regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECTD2_chr10_91405344_91519820 | 91497456 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 15 | 0.0667 | -11 | c.168 others(28): Show |
HECTD2 | ENSG00000165338.17 | transcript | ENST00000298068.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HECTD4_chr12_112155195_112387431 | 112268868 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0009 | a0001c0009t0018 | a0001c0009t0018g0268 | 1 | 270 | 0.0037 | -11 | c.232 others(28): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 13/75 | chr12 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112349388 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0093 | 1 | 270 | 0.0037 | -11 | c.178 others(30): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43221537 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02922.hp2 NA18945.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0005 | a0001c0001t0002g0045a0001c0001t0004g0010a0001c0002t0005g0167 | 3 | 182 | 0.0165 | -11 | c.-31 others(30): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW2_chr2_196189072_196598554 | 196507143 | AGTGTGTA others(4): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG03239.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0013a0001c0001t0003g0018a0001c0001t0006g0019others(1): Show | 4 | 112 | 0.0357 | -11 | c.-35 others(30): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 124971478 | CTTTTCTT others(4): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 |
a0034a0041 | a0034c0066a0041c0069 | a0034c0066t0068a0041c0069t0111 | a0034c0066t0068g0010a0041c0069t0111g0203 | 2 | 362 | 0.0055 | -11 | c.399 others(28): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 16/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125039842 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0145 | 1 | 362 | 0.0028 | -11 | c.317 others(30): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125049257 | ACTTACAT others(4): Show |
A | intron_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0083 | 1 | 362 | 0.0028 | -11 | c.316 others(28): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94575766 | TGTGTTTG others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0097others(49): Show | 56 | 358 | 0.1564 | -11 | c.889 others(26): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 9/21 | chr10 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94597579 | CTGGAGTG others(4): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 358 | 0.0028 | -11 | c.242 others(28): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 21/21 | chr10 | TogoVar | ||||||
HELQ_chr4_83402346_83460823 | 83426247 | TAGGATAT others(4): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 316 | 0.0032 | -11 | c.267 others(28): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 13/17 | chr4 | TogoVar | ||||||
HELQ_chr4_83402346_83460823 | 83450222 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02965.hp1 others(1): Show |
a0003a0013 | a0003c0003a0013c0013 | a0003c0003t0002a0013c0013t0002 | a0003c0003t0002g0030a0003c0003t0002g0234a0013c0013t0002g0255 | 4 | 316 | 0.0127 | -11 | c.101 others(30): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 2/17 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185022278 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 454 | 0.0022 | -11 | c.*15 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 1326 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023028 | TTTCTCTC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 454 | 0.0022 | -11 | c.*22 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2076 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023067 | CTCTCTCT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 454 | 0.0088 | -11 | c.*22 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2115 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185023068 | TCTCTCTC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG02004.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(2): Show | 15 | 454 | 0.0330 | -11 | c.*22 others(22): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2116 | chr4 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67118692 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0216 | 1 | 274 | 0.0037 | -11 | c.383 others(30): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 27/32 | chr17 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67232052 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0097a0001c0001t0017g0098 | 2 | 274 | 0.0073 | -11 | c.-19 others(28): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 3/32 | chr17 | TogoVar | ||||||
HEMGN_chr9_97921791_97943172 | 97923065 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0074a0001c0001t0006g0076 | 2 | 314 | 0.0064 | -11 | c.*43 others(22): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
HEPACAM_chr11_124914205_124941047 | 124920678 | CAAAAAAA others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19080.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0056a0001c0001t0037g0057 | 2 | 420 | 0.0048 | -11 | c.*44 others(20): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 7/7 | 449 | chr11 | TogoVar | |||||
HEPACAM_chr11_124914205_124941047 | 124922606 | CTCCTCTG others(4): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0004 | a0004c0005 | a0004c0005t0022 | a0004c0005t0022g0064 | 1 | 420 | 0.0024 | -11 | c.877 others(26): Show |
HEPACAM | ENSG00000165478.8 | transcript | ENST00000298251.5 | protein_coding | 5/6 | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94019136 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0029others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0007t0004others(7): Show | a0001c0001t0003g0022a0001c0001t0007g0017a0001c0007t0004g0015others(19): Show | 22 | 368 | 0.0598 | -11 | c.-22 others(22): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2217 | chr11 | TogoVar | ||||||
HEPH_chrX_66159247_66272389 | 66206339 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046 | 1 | 218 | 0.0046 | -11 | c.229 others(28): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HEPN1_chr11_124914250_124925677 | 124920678 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18977.hp1 NA19080.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 428 | 0.0070 | -11 | c.*66 others(20): Show |
HEPN1 | ENSG00000221932.7 | transcript | ENST00000408930.7 | protein_coding | 2 | chr11 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63604932 | ATCCCAGC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0021 | 1 | 216 | 0.0046 | -11 | c.*41 others(22): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 3685 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63671203 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 216 | 0.0046 | -11 | c.804 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 39/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63703109 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02970.hp1 |
a0002a0008 | a0002c0017a0008c0036 | a0002c0017t0001a0008c0036t0002 | a0002c0017t0001g0103a0002c0017t0001g0104a0008c0036t0002g0098 | 3 | 216 | 0.0139 | -11 | c.463 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 25/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63737505 | TCTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02738.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003a0002c0003t0002g0004a0002c0003t0002g0027 | 3 | 216 | 0.0139 | -11 | c.252 others(30): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826805 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 216 | 0.0046 | -11 | c.-27 others(28): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28108386 | GAAAAAAA others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0108 | 1 | 250 | 0.0040 | -11 | c.*33 others(22): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2653 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28119399 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01891.hp2 HG01981.hp1 others(12): Show |
a0003a0004a0010 | a0003c0004a0004c0006a0004c0012others(2): Show | a0003c0004t0002a0004c0006t0002a0004c0012t0002others(2): Show | a0003c0004t0002g0022a0003c0004t0002g0026a0003c0004t0002g0033others(12): Show | 15 | 250 | 0.0600 | -11 | c.132 others(32): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 86/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28206832 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 HG02055.hp2 others(11): Show |
a0001a0003a0004others(2): Show | a0001c0013a0003c0039a0003c0068others(4): Show | a0001c0013t0002a0003c0039t0002a0003c0068t0006others(5): Show | a0001c0013t0002g0243a0001c0013t0002g0244a0001c0013t0002g0245others(11): Show | 14 | 250 | 0.0560 | -11 | c.707 others(28): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 44/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28291909 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0059 | a0003c0059t0002 | a0003c0059t0002g0016 | 1 | 250 | 0.0040 | -11 | c.322 others(26): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4/92 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28300823 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0005t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0005t0003g0166others(24): Show | 27 | 250 | 0.1080 | -11 | c.73- others(26): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | ||||||
HERC3_chr4_88587480_88713539 | 88595841 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03209.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004a0001c0004t0017 | a0001c0004t0001g0188a0001c0004t0004g0189a0001c0004t0017g0187 | 3 | 296 | 0.0101 | -11 | c.-30 others(26): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERC4_chr10_67916905_68080283 | 67924831 | CAGTTTAT others(4): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 360 | 0.0028 | -11 | c.294 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 24/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927411 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 360 | 0.0028 | -11 | c.283 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927413 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00639.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0036others(16): Show | 19 | 360 | 0.0528 | -11 | c.283 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927415 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0198a0001c0002t0005g0320 | 2 | 360 | 0.0056 | -11 | c.283 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67927417 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0311 | 1 | 360 | 0.0028 | -11 | c.283 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 23/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67934873 | AATCTTGA others(4): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0353 | 1 | 360 | 0.0028 | -11 | c.265 others(30): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 22/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 67941669 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0357 | 1 | 360 | 0.0028 | -11 | c.233 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 19/24 | chr10 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68051341 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(96): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0080others(96): Show | 99 | 360 | 0.2750 | -11 | c.227 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HERC5_chr4_88452119_88511163 | 88477267 | GAGGGAAG others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 HG03491.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0041others(2): Show | 7 | 330 | 0.0212 | -11 | c.158 others(30): Show |
HERC5 | ENSG00000138646.9 | transcript | ENST00000264350.8 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35631709 | ATATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 392 | 0.0026 | -11 | c.*19 others(22): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 949 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35632085 | ATATAATT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01255.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(13): Show | 16 | 392 | 0.0408 | -11 | c.*15 others(22): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 573 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35678853 | AATTTGTC others(4): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0218 | 1 | 392 | 0.0026 | -11 | c.148 others(28): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HES2_chr1_6410232_6424919 | 6416385 | TGGAGAGC others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0019 | 2 | 362 | 0.0055 | -11 | c.*24 others(22): Show |
HES2 | ENSG00000069812.11 | transcript | ENST00000377834.8 | protein_coding | 4/4 | 2477 | chr1 | TogoVar | |||||
HES3_chr1_6239179_6250578 | 6240862 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 NA19012.hp2 NA19067.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0002 | 3 | 384 | 0.0078 | -11 | c.-33 others(22): Show |
HES3 | ENSG00000173673.9 | transcript | ENST00000377898.4 | protein_coding | 3316 | chr1 | TogoVar | ||||||
HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp2 NA18982.hp2 NA19001.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0014a0001c0001t0001g0071a0001c0001t0001g0072others(2): Show | 6 | 396 | 0.0152 | -11 | c.445 others(28): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |