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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECTD4_chr12_112155195_112387431 | 112189550 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 HG01109.hp2 others(28): Show |
a0001a0002a0011 | a0001c0001a0001c0013a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0006a0001c0001t0003g0011a0001c0001t0003g0014others(28): Show | 31 | 270 | 0.1148 | 7 | c.947 others(26): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 60/75 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43319601 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0016a0001c0001t0030others(3): Show | a0001c0001t0001g0100a0001c0001t0016g0049a0001c0001t0030g0098others(3): Show | 6 | 182 | 0.0330 | 7 | c.353 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43319775 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0072others(89): Show | 92 | 182 | 0.5055 | 7 | c.353 others(22): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43328319 | A | AAACAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0038a0001c0001t0004g0017a0001c0001t0004g0023others(38): Show | 41 | 182 | 0.2253 | 7 | c.460 others(24): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43422927 | C | CCGAGAGT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(54): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0062a0001c0001t0001g0064a0001c0001t0001g0114others(54): Show | 57 | 182 | 0.3132 | 7 | c.802 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW1_chr7_43107647_43571001 | 43425293 | A | AGATAGAT | intron_variant | MODIFIER | HG02280.hp2 NA18971.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0024a0001c0006t0019 | a0001c0001t0024g0070a0001c0006t0019g0073 | 2 | 182 | 0.0110 | 7 | c.802 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HECW2_chr2_196189072_196598554 | 196269496 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01169.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0018a0001c0001t0025others(2): Show | a0001c0001t0006g0026a0001c0001t0018g0033a0001c0001t0025g0021others(4): Show | 7 | 112 | 0.0625 | 7 | c.333 others(26): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 17/28 | chr2 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125036209 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(122): Show |
a0001a0006a0009others(14): Show | a0001c0001a0001c0002a0001c0010others(20): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(78): Show | a0001c0001t0004g0275a0001c0001t0004g0276a0001c0001t0004g0277others(121): Show | 125 | 362 | 0.3453 | 7 | c.317 others(24): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
HEG1_chr3_124960710_125060997 | 125055935 | A | AGGGCAGC | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0010others(52): Show | a0001c0001t0007a0001c0001t0010a0001c0001t0011others(131): Show | a0001c0001t0007g0113a0001c0001t0010g0068a0001c0001t0011g0081others(200): Show | 209 | 362 | 0.5774 | 7 | c.-52 others(14): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 1/17 | 46 | chr3 | TogoVar | |||||
HELQ_chr4_83402346_83460823 | 83438748 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02451.hp1 others(33): Show |
a0001a0003a0004others(4): Show | a0001c0004a0003c0003a0003c0015others(7): Show | a0001c0004t0001a0003c0003t0002a0003c0015t0001others(8): Show | a0001c0004t0001g0116a0003c0003t0002g0011a0003c0003t0002g0030others(29): Show | 36 | 316 | 0.1139 | 7 | c.180 others(26): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 8/17 | chr4 | TogoVar | ||||||
HELT_chr4_185013490_185025953 | 185022278 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01943.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0003a0001c0001t0002g0010a0002c0002t0001g0004 | 17 | 454 | 0.0374 | 7 | c.*15 others(18): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 1326 | chr4 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63559780 | C | CAGATGGG | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp1 others(58): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0060a0001c0063others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0125a0001c0001t0001g0132a0001c0001t0002g0128others(50): Show | 61 | 390 | 0.1564 | 7 | c.782 others(24): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63578390 | A | AAAGGGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001a0002a0003others(57): Show | a0001c0001a0001c0006a0001c0022others(88): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(154): Show | a0001c0001t0001g0111a0001c0001t0001g0125a0001c0001t0001g0132others(213): Show | 242 | 390 | 0.6205 | 7 | c.-50 others(18): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 4152 | chr20 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67119993 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01070.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0088a0001c0001t0001g0183a0001c0001t0001g0184others(20): Show | 23 | 274 | 0.0839 | 7 | c.383 others(24): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 27/32 | chr17 | TogoVar | ||||||
HEMGN_chr9_97921791_97943172 | 97923065 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01975.hp2 HG01993.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004a0001c0002t0003g0008a0001c0002t0003g0080others(1): Show | 9 | 314 | 0.0287 | 7 | c.*43 others(18): Show |
HEMGN | ENSG00000136929.13 | transcript | ENST00000616898.2 | protein_coding | 3725 | chr9 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94046091 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(81): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0166a0001c0001t0001g0168others(79): Show | 84 | 368 | 0.2283 | 7 | c.415 others(22): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94056657 | T | TATCTATC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(53): Show |
a0001a0016a0018 | a0001c0001a0001c0006a0001c0027others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0026others(51): Show | 56 | 368 | 0.1522 | 7 | c.416 others(24): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | chr11 | TogoVar | ||||||
HEPH_chrX_66159247_66272389 | 66206339 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp2 HG02257.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0181a0001c0002t0001g0042others(2): Show | 5 | 218 | 0.0229 | 7 | c.229 others(24): Show |
HEPH | ENSG00000089472.18 | transcript | ENST00000343002.7 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HERC1_chr15_63603618_63838948 | 63700708 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01168.hp2 others(10): Show |
a0002a0020 | a0002c0003a0002c0028a0020c0039 | a0002c0003t0002a0002c0028t0002a0020c0039t0002 | a0002c0003t0002g0003a0002c0003t0002g0004a0002c0003t0002g0005others(10): Show | 13 | 216 | 0.0602 | 7 | c.463 others(26): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 25/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826800 | A | ATATATAT | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0188a0001c0020t0001g0119 | 2 | 216 | 0.0093 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826802 | A | ATATATAT | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0120a0001c0001t0001g0186a0001c0006t0001g0002others(1): Show | 5 | 216 | 0.0232 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC1_chr15_63603618_63838948 | 63826806 | A | ATATATAT | intron_variant | MODIFIER | HG01258.hp2 HG02647.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0151a0001c0001t0001g0193a0001c0013t0001g0172 | 3 | 216 | 0.0139 | 7 | c.-27 others(24): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28321530 | G | GGTTCAAT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(106): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0011others(34): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(37): Show | a0001c0001t0001g0036a0001c0003t0001g0017a0001c0003t0001g0185others(106): Show | 109 | 250 | 0.4360 | 7 | c.-31 others(20): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 1/92 | chr15 | TogoVar | ||||||
HES4_chr1_993964_1005097 | 1002415 | C | CATTTTTT | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02080.hp1 NA18993.hp2 |
a0000a0001 | a0000c0005a0001c0001 | a0000c0005t0001a0001c0001t0001 | a0000c0005t0001g0015a0001c0001t0001g0001 | 3 | 396 | 0.0076 | 7 | c.-24 others(18): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2319 | chr1 | TogoVar | ||||||
HEXIM2_chr17_45156875_45175035 | 45167024 | C | CAAAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0068a0001c0001t0001g0072others(6): Show | 9 | 446 | 0.0202 | 7 | c.67- others(22): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HEXIM2_chr17_45156875_45175035 | 45174848 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(211): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(84): Show | 214 | 446 | 0.4798 | 7 | c.*50 others(18): Show |
HEXIM2 | ENSG00000168517.11 | transcript | ENST00000589230.6 | protein_coding | 4814 | chr17 | TogoVar | ||||||
HFE_chr6_26082429_26103343 | 26090442 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02698.hp1 HG02717.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0051others(4): Show | a0001c0001t0001g0079a0001c0001t0003g0040a0001c0001t0051g0159others(7): Show | 11 | 402 | 0.0274 | 7 | c.77- others(20): Show |
HFE | ENSG00000010704.19 | transcript | ENST00000357618.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0016a0001c0001t0001g0260a0001c0001t0001g0263others(11): Show | 14 | 362 | 0.0387 | 7 | c.397 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | ||||||
HFM1_chr1_91255766_91409837 | 91272543 | A | AGACAAGC | intron_variant | MODIFIER | HG02886.hp2 NA19240.hp1 NA21309.hp2 |
a0001a0005 | a0001c0015a0005c0008 | a0001c0015t0001a0005c0008t0001 | a0001c0015t0001g0140a0005c0008t0001g0319a0005c0008t0001g0320 | 3 | 362 | 0.0083 | 7 | c.377 others(26): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 34/38 | chr1 | TogoVar | ||||||
