.539T>C;NP_001699.1:p.Leu180Pro 488874207 200777523 20110521_exome_112224_chr7_128414700 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414742A>C;NG_009094.1:g.6103T>G;NM_001708.2:c.522-25T>G 488874209 199940506 20110521_exome_112225_chr7_128414742 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414745G>A;NG_009094.1:g.6100C>T;NM_001708.2:c.522-28C>T 488874211 202015927 20110521_exome_112226_chr7_128414745 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 TSC-CSHL 611 NC_000007.13:g.128414764A>G;NG_009094.1:g.6081T>C;NM_001708.2:c.522-47T>C 136476 762657 TSC0116452 2000.09.06 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128414856G>C;NG_009094.1:g.5989C>G;NM_001708.2:c.522-139C>G 223328637 116508298 pilot_1_YRI_5138320_chr7_128202092 1.83e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414873C>G;NG_009094.1:g.5972G>C;NM_001708.2:c.522-156G>C 334435693 150488588 20100804_snps_6079234_chr7_128414873 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414889C>T;NG_009094.1:g.5956G>A;NM_001708.2:c.521+151G>A 459980092 183100738 20101123_snps_6147322_chr7_128414889 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128414890G>A;NG_009094.1:g.5955C>T;NM_001708.2:c.521+150C>T 334435694 138123241 20100804_snps_6079235_chr7_128414890 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414901T>C;NG_009094.1:g.5944A>G;NM_001708.2:c.521+139A>G 223328638 77697093 pilot_1_YRI_5138321_chr7_128202137 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128414928G>A;NG_009094.1:g.5917C>T;NM_001708.2:c.521+112C>T 459980093 189076327 20101123_snps_6147323_chr7_128414928 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128414930A>T;NG_009094.1:g.5915T>A;NM_001708.2:c.521+110T>A 459980094 193151232 20101123_snps_6147324_chr7_128414930 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 611 NC_000007.13:g.128414936T>A;NG_009094.1:g.5909A>T;NM_001708.2:c.521+104A>T 6253727 4612284 NT_007933.10_53590929 2003.01.13 2003.10.10 2003.02.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128414947G>C;NG_009094.1:g.5898C>G;NM_001708.2:c.521+93C>G 114420346 73467169 NA19240_2008_12_16_1669965_chr7_128202183 1.51e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128414947G>C;NG_009094.1:g.5898C>G;NM_001708.2:c.521+93C>G 165383743 73467169 NA19240_36_chr7_128202183 1.51e-02 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 BUSHMAN 611 NC_000007.13:g.128414947G>C;NG_009094.1:g.5898C>G;NM_001708.2:c.521+93C>G 198260542 73467169 BUSHMAN-chr7-128202182 1.51e-02 2010.03.06 2010.03.06 2009.02.14 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414947G>C;NG_009094.1:g.5898C>G;NM_001708.2:c.521+93C>G 223328640 73467169 pilot_1_YRI_5138323_chr7_128202183 1.51e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128414985A>C;NG_009094.1:g.5860T>G;NM_001708.2:c.521+55T>G 459980095 184428658 20101123_snps_6147325_chr7_128414985 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 611 NC_000007.13:g.128415040C>T;NG_009094.1:g.5805G>A;NM_001708.2:c.521G>A;NP_001699.1:p.Arg174Gln 342246566 141288412 ESP2500-chr7-128415040 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415040C>T;NG_009094.1:g.5805G>A;NM_001708.2:c.521G>A;NP_001699.1:p.Arg174Gln 491405491 141288412 splice_121717_chr_7_128415040 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 KWOK 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 432116 339041 OVLP-000621-330999 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 911851 339041 OVLP-000804-201638 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 2494695 339041 AC018638.4_81151 2000.11.03 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 3367516 339041 TSC1630798 2001.09.20 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 3718157 339041 AC024952.4_59444 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 160619079 339041 HumanOmni1-Quad_v1-0_B_rs339041-128_T_R_1562570329 2009.08.06 2009.10.04 2000.07.12 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 342246567 339041 ESP2500-chr7-128415041 2011.03.26 2011.03.26 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 481690942 339041 HumanOmni1-Quad_v1-0_C_rs339041-131_T_R_1863338209 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415041G>A;NG_009094.1:g.5804C>T;NM_001708.2:c.520C>T;NP_001699.1:p.Arg174Trp 491405492 339041 splice_121718_chr_7_128415041 2012.03.05 2012.03.05 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415071C>T;NG_009094.1:g.5774G>A;NM_001708.2:c.490G>A;NP_001699.1:p.Val164Ile 334435695 143817931 20100804_snps_6079236_chr7_128415071 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415071C>T;NG_009094.1:g.5774G>A;NM_001708.2:c.490G>A;NP_001699.1:p.Val164Ile 342246568 143817931 ESP2500-chr7-128415071 4.60e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415071C>T;NG_009094.1:g.5774G>A;NM_001708.2:c.490G>A;NP_001699.1:p.Val164Ile 490953883 143817931 20110521_exome_461681_chr7_128415071 4.60e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415071C>T;NG_009094.1:g.5774G>A;NM_001708.2:c.490G>A;NP_001699.1:p.Val164Ile 491405493 143817931 nonsyn_121719_chr_7_128415071 4.60e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415071C>T;NG_009094.1:g.5774G>A;NM_001708.2:c.490G>A;NP_001699.1:p.Val164Ile 491914708 143817931 SNV-chr7-128202307 4.60e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415131G>A;NG_009094.1:g.5714C>T;NM_001708.2:c.430C>T;NP_001699.1:p.Arg144Cys 342246569 143378646 ESP2500-chr7-128415131 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 GOLDSTEINLAB 611 NC_000007.13:g.128415131G>A;NG_009094.1:g.5714C>T;NM_001708.2:c.430C>T;NP_001699.1:p.Arg144Cys 507869448 143378646 7_128202367_A 2012.04.06 2012.04.06 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415140C>T;NG_009094.1:g.5705G>A;NM_001708.2:c.421G>A;NP_001699.1:p.Gly141Ser 459980096 187706553 20101123_snps_6147326_chr7_128415140 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415140C>T;NG_009094.1:g.5705G>A;NM_001708.2:c.421G>A;NP_001699.1:p.Gly141Ser 490953884 187706553 20110521_exome_461682_chr7_128415140 9.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415141G>A;NG_009094.1:g.5704C>T;NM_001708.2:c.420C>T;NP_001699.1:p.Phe140= 334435696 146420285 20100804_snps_6079237_chr7_128415141 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415141G>A;NG_009094.1:g.5704C>T;NM_001708.2:c.420C>T;NP_001699.1:p.Phe140= 490953885 146420285 20110521_exome_461683_chr7_128415141 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415162G>A;NG_009094.1:g.5683C>T;NM_001708.2:c.399C>T;NP_001699.1:p.Tyr133= 488874213 201129388 20110521_exome_112227_chr7_128415162 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415162G>A;NG_009094.1:g.5683C>T;NM_001708.2:c.399C>T;NP_001699.1:p.Tyr133= 491914709 201129388 SNV-chr7-128202398 9.00e-04 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415166C>T;NG_009094.1:g.5679G>A;NM_001708.2:c.395G>A;NP_001699.1:p.Arg132His 491914710 201376061 SNV-chr7-128202402 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 HGBASE 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 2419971 1799922 SNP000002383 2.31e-01 2000.11.07 2003.10.10 2000.11.14 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 24447204 1799922 afd0600856 2.31e-01 2004.08.21 2004.09.13 2000.11.14 2012.11.28 137 CSHL-HAPMAP 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 68426276 1799922 wicgr:assay:1302827:1 2.31e-01 2007.01.12 2007.01.16 2000.11.14 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 71644298 1799922 NT_007933.14_53598771 2.31e-01 2007.05.07 2008.03.31 2000.11.14 2012.11.28 137 HGSV 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 77200833 1799922 Cor12156_SNV_20070510.chr7_128009146 2.31e-01 2007.10.09 2007.10.11 2000.11.14 2012.11.28 137 SEATTLESEQ 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 159715674 1799922 OPN1SW-128202431 2.31e-01 2009.07.10 2009.07.10 2000.11.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 160462710 1799922 HumanOmni1-Quad_v1-0_B_rs1799922-128_T_F_1562557819 2.31e-01 2009.08.06 2009.10.02 2000.11.14 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 162709342 1799922 NA07022_36_chr7_128202431 2.31e-01 2009.09.29 2009.09.29 2000.11.14 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 208227044 1799922 BCM_CMT_1011-1542305 2.31e-01 2010.03.19 2010.03.19 2000.11.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 223328641 1799922 pilot_1_YRI_5138324_chr7_128202431 2.31e-01 2010.04.22 2010.04.22 2000.11.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 234165040 1799922 pilot_1_CEU_3769669_chr7_128202431 2.31e-01 2010.05.01 2010.05.01 2000.11.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 241079114 1799922 pilot_1_CHB+JPT_2964191_chr7_128202431 2.31e-01 2010.05.01 2010.05.01 2000.11.14 2012.11.28 137 GMI 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 279528782 1799922 GMI_AK_SNP_3849029 2.31e-01 2010.12.16 2010.12.16 2000.11.14 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 342246570 1799922 ESP2500-chr7-128415195 2.31e-01 2011.03.26 2011.03.26 2000.11.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 479909605 1799922 HumanOmni2.5-4v1_D_kgp12045227-0_B_F_1820188918 2.31e-01 2012.01.31 2012.01.31 2000.11.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 481066635 1799922 HumanOmni1-Quad_v1-0_C_rs1799922-131_T_F_1864564210 2.31e-01 2012.01.31 2012.01.31 2000.11.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 485345795 1799922 HumanOmni2.5-4v1_B_SNP7-128202431-0_B_F_1615503267 2.31e-01 2012.02.05 2012.02.05 2000.11.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 490953886 1799922 20110521_exome_461684_chr7_128415195 2.31e-01 2012.02.21 2012.02.21 2000.11.14 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415195T>G;NG_009094.1:g.5650A>C;NM_001708.2:c.366A>C;NP_001699.1:p.Gly122= 491914711 1799922 SNV-chr7-128202431 2.31e-01 2012.03.07 2012.03.13 2000.11.14 2012.11.28 137 TSC-CSHL 611 NC_000007.13:g.128415226G>A;NG_009094.1:g.5619C>T;NM_001708.2:c.353-18C>T 136478 762659 TSC0116454 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 KWOK 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 432115 339040 OVLP-000621-330998 1.37e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 911850 339040 OVLP-000804-201637 1.37e-02 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 1326681 339040 TSC0169634 1.37e-02 2000.09.06 2006.10.25 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 2494694 339040 AC018638.4_80955 1.37e-02 2000.11.03 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 3718158 339040 AC024952.4_59640 1.37e-02 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 75139901 339040 ILMN_Human_1M_rs339040 1.37e-02 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 119350509 339040 KHS1512756 1.37e-02 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 173583152 339040 Human1M-Duov3_B_rs339040-128_T_R_1514101874 1.37e-02 2009.10.04 2009.10.04 2000.07.12 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 198260545 339040 BUSHMAN-chr7-128202472 1.37e-02 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 212113390 339040 YRI.trio.3.2010_747333_chr7_128202473 1.37e-02 2010.03.31 2010.03.31 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 223328642 339040 pilot_1_YRI_5138325_chr7_128202473 1.37e-02 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 490953887 339040 20110521_exome_461685_chr7_128415237 1.37e-02 2012.02.21 2012.02.21 2000.07.12 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415237A>G;NG_009094.1:g.5608T>C;NM_001708.2:c.353-29T>C 491914712 339040 SNV-chr7-128202473 1.37e-02 2012.03.07 2012.03.13 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415259G>A;NG_009094.1:g.5586C>T;NM_001708.2:c.353-51C>T 334435697 139135756 20100804_snps_6079238_chr7_128415259 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 24447212 17476081 afd0600857 2.14e-01 2004.08.21 2004.09.13 2004.09.20 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 71642292 17476081 NT_007933.14_53598866 2.14e-01 2007.05.07 2008.03.31 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 75106079 17476081 ILMN_Human_1M_rs17476081 2.14e-01 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 HGSV 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 77236772 17476081 Cor12156_SNV_20070510.chr7_128009241 2.14e-01 2007.10.10 2007.10.12 2004.09.20 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 119887730 17476081 KHS1900186 2.14e-01 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 162709348 17476081 NA07022_36_chr7_128202526 2.14e-01 2009.09.29 2009.09.29 2004.09.20 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 167102358 17476081 NA20431_36_chr7_128202526 2.14e-01 2009.09.30 2009.09.30 2004.09.20 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 172835975 17476081 Human1M-Duov3_B_rs17476081-128_T_R_1514075367 2.14e-01 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 208147555 17476081 BCM_CMT_1011-1514886 2.14e-01 2010.03.19 2010.03.19 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 223328643 17476081 pilot_1_YRI_5138326_chr7_128202526 2.14e-01 2010.04.22 2010.04.22 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 234165041 17476081 pilot_1_CEU_3769670_chr7_128202526 2.14e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 241079115 17476081 pilot_1_CHB+JPT_2964192_chr7_128202526 2.14e-01 2010.05.01 2010.05.01 2004.09.20 2012.11.28 137 GMI 611 NC_000007.13:g.128415290C>T;NG_009094.1:g.5555G>A;NM_001708.2:c.353-82G>A 279528783 17476081 GMI_AK_SNP_3849030 2.14e-01 2010.12.16 2010.12.16 2004.09.20 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415298G>C;NG_009094.1:g.5547C>G;NM_001708.2:c.353-90C>G 459980097 191691952 20101123_snps_6147327_chr7_128415298 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128415376T>C;NG_009094.1:g.5469A>G;NM_001708.2:c.352+117A>G 223328644 74947853 pilot_1_YRI_5138327_chr7_128202612 1.83e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128415382C>T;NG_009094.1:g.5463G>A;NM_001708.2:c.352+111G>A 459980098 184257053 20101123_snps_6147328_chr7_128415382 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128415385G>A;NG_009094.1:g.5460C>T;NM_001708.2:c.352+108C>T 334435698 143150301 20100804_snps_6079239_chr7_128415385 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 611 NC_000007.13:g.128415432A>G;NG_009094.1:g.5413T>C;NM_001708.2:c.352+61T>C 84856404 60792859 Cor19240_SNV_20070510.chr7_128009383 1.51e-02 2007.12.08 2007.12.08 2007.12.16 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128415432A>G;NG_009094.1:g.5413T>C;NM_001708.2:c.352+61T>C 114420350 60792859 NA19240_2008_12_16_1669966_chr7_128202668 1.51e-02 2008.12.18 2008.12.18 2007.12.16 2011.09.09 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415432A>G;NG_009094.1:g.5413T>C;NM_001708.2:c.352+61T>C 165383754 60792859 NA19240_36_chr7_128202668 1.51e-02 2009.09.30 2009.09.30 2007.12.16 2011.09.09 137 BUSHMAN 611 NC_000007.13:g.128415432A>G;NG_009094.1:g.5413T>C;NM_001708.2:c.352+61T>C 198260549 60792859 BUSHMAN-chr7-128202667 1.51e-02 2010.03.06 2010.03.06 2007.12.16 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128415432A>G;NG_009094.1:g.5413T>C;NM_001708.2:c.352+61T>C 223328645 60792859 pilot_1_YRI_5138328_chr7_128202668 1.51e-02 2010.04.22 2010.04.22 2007.12.16 2011.09.09 137 TSC-CSHL 611 NC_000007.13:g.128415444T>C;NG_009094.1:g.5401A>G;NM_001708.2:c.352+49A>G 136477 762658 TSC0116453 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415528A>G;NG_009094.1:g.5317T>C;NM_001708.2:c.317T>C;NP_001699.1:p.Val106Ala 342246571 139477114 ESP2500-chr7-128415528 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415528A>G;NG_009094.1:g.5317T>C;NM_001708.2:c.317T>C;NP_001699.1:p.Val106Ala 488874215 139477114 20110521_exome_112228_chr7_128415528 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415535G>T;NG_009094.1:g.5310C>A;NM_001708.2:c.310C>A;NP_001699.1:p.Arg104Ser 342246572 149847165 ESP2500-chr7-128415535 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415535G>T;NG_009094.1:g.5310C>A;NM_001708.2:c.310C>A;NP_001699.1:p.Arg104Ser 459980099 149847165 20101123_snps_6147329_chr7_128415535 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415535G>T;NG_009094.1:g.5310C>A;NM_001708.2:c.310C>A;NP_001699.1:p.Arg104Ser 490953888 149847165 20110521_exome_461686_chr7_128415535 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415535G>T;NG_009094.1:g.5310C>A;NM_001708.2:c.310C>A;NP_001699.1:p.Arg104Ser 491405494 149847165 nonsyn_121720_chr_7_128415535 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415538C>T;NG_009094.1:g.5307G>A;NM_001708.2:c.307G>A;NP_001699.1:p.Gly103Ser 488874217 201892828 20110521_exome_112229_chr7_128415538 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415544C>T;NG_009094.1:g.5301G>A;NM_001708.2:c.301G>A;NP_001699.1:p.Val101Ile 342246573 144524727 ESP2500-chr7-128415544 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415544C>T;NG_009094.1:g.5301G>A;NM_001708.2:c.301G>A;NP_001699.1:p.Val101Ile 488874219 144524727 20110521_exome_112230_chr7_128415544 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415554G>A;NG_009094.1:g.5291C>T;NM_001708.2:c.291C>T;NP_001699.1:p.Asn97= 334435700 148455631 20100804_snps_6079241_chr7_128415554 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415554G>A;NG_009094.1:g.5291C>T;NM_001708.2:c.291C>T;NP_001699.1:p.Asn97= 342246574 148455631 ESP2500-chr7-128415554 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415554G>A;NG_009094.1:g.5291C>T;NM_001708.2:c.291C>T;NP_001699.1:p.Asn97= 490953889 148455631 20110521_exome_461687_chr7_128415554 1.40e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415565C>T;NG_009094.1:g.5280G>A;NM_001708.2:c.280G>A;NP_001699.1:p.Ala94Thr 342246575 144400933 ESP2500-chr7-128415565 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 611 NC_000007.13:g.128415566G>T;NG_009094.1:g.5279C>A;NM_001708.2:c.279C>A;NP_001699.1:p.Val93= 342246576 146564351 ESP2500-chr7-128415566 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 611 NC_000007.13:g.128415568C>T;NG_009094.1:g.5277G>A;NM_001708.2:c.277G>A;NP_001699.1:p.Val93Ile 342246577 141305506 ESP2500-chr7-128415568 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415568C>T;NG_009094.1:g.5277G>A;NM_001708.2:c.277G>A;NP_001699.1:p.Val93Ile 491405495 141305506 nonsyn_121721_chr_7_128415568 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415568C>T;NG_009094.1:g.5277G>A;NM_001708.2:c.277G>A;NP_001699.1:p.Val93Ile 491914713 141305506 SNV-chr7-128202804 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 OMICIA 611 NC_000007.12:g.128202846C>T NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 244238642 104894031 2010_April_001_056_OPN1SW_190900_0001 9.00e-04 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.11.28 137 OMIM-CURATED-RECORDS 611 NM_001708.2:c.235G>A NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 288287749 104894031 5820 9.00e-04 germline pathogenic 2010.12.21 2010.12.21 2010.05.28 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 342246578 104894031 ESP2500-chr7-128415610 9.00e-04 germline pathogenic 2011.03.26 2011.03.26 2010.05.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 459980100 104894031 20101123_snps_6147330_chr7_128415610 9.00e-04 germline pathogenic 2011.07.20 2011.07.20 2010.05.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 490953890 104894031 20110521_exome_461688_chr7_128415610 9.00e-04 germline pathogenic 2012.02.21 2012.02.21 2010.05.28 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 491405496 104894031 nonsyn_121722_chr_7_128415610 9.00e-04 germline pathogenic 2012.03.05 2012.03.05 2010.05.28 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415610C>T;NG_009094.1:g.5235G>A;NM_001708.2:c.235G>A;NP_001699.1:p.Gly79Arg 491914714 104894031 SNV-chr7-128202846 9.00e-04 germline pathogenic 2012.03.07 2012.03.13 2010.05.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415611G>A;NG_009094.1:g.5234C>T;NM_001708.2:c.234C>T;NP_001699.1:p.Phe78= 334435701 141770175 20100804_snps_6079242_chr7_128415611 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415611G>A;NG_009094.1:g.5234C>T;NM_001708.2:c.234C>T;NP_001699.1:p.Phe78= 490953891 141770175 20110521_exome_461689_chr7_128415611 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 APPLERA_GI 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 48402364 35893393 hCV25629181 8.20e-03 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 76897441 35893393 NT_007933.14_53599199 8.20e-03 2007.09.20 2007.09.20 2006.03.15 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 234165043 35893393 pilot_1_CEU_3769672_chr7_128202859 8.20e-03 2010.05.01 2010.05.01 2006.03.15 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 342246579 35893393 ESP2500-chr7-128415623 8.20e-03 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 483330648 35893393 HumanOmni2.5-4v1_D_kgp429700-0_T_R_1820482272 8.20e-03 2012.02.02 2012.02.02 2006.03.15 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 485345797 35893393 HumanOmni2.5-4v1_B_SNP7-128202859-0_T_R_1631919891 8.20e-03 2012.02.05 2012.02.05 2006.03.15 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 490953892 35893393 20110521_exome_461690_chr7_128415623 8.20e-03 2012.02.21 2012.02.21 2006.03.15 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415623G>T;NG_009094.1:g.5222C>A;NM_001708.2:c.222C>A;NP_001699.1:p.Val74= 491914715 35893393 SNV-chr7-128202859 8.20e-03 2012.03.07 2012.03.13 2006.03.15 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415634A>G;NG_009094.1:g.5211T>C;NM_001708.2:c.211T>C;NP_001699.1:p.Tyr71His 342246580 140464762 ESP2500-chr7-128415634 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 611 NC_000007.13:g.128415659G>A;NG_009094.1:g.5186C>T;NM_001708.2:c.186C>T;NP_001699.1:p.Tyr62= 342246581 150165356 ESP2500-chr7-128415659 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BCMHGSC_JDW 611 NC_000007.13:g.128415664G>A;NG_009094.1:g.5181C>T;NM_001708.2:c.181C>T;NP_001699.1:p.Arg61Cys 93764712 62479596 JWB-3237705 2008.03.05 2008.03.05 2008.03.25 2011.07.08 137 NHLBI-ESP 611 NC_000007.13:g.128415668T>C;NG_009094.1:g.5177A>G;NM_001708.2:c.177A>G;NP_001699.1:p.Thr59= 342246582 138675255 ESP2500-chr7-128415668 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128415785C>T;NG_009094.1:g.5060G>A;NM_001708.2:c.60G>A;NP_001699.1:p.Pro20= 334435702 150585695 20100804_snps_6079243_chr7_128415785 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415785C>T;NG_009094.1:g.5060G>A;NM_001708.2:c.60G>A;NP_001699.1:p.Pro20= 342246583 150585695 ESP2500-chr7-128415785 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415785C>T;NG_009094.1:g.5060G>A;NM_001708.2:c.60G>A;NP_001699.1:p.Pro20= 490953893 150585695 20110521_exome_461691_chr7_128415785 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415785C>T;NG_009094.1:g.5060G>A;NM_001708.2:c.60G>A;NP_001699.1:p.Pro20= 491914716 150585695 SNV-chr7-128203021 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415786G>C;NG_009094.1:g.5059C>G;NM_001708.2:c.59C>G;NP_001699.1:p.Pro20Arg 342246584 146986222 ESP2500-chr7-128415786 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128415802T>G;NG_009094.1:g.5043A>C;NM_001708.2:c.43A>C;NP_001699.1:p.Ile15Leu 488874221 200504235 20110521_exome_112231_chr7_128415802 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415802T>G;NG_009094.1:g.5043A>C;NM_001708.2:c.43A>C;NP_001699.1:p.Ile15Leu 491405497 200504235 nonsyn_121723_chr_7_128415802 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 76899662 55974922 NT_007933.14_53599390 3.20e-03 2007.09.20 2007.09.20 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 112526104 55974922 CEU.trio.12.15.2008_1853134_chr7_128203050 3.20e-03 2008.12.17 2008.12.17 2007.12.07 2012.11.28 137 SEATTLESEQ 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 159715675 55974922 OPN1SW-128203050 3.20e-03 2009.07.10 2009.07.10 2007.12.07 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 162709353 55974922 NA07022_36_chr7_128203050 3.20e-03 2009.09.29 2009.09.29 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 334435703 55974922 20100804_snps_6079244_chr7_128415814 3.20e-03 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 NHLBI-ESP 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 342246585 55974922 ESP2500-chr7-128415814 3.20e-03 2011.03.26 2011.03.26 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 490953894 55974922 20110521_exome_461692_chr7_128415814 3.20e-03 2012.02.21 2012.02.21 2007.12.07 2012.11.28 137 CLINSEQ_SNP 611 NC_000007.13:g.128415814G>A;NG_009094.1:g.5031C>T;NM_001708.2:c.31C>T;NP_001699.1:p.Leu11= 491914717 55974922 SNV-chr7-128203050 3.20e-03 2012.03.07 2012.03.13 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415830C>T;NG_009094.1:g.5015G>A;NM_001708.2:c.15G>A;NP_001699.1:p.Ser5= 488874223 199617151 20110521_exome_112232_chr7_128415830 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415831G>A;NG_009094.1:g.5014C>T;NM_001708.2:c.14C>T;NP_001699.1:p.Ser5Leu 459980101 185373190 20101123_snps_6147331_chr7_128415831 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 EXOME_CHIP 611 NC_000007.13:g.128415831G>A;NG_009094.1:g.5014C>T;NM_001708.2:c.14C>T;NP_001699.1:p.Ser5Leu 491405498 185373190 nonsyn_121724_chr_7_128415831 5.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 YUSUKE 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 4993523 3807128 IMS-JST166501 2.13e-01 2002.08.12 2003.11.22 2002.08.28 2012.11.28 137 CSHL-HAPMAP 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 19718446 3807128 CSHL-HuDD-200402.chr7.NT_007933.13_53592009 2.13e-01 2004.02.21 2004.03.04 2002.08.28 2012.11.28 137 SSAHASNP 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 22537515 3807128 WGSA-200403-chr7.chr7.NT_007933.13_53592009 2.13e-01 2004.03.21 2004.03.21 2002.08.28 2012.11.28 137 ABI 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 44837066 3807128 hCV25629179 2.13e-01 2005.07.19 2005.07.19 2002.08.28 2012.11.28 137 SI_EXO 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 76890135 3807128 NT_007933.14_53599436 2.13e-01 2007.09.20 2007.09.20 2002.08.28 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 93764714 3807128 JWB-2372514 2.13e-01 2008.03.05 2008.03.05 2002.08.28 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 142922459 3807128 ENSSNP13356444 2.13e-01 2009.06.05 2009.06.05 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 162709358 3807128 NA07022_36_chr7_128203096 2.13e-01 2009.09.29 2009.09.29 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 167102366 3807128 NA20431_36_chr7_128203096 2.13e-01 2009.09.30 2009.09.30 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 208340203 3807128 BCM_CMT_1011-1582709 2.13e-01 2010.03.19 2010.03.19 2002.08.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 223328646 3807128 pilot_1_YRI_5138329_chr7_128203096 2.13e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 234165044 3807128 pilot_1_CEU_3769673_chr7_128203096 2.13e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 241079116 3807128 pilot_1_CHB+JPT_2964193_chr7_128203096 2.13e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 279528784 3807128 GMI_AK_SNP_3849031 2.13e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415860C>T;NG_009094.1:g.4985G>A;NM_001708.2:c.-16G>A 490953895 3807128 20110521_exome_461693_chr7_128415860 2.13e-01 2012.02.21 2012.02.21 2002.08.28 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415884T>A;NG_009094.1:g.4961A>T;NM_001708.2:c.-40A>T 334435704 143165830 20100804_snps_6079245_chr7_128415884 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128415884T>A;NG_009094.1:g.4961A>T;NM_001708.2:c.-40A>T 490953896 143165830 20110521_exome_461694_chr7_128415884 5.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 GMI 611 NC_000007.13:g.128415997A>G;NG_009094.1:g.4848T>C;NM_001708.2:c.-153T>C 279528785 200392955 GMI_AK_SNP_3849032 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 APPLERA_GI 611 NC_000007.13:g.128416008T>C;NG_009094.1:g.4837A>G;NM_001708.2:c.-164A>G 95211926 62617076 hCV25629180 4.35e-02 2008.03.13 2008.03.13 2008.03.25 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128416008T>C;NG_009094.1:g.4837A>G;NM_001708.2:c.-164A>G 112526108 62617076 CEU.trio.12.15.2008_1853135_chr7_128203244 4.35e-02 2008.12.17 2008.12.17 2008.03.25 2011.09.09 137 BUSHMAN 611 NC_000007.13:g.128416008T>C;NG_009094.1:g.4837A>G;NM_001708.2:c.-164A>G 198260557 62617076 BUSHMAN-chr7-128203243 4.35e-02 2010.03.06 2010.03.06 2008.03.25 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128416008T>C;NG_009094.1:g.4837A>G;NM_001708.2:c.-164A>G 223328647 62617076 pilot_1_YRI_5138330_chr7_128203244 4.35e-02 2010.04.22 2010.04.22 2008.03.25 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128416008T>C;NG_009094.1:g.4837A>G;NM_001708.2:c.-164A>G 234165045 62617076 pilot_1_CEU_3769674_chr7_128203244 4.35e-02 2010.05.01 2010.05.01 2008.03.25 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128416071A>G;NG_009094.1:g.4774T>C;NM_001708.2:c.-227T>C 114420361 73467172 NA19240_2008_12_16_1669967_chr7_128203307 4.60e-03 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128416071A>G;NG_009094.1:g.4774T>C;NM_001708.2:c.-227T>C 165383765 73467172 NA19240_36_chr7_128203307 4.60e-03 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416071A>G;NG_009094.1:g.4774T>C;NM_001708.2:c.-227T>C 223328648 73467172 pilot_1_YRI_5138331_chr7_128203307 4.60e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416349C>A;NG_009094.1:g.4496G>T;NM_001708.2:c.-505G>T 223328649 115729952 pilot_1_YRI_5138332_chr7_128203585 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416349C>A;NG_009094.1:g.4496G>T;NM_001708.2:c.-505G>T 480414059 115729952 HumanOmni2.5-4v1_D_kgp13766445-0_B_R_1828170897 6.40e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416349C>A;NG_009094.1:g.4496G>T;NM_001708.2:c.-505G>T 485345799 115729952 HumanOmni2.5-4v1_B_SNP7-128203585-0_B_R_1645514829 6.40e-03 2012.02.05 2012.02.05 2010.07.14 2012.11.28 137 GMI 611 NC_000007.13:g.128416512T>G;NG_009094.1:g.4333A>C;NM_001708.2:c.-668A>C 155486667 74512884 GMI_SNP_47502529 7.23e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416512T>G;NG_009094.1:g.4333A>C;NM_001708.2:c.-668A>C 241079117 74512884 pilot_1_CHB+JPT_2964194_chr7_128203748 7.23e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 611 NC_000007.13:g.128416512T>G;NG_009094.1:g.4333A>C;NM_001708.2:c.-668A>C 279528786 74512884 GMI_AK_SNP_3849033 7.23e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416520C>T;NG_009094.1:g.4325G>A;NM_001708.2:c.-676G>A 334435705 146677818 20100804_snps_6079246_chr7_128416520 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 11892772 7803604 chr7.NT_007933.12_53592673 2.06e-02 2003.07.04 2006.10.25 2003.07.11 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 75046792 7803604 ILMN_Human_1M_rs7803604 2.06e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 114420366 7803604 NA19240_2008_12_16_1669968_chr7_128203760 2.06e-02 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 119569715 7803604 KHS1731962 2.06e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 165383776 7803604 NA19240_36_chr7_128203760 2.06e-02 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 174557628 7803604 Human1M-Duov3_B_rs7803604-128_B_R_1514017094 2.06e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 198260560 7803604 BUSHMAN-chr7-128203759 2.06e-02 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 223328650 7803604 pilot_1_YRI_5138333_chr7_128203760 2.06e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416524A>G;NG_009094.1:g.4321T>C;NM_001708.2:c.-680T>C 241079118 7803604 pilot_1_CHB+JPT_2964195_chr7_128203760 2.06e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416541T>A;NG_009094.1:g.4304A>T;NM_001708.2:c.-697A>T 234165046 74652146 pilot_1_CEU_3769675_chr7_128203777 4.60e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416550C>T;NG_009094.1:g.4295G>A;NM_001708.2:c.-706G>A 223328651 114644741 pilot_1_YRI_5138334_chr7_128203786 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 KWOK 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 432114 339039 OVLP-000621-330997 2.17e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 911849 339039 OVLP-000804-201636 2.17e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 2519477 339039 AC024952.3_116352 2.17e-01 2000.11.03 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 3718159 339039 AC024952.4_60964 2.17e-01 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 4943422 339039 IMS-JST110621 2.17e-01 2002.08.01 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 6521768 339039 NT_007933.10_53592554 2.17e-01 2003.02.12 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 11893719 339039 chr7.NT_007933.12_53592710 2.17e-01 2003.07.04 2007.08.14 2000.07.12 2012.11.28 137 WUGSC_SSAHASNP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 14570521 339039 chr7.NT_007933.13_53592710 2.17e-01 2003.11.08 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 17938264 339039 CSHL-HuCC-200402.chr7.NT_007933.13_53592710 2.17e-01 2004.02.19 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 22542637 339039 WGSA-200403-chr7.chr7.NT_007933.13_53592710 2.17e-01 2004.03.21 2004.03.21 2000.07.12 2012.11.28 137 SSAHASNP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 22918837 339039 AACC-200403.chr7.NT_007933.13_53592710 2.17e-01 2004.03.22 2004.03.22 2000.07.12 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 24447225 339039 afd0600858 2.17e-01 2004.08.21 2004.09.13 2000.07.12 2012.11.28 137 ABI 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 44805751 339039 hCV617445 2.17e-01 2005.07.19 2005.07.19 2000.07.12 2012.11.28 137 HGSV 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 78616938 339039 Cor18507_SNV_20070510.chr7_128010512 2.17e-01 2007.10.20 2007.10.20 2000.07.12 2012.11.28 137 HGSV 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 81548189 339039 Cor18555_SNV_20070510.chr7_128010512 2.17e-01 2007.11.30 2007.11.30 2000.07.12 2012.11.28 137 HGSV 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 82122856 339039 Cor19240_SNV_20070510.chr7_128010512 2.17e-01 2007.12.02 2007.12.02 2000.07.12 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 93764715 339039 JWB-2372515 2.17e-01 2008.03.05 2008.03.05 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 98185563 339039 1103652700557 2.17e-01 2008.03.31 2008.03.31 2000.07.12 2012.11.28 137 BGI 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 105572461 339039 BGI_rs339039 2.17e-01 2008.09.11 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 112526112 339039 CEU.trio.12.15.2008_1853136_chr7_128203797 2.17e-01 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 114420378 339039 NA19240_2008_12_16_1669969_chr7_128203797 2.17e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 116305637 339039 NA18507_000158016_NCBI36.1_chr7_128203797 2.17e-01 2009.01.17 2009.01.17 2000.07.12 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 142501502 339039 ENSSNP3764199 2.17e-01 2009.06.05 2009.10.16 2000.07.12 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 142922467 339039 ENSSNP6454858 2.17e-01 2009.06.05 2009.06.05 2000.07.12 2012.11.28 137 GMI 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 155486676 339039 GMI_SNP_47536644 2.17e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 160619078 339039 HumanOmni1-Quad_v1-0_B_rs339039-128_B_F_1580063611 2.17e-01 2009.08.06 2009.10.04 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 162709366 339039 NA07022_36_chr7_128203797 2.17e-01 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 165383787 339039 NA19240_36_chr7_128203797 2.17e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 198260564 339039 BUSHMAN-chr7-128203796 2.17e-01 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 208028011 339039 BCM_CMT_1011-1475380 2.17e-01 2010.03.19 2010.03.19 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 223328652 339039 pilot_1_YRI_5138335_chr7_128203797 2.17e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 234165047 339039 pilot_1_CEU_3769676_chr7_128203797 2.17e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 241079119 339039 pilot_1_CHB+JPT_2964196_chr7_128203797 2.17e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 254671941 339039 SNP140530_7_128203797 2.17e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 279528787 339039 GMI_AK_SNP_3849034 2.17e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 293964838 339039 SNP_3471196_chr7_128203797 2.17e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416561G>A;NG_009094.1:g.4284C>T;NM_001708.2:c.-717C>T 481690937 339039 HumanOmni1-Quad_v1-0_C_rs339039-131_B_F_1863338137 2.17e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 KWOK 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 432113 339038 OVLP-000621-330996 3.29e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 KWOK 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 911848 339038 OVLP-000804-201635 3.29e-01 2000.09.01 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 2519476 339038 AC024952.3_116326 3.29e-01 2000.11.03 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 3814567 339038 AC074373.2_111106 3.29e-01 2001.09.25 2003.10.10 2000.07.12 2012.11.28 137 YUSUKE 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 4943421 339038 IMS-JST110620 3.29e-01 2002.08.01 2003.10.10 2000.07.12 2012.11.28 137 SSAHASNP 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 22613517 339038 WGSA-200403-chr7.chr7.NT_007933.13_53592736 3.29e-01 2004.03.21 2006.10.26 2000.07.12 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 23437144 339038 afd0600859 3.29e-01 2004.08.20 2004.09.13 2000.07.12 2012.11.28 137 ABI 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 44779962 339038 hCV1327920 3.29e-01 2005.07.19 2006.11.03 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 67294641 339038 HumanHap550v1.1_rs339038 3.29e-01 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 67698720 339038 HumanHap650Yv1.0_rs339038 3.29e-01 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 68219175 339038 HumanHap250Sv1.0_rs339038 3.29e-01 2006.12.06 2006.12.07 2000.07.12 2012.11.28 137 PERLEGEN 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 69027878 339038 PGP00600859 3.29e-01 2007.01.30 2007.08.14 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 70773257 339038 HumanHap550v3.0__rs339038 3.29e-01 2007.04.20 2008.03.30 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 71348877 339038 HumanHap650Yv3.0_rs339038 3.29e-01 2007.04.23 2007.04.23 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 75630952 339038 ILMN_Human_1M_rs339038 3.29e-01 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 HGSV 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 80000578 339038 Cor18507_SNV_20070510.chr7_128010538 3.29e-01 2007.11.24 2007.11.24 2000.07.12 2012.11.28 137 KRIBB_YJKIM 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 83431953 339038 KHS460181 3.29e-01 2007.12.05 2007.12.05 2000.07.12 2012.11.28 137 HGSV 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 83898085 339038 Cor19240_SNV_20070510.chr7_128010538 3.29e-01 2007.12.06 2007.12.06 2000.07.12 2012.11.28 137 BCMHGSC_JDW 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 93764716 339038 JWB-2372516 3.29e-01 2008.03.05 2008.03.05 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 98185564 339038 1103652700558 3.29e-01 2008.03.31 2008.03.31 2000.07.12 2012.11.28 137 BGI 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 104467574 339038 BGI_rs339038 3.29e-01 2008.06.08 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 112526116 339038 CEU.trio.12.15.2008_1853137_chr7_128203823 3.29e-01 2008.12.17 2008.12.17 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 114420383 339038 NA19240_2008_12_16_1669970_chr7_128203823 3.29e-01 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 ILLUMINA-UK 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 116305640 339038 NA18507_000158017_NCBI36.1_chr7_128203823 3.29e-01 2009.01.17 2009.01.17 2000.07.12 2012.11.28 137 ENSEMBL 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 139486933 339038 ENSSNP3417797 3.29e-01 2009.05.19 2009.10.19 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 154258745 339038 Human610_Quadv1_B_rs339038-126_T_F_1502203358 3.29e-01 2009.06.20 2009.06.20 2000.07.12 2012.11.28 137 GMI 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 155486684 339038 GMI_SNP_78291827 3.29e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 159435189 339038 Human660W-Quad_v1_A_rs339038-126_T_F_1502203358 3.29e-01 2009.07.07 2009.07.07 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 160619077 339038 HumanOmni1-Quad_v1-0_B_rs339038-126_T_F_1501488340 3.29e-01 2009.08.06 2009.10.04 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 165383797 339038 NA19240_36_chr7_128203823 3.29e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 173583148 339038 Human1M-Duov3_B_rs339038-126_T_F_1502203358 3.29e-01 2009.10.04 2009.10.04 2000.07.12 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 198260570 339038 BUSHMAN-chr7-128203822 3.29e-01 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 208040610 339038 BCM_CMT_1011-1479514 3.29e-01 2010.03.19 2010.03.19 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 223328653 339038 pilot_1_YRI_5138336_chr7_128203823 3.29e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 234165048 339038 pilot_1_CEU_3769677_chr7_128203823 3.29e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 241079120 339038 pilot_1_CHB+JPT_2964197_chr7_128203823 3.29e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 254671945 339038 SNP140531_7_128203823 3.29e-01 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 279528788 339038 GMI_AK_SNP_3849035 3.29e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 293964839 339038 SNP_3471197_chr7_128203823 3.29e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 480777190 339038 HumanOmni2.5-4v1_B_rs339038-128_T_F_1502203358 3.29e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 480793046 339038 HumanOmniExpress-12v1_C_rs339038-131_T_F_1857438314 3.29e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 481690933 339038 HumanOmni1-Quad_v1-0_C_rs339038-131_T_F_1865136407 3.29e-01 2012.02.01 2012.02.01 2000.07.12 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128416587T>C;NG_009094.1:g.4258A>G;NM_001708.2:c.-743A>G 485183316 339038 HumanOmni2.5-4v1_D_rs339038-131_T_F_1857438314 3.29e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128416642C>T;NG_009094.1:g.4203G>A;NM_001708.2:c.-798G>A 459980102 190603912 20101123_snps_6147332_chr7_128416642 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 611 NC_000007.13:g.128416713T>A;NG_009094.1:g.4132A>T;NM_001708.2:c.-869A>T 198260577 112715928 BUSHMAN-chr7-128203948 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128416769G>C;NG_009094.1:g.4076C>G;NM_001708.2:c.-925C>G 459980103 182257917 20101123_snps_6147333_chr7_128416769 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128416784T>C;NG_009094.1:g.4061A>G;NM_001708.2:c.-940A>G 459980104 185999308 20101123_snps_6147334_chr7_128416784 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128417030A>G;NG_009094.1:g.3815T>C;NM_001708.2:c.-1186T>C 334435707 149905751 20100804_snps_6079248_chr7_128417030 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 611 NC_000007.13:g.128417044T>G;NG_009094.1:g.3801A>C;NM_001708.2:c.-1200A>C 77507978 55985730 Cor12156_SNV_20070510.chr7_128010995 2.15e-02 2007.10.13 2007.10.13 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417044T>G;NG_009094.1:g.3801A>C;NM_001708.2:c.-1200A>C 334435708 55985730 20100804_snps_6079249_chr7_128417044 2.15e-02 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 112526120 73238110 CEU.trio.12.15.2008_1853138_chr7_128204350 6.36e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 162709371 73238110 NA07022_36_chr7_128204350 6.36e-02 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 223328655 73238110 pilot_1_YRI_5138338_chr7_128204350 6.36e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 234165049 73238110 pilot_1_CEU_3769678_chr7_128204350 6.36e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 241079121 73238110 pilot_1_CHB+JPT_2964198_chr7_128204350 6.36e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 GMI 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 279528789 73238110 GMI_AK_SNP_3849036 6.36e-02 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 483202254 73238110 HumanOmni2.5-4v1_D_kgp3604747-0_B_F_1807825125 6.36e-02 2012.02.02 2012.02.02 2009.02.14 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128417114T>C;NG_009094.1:g.3731A>G;NM_001708.2:c.-1270A>G 485345801 73238110 HumanOmni2.5-4v1_B_SNP7-128204350-0_B_F_1612665178 6.36e-02 2012.02.05 2012.02.05 2009.02.14 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417195A>G;NG_009094.1:g.3650T>C;NM_001708.2:c.-1351T>C 459980105 190866835 20101123_snps_6147335_chr7_128417195 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128417253T>C;NG_009094.1:g.3592A>G;NM_001708.2:c.-1409A>G 223328656 114415108 pilot_1_YRI_5138339_chr7_128204489 5.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 ENSEMBL 611 NC_000007.13:g.128417265T>G;NG_009094.1:g.3580A>C;NM_001708.2:c.-1421A>C 142922483 77520011 ENSSNP13356446 2009.06.05 2009.06.05 2009.12.01 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128417278C>T;NG_009094.1:g.3567G>A;NM_001708.2:c.-1434G>A 459980106 181084929 20101123_snps_6147336_chr7_128417278 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 611 NC_000007.13:g.128417292G>A;NG_009094.1:g.3553C>T;NM_001708.2:c.-1448C>T 459980107 185519564 20101123_snps_6147337_chr7_128417292 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 104467575 67738450 BGI_YHSNP0343678 8.42e-02 2008.06.08 2009.06.18 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 112526124 67738450 CEU.trio.12.15.2008_1853139_chr7_128204562 8.42e-02 2008.12.17 2008.12.17 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 114420387 67738450 NA19240_2008_12_16_1669971_chr7_128204562 8.42e-02 2008.12.18 2008.12.18 2009.02.06 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 162709378 67738450 NA07022_36_chr7_128204562 8.42e-02 2009.09.29 2009.09.29 2009.02.06 2012.11.28 137 COMPLETE_GENOMICS 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 165383808 67738450 NA19240_36_chr7_128204562 8.42e-02 2009.09.30 2009.09.30 2009.02.06 2012.11.28 137 BUSHMAN 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 198260580 67738450 BUSHMAN-chr7-128204561 8.42e-02 2010.03.06 2010.03.06 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 223328657 67738450 pilot_1_YRI_5138340_chr7_128204562 8.42e-02 2010.04.22 2010.04.22 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 234165050 67738450 pilot_1_CEU_3769679_chr7_128204562 8.42e-02 2010.05.01 2010.05.01 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 241079122 67738450 pilot_1_CHB+JPT_2964199_chr7_128204562 8.42e-02 2010.05.01 2010.05.01 2009.02.06 2012.11.28 137 GMI 611 NC_000007.13:g.128417326C>G;NG_009094.1:g.3519G>C;NM_001708.2:c.-1482G>C 279528790 67738450 GMI_AK_SNP_3849037 8.42e-02 2010.12.16 2010.12.16 2009.02.06 2012.11.28 137 1000GENOMES 611 NC_000007.13:g.128417347G>C;NG_009094.1:g.3498C>G;NM_001708.2:c.-1503C>G 459980108 190323574 20101123_snps_6147338_chr7_128417347 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 611 NC_000007.13:g.128417359_128417365delCAGAGGA;NG_009094.1:g.3480_3486delTCCTCTG;NM_001708.2:c.-1521_-1515delTCCTCTG 100965719 72063324 INDEL_GP36_2008a_1442767_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 611 NC_000007.13:g.128417362delA;NC_000007.13:g.128417362delAinsAGGACAG;NG_009094.1:g.3483delT;NG_009094.1:g.3483delTinsCTGTCCT;NM_001708.2:c.-1518delT;NM_001708.2:c.-1518delTinsCTGTCCT 100321712 67486304 INDEL_GP36_2008a_1446122_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 WUGSC_SSAHASNP 611 NC_000007.13:g.128417369A>G;NG_009094.1:g.3476T>C;NM_001708.2:c.-1525T>C 14102670 10232905 chr7.NT_007933.13_53593518 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 WUGSC_SSAHASNP 611 NC_000007.13:g.128417370G>A;NG_009094.1:g.3475C>T;NM_001708.2:c.-1526C>T 14132460 10262646 chr7.NT_007933.13_53593519 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128417370G>A;NG_009094.1:g.3475C>T;NM_001708.2:c.-1526C>T 159884492 10262646 HumanOmni1-Quad_v1-0_B_rs10262646-128_T_F_1576795092 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 ILLUMINA 611 NC_000007.13:g.128417370G>A;NG_009094.1:g.3475C>T;NM_001708.2:c.-1526C>T 479603871 10262646 HumanOmni1-Quad_v1-0_C_rs10262646-131_T_F_1863262770 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 WUGSC_SSAHASNP 611 NC_000007.13:g.128417376G>A;NG_009094.1:g.3469C>T;NM_001708.2:c.-1532C>T 14132465 10262651 chr7.NT_007933.13_53593525 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 WUGSC_SSAHASNP 611 NC_000007.13:g.128417377A>G;NG_009094.1:g.3468T>C;NM_001708.2:c.-1533T>C 14102674 10232909 chr7.NT_007933.13_53593526 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 611 NC_000007.13:g.128417466A>G;NG_009094.1:g.3379T>C;NM_001708.2:c.-1622T>C 334435709 148984935 20100804_snps_6079250_chr7_128417466 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128417509A>G;NG_009094.1:g.3336T>C;NM_001708.2:c.-1665T>C 334435710 143783128 20100804_snps_6079251_chr7_128417509 3.07e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 611 NC_000007.13:g.128417783C>T;NG_009094.1:g.3062G>A;NM_001708.2:c.-1939G>A 459980109 182882046 20101123_snps_6147339_chr7_128417783 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 # Report date: 2013.2.9, Gene: OPN1SW (611), ss count: 513, rs count: 160.