HGF_chr7_81694010_81775047 | 81708524 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0075a0001c0001t0008g0029a0001c0001t0008g0066others(4): Show | 7 | 272 | 0.0257 | 7 | c.154 others(26): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 13/17 | chr7 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210336287 | A | ATTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0180a0001c0001t0001g0185a0001c0001t0001g0200others(11): Show | 14 | 268 | 0.0522 | 7 | c.-44 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210365315 | T | TTTTTTTG | intron_variant | MODIFIER | HG01081.hp2 HG01981.hp2 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0082a0001c0001t0002g0071a0001c0001t0003g0138others(10): Show | 13 | 268 | 0.0485 | 7 | c.159 others(24): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210496010 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0001t0001g0117others(48): Show | 51 | 268 | 0.1903 | 7 | c.100 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210502383 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02723.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0144a0001c0001t0001g0204a0001c0001t0003g0138others(6): Show | 9 | 268 | 0.0336 | 7 | c.100 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210520019 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0095others(126): Show | 129 | 268 | 0.4813 | 7 | c.104 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210590542 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0090a0001c0001t0001g0096a0001c0001t0001g0111others(21): Show | 24 | 268 | 0.0896 | 7 | c.124 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHEX_chr10_92684955_92700647 | 92685171 | T | TAACATAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 355 | 374 | 0.9492 | 7 | c.-48 others(18): Show |
HHEX | ENSG00000152804.11 | transcript | ENST00000282728.10 | protein_coding | 4783 | chr10 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222534577 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00741.hp1 others(39): Show |
a0001a0004a0012 | a0001c0001a0001c0003a0004c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0004c0006t0001others(2): Show | a0001c0001t0001g0059a0001c0001t0001g0107a0001c0003t0001g0009others(27): Show | 42 | 418 | 0.1005 | 7 | c.157 others(26): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27527917 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0022others(6): Show | 9 | 326 | 0.0276 | 7 | c.853 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27626104 | G | GAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG01361.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0029a0001c0001t0001g0041a0001c0001t0001g0050others(23): Show | 26 | 326 | 0.0798 | 7 | c.484 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
HIBADH_chr7_27520442_27667883 | 27645368 | A | ATGTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0030others(36): Show | 39 | 326 | 0.1196 | 7 | c.252 others(24): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
HIC2_chr22_21412371_21456463 | 21416994 | G | GTAGCCCC | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018a0001c0001t0006g0195a0001c0001t0006g0197 | 4 | 288 | 0.0139 | 7 | c.-64 others(16): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 376 | chr22 | TogoVar | ||||||
HIC2_chr22_21412371_21456463 | 21425165 | T | TAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(1): Show | a0001c0001t0002g0055a0001c0001t0002g0081a0001c0001t0002g0212others(8): Show | 12 | 288 | 0.0417 | 7 | c.-74 others(24): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HIGD2B_chr15_72670798_72691182 | 72688411 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG01258.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(20): Show | 34 | 436 | 0.0780 | 7 | c.-27 others(18): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 2230 | chr15 | TogoVar | ||||||
HIKESHI_chr11_86297240_86350943 | 86307085 | A | ATATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(283): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(260): Show | 286 | 398 | 0.7186 | 7 | c.268 others(22): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01358.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0112a0001c0001t0001g0121a0001c0001t0002g0002others(16): Show | 21 | 398 | 0.0528 | 7 | c.268 others(26): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HINFP_chr11_119116580_119141059 | 119123128 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01952.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0006a0001c0001t0008a0002c0002t0001others(1): Show | a0001c0001t0006g0206a0001c0001t0006g0207a0001c0001t0008g0218others(4): Show | 7 | 404 | 0.0173 | 7 | c.-11 others(24): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HINT3_chr6_125951770_125985244 | 125975584 | G | GTTTTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0002 | a0001c0001t0008g0087a0001c0001t0008g0089a0002c0002t0002g0017others(3): Show | 7 | 268 | 0.0261 | 7 | c.516 others(22): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIP1_chr7_75528298_75743941 | 75551189 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02258.hp1 others(6): Show |
a0001a0005a0010 | a0001c0001a0001c0003a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0169a0001c0001t0005g0236a0001c0001t0008g0212others(6): Show | 9 | 254 | 0.0354 | 7 | c.229 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 22/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75597739 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0051a0001c0001t0001g0071others(21): Show | 24 | 254 | 0.0945 | 7 | c.184 others(24): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar |