view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HECW1_chr7_43107647_43571001 | 43315465 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 others(67): Show |
70 | 182 | 0.3846 | -9 | c.352 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43336190 | CTCTCTCT others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 NA18957.hp1 NA19087.hp1 |
a0001a0005 | a0001c0002a0001c0006a0005c0026 | a0001c0002t0004a0001c0006t0003a0005c0026t0025 | a0001c0002t0004g0011 a0001c0006t0003g0150 a0005c0026t0025g0149 |
3 | 182 | 0.0165 | -9 | c.460 others(28): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43392295 | TGTAAATG others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 |
a0003 | a0003c0008 | a0003c0008t0010a0003c0008t0037 | a0003c0008t0010g0081 a0003c0008t0037g0016 |
2 | 182 | 0.0110 | -9 | c.556 others(26): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43566615 | TTTATTAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02165.hp2 HG03491.hp2 NA18941.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0015a0001c0002t0003others(3): Show | a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0046 others(6): Show |
9 | 182 | 0.0495 | -9 | c.*46 others(20): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 615 | chr7 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196235648 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0002g0065 a0001c0001t0005g0069 a0001c0001t0005g0079 others(9): Show |
12 | 112 | 0.1071 | -9 | c.376 others(28): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 21/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196460776 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0003g0018 others(12): Show |
15 | 112 | 0.1339 | -9 | c.-35 others(28): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196507158 | CACACACT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG03239.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0013 a0001c0001t0003g0018 a0001c0001t0006g0019 others(1): Show |
4 | 112 | 0.0357 | -9 | c.-35 others(28): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94575766 | TGTGTTTG others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp1 HG01261.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0136 others(16): Show |
19 | 358 | 0.0531 | -9 | c.889 others(24): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 9/21 | chr10 | TogoVar | |||||||
HELLS_chr10_94540788_94607099 | 94578070 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02071.hp1 others(28): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0008 | a0001c0001t0001a0001c0002t0001a0010c0008t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(25): Show |
31 | 358 | 0.0866 | -9 | c.103 others(28): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HELQ_chr4_83402346_83460823 | 83419083 | CCACAGGC others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03139.hp2 HG03540.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0004a0004c0005a0006c0008others(1): Show | a0001c0004t0001a0004c0005t0002a0006c0008t0001others(1): Show | a0001c0004t0001g0116 a0004c0005t0002g0230 a0006c0008t0001g0122 others(1): Show |
4 | 316 | 0.0127 | -9 | c.295 others(26): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 15/17 | chr4 | TogoVar | |||||||
HELQ_chr4_83402346_83460823 | 83452974 | TGAGGAAT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp2 others(51): Show |
a0003a0004a0007others(2): Show | a0003c0003a0003c0015a0003c0016others(6): Show | a0003c0003t0002a0003c0015t0001a0003c0016t0001others(7): Show | a0003c0003t0002g0011 a0003c0003t0002g0030 a0003c0003t0002g0233 others(45): Show |
54 | 316 | 0.1709 | -9 | c.101 others(26): Show |
HELQ | ENSG00000163312.11 | transcript | ENST00000295488.8 | protein_coding | 2/17 | chr4 | TogoVar | |||||||
HELT_chr4_185013490_185025953 | 185023067 | CTCTCTCT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
8 | 454 | 0.0176 | -9 | c.*22 others(20): Show |
HELT | ENSG00000187821.9 | transcript | ENST00000515777.6 | protein_coding | 2115 | chr4 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63559558 | AGGAGTCA others(2): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG02080.hp1 others(3): Show |
a0001a0002a0033others(1): Show | a0001c0001a0002c0005a0033c0023others(1): Show | a0001c0001t0009a0002c0005t0006a0002c0005t0011others(2): Show | a0001c0001t0009g0129 a0002c0005t0006g0275 a0002c0005t0006g0303 others(3): Show |
6 | 390 | 0.0154 | -9 | c.782 others(26): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63570115 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
a0001a0002a0006others(18): Show | a0001c0001a0002c0002a0002c0005others(29): Show | a0001c0001t0010a0002c0002t0005a0002c0002t0006others(54): Show | a0001c0001t0010g0047 a0002c0002t0005g0006 a0002c0002t0005g0032 others(84): Show |
99 | 390 | 0.2539 | -9 | c.570 others(24): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 4/19 | chr20 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94019136 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(43): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0027a0006c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 others(42): Show |
46 | 368 | 0.1250 | -9 | c.-22 others(20): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2217 | chr11 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94056656 | ATTATCTA others(2): Show |
A | intron_variant | MODIFIER | NA18957.hp2 NA18974.hp2 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0341 others(2): Show |
5 | 368 | 0.0136 | -9 | c.416 others(26): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94066555 | CAAAAGAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 HG03579.hp1 |
a0001a0007 | a0001c0029a0007c0008 | a0001c0029t0010a0007c0008t0010 | a0001c0029t0010g0052 a0007c0008t0010g0053 a0007c0008t0010g0054 |
3 | 368 | 0.0082 | -9 | c.809 others(24): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HERC2_chr15_28106040_28327179 | 28316222 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 HG02896.hp1 others(4): Show |
a0001a0003a0004 | a0001c0013a0003c0075a0004c0012others(1): Show | a0001c0013t0002a0003c0075t0002a0004c0012t0002others(1): Show | a0001c0013t0002g0243 a0001c0013t0002g0244 a0001c0013t0002g0245 others(4): Show |
7 | 250 | 0.0280 | -9 | c.72+ others(24): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 2/92 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28326611 | ACAAAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(6): Show |
a0001a0004a0014others(1): Show | a0001c0008a0004c0030a0014c0033others(1): Show | a0001c0008t0001a0004c0030t0002a0014c0033t0001others(1): Show | a0001c0008t0001g0108 a0001c0008t0001g0132 a0001c0008t0001g0133 others(6): Show |
9 | 250 | 0.0360 | -9 | c.-45 others(20): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4433 | chr15 | TogoVar | |||||||
HERC3_chr4_88587480_88713539 | 88627904 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0200 others(48): Show |
53 | 296 | 0.1791 | -9 | c.226 others(28): Show |
HERC3 | ENSG00000138641.18 | transcript | ENST00000402738.6 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059648 | ATTATATA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0003t0004a0001c0005t0003 | a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0344 others(7): Show |
10 | 360 | 0.0278 | -9 | c.226 others(28): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC5_chr4_88452119_88511163 | 88454898 | GGGCACTG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0018 a0001c0001t0001g0238 a0004c0005t0001g0003 |
4 | 330 | 0.0121 | -9 | c.-23 others(20): Show |
HERC5 | ENSG00000138646.9 | transcript | ENST00000264350.8 | protein_coding | 2220 | chr4 | TogoVar | |||||||
HERC6_chr4_88373852_88448097 | 88439395 | AAAGGGAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03195.hp2 NA18906.hp2 |
a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0006 a0008c0009t0002g0099 a0008c0009t0002g0100 |
3 | 174 | 0.0172 | -9 | c.255 others(26): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 20/22 | chr4 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35668069 | GCTAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(162): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0002g0257 a0001c0001t0002g0283 a0001c0001t0004g0229 others(162): Show |
165 | 392 | 0.4209 | -9 | c.340 others(24): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
HES5_chr1_2523745_2535263 | 2529579 | TGGCGGGC others(2): Show |
T | conservative_inframe_deletion | MODERATE | NA18944.hp2 NA18955.hp1 NA18960.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 5 | 427 | 0.0117 | -9 | c.382 others(16): Show |
p.Ala others(13): Show |
HES5 | ENSG00000197921.6 | transcript | ENST00000378453.4 | protein_coding | 3/3 | 489/1324 | 382/501 | 128/166 | chr1 | TogoVar | |||
HEY2_chr6_125744632_125766269 | 125758153 | GTGCCCTA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0013 others(66): Show |
211 | 400 | 0.5275 | -9 | c.329 others(24): Show |
HEY2 | ENSG00000135547.9 | transcript | ENST00000368364.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HGSNAT_chr8_43135464_43207855 | 43195518 | AGAAGAGG others(2): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | 234 | 0.0086 | -9 | c.146 others(28): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210370163 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01070.hp1 others(38): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0090 others(38): Show |
41 | 268 | 0.1530 | -9 | c.159 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210410523 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(32): Show |
a0002a0005 | a0002c0003a0002c0010a0005c0009 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(7): Show | a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0230 others(32): Show |
35 | 268 | 0.1306 | -9 | c.684 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210494542 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG01517.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0004g0148 a0001c0002t0002g0021 a0001c0002t0002g0033 others(3): Show |
6 | 268 | 0.0224 | -9 | c.100 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210569373 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0076 a0001c0001t0002g0069 a0001c0001t0002g0071 others(6): Show |
9 | 268 | 0.0336 | -9 | c.104 others(30): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210614018 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01074.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0185 others(20): Show |
23 | 268 | 0.0858 | -9 | c.124 others(28): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210673777 | ATTTATTT others(2): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0008 | a0001c0001t0008g0004 a0001c0002t0008g0126 a0001c0002t0008g0141 |
3 | 268 | 0.0112 | -9 | c.139 others(26): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99680575 | ATAATATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0007others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0187 a0001c0002t0003g0008 a0001c0002t0003g0009 others(80): Show |
86 | 374 | 0.2300 | -9 | c.*49 others(20): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 7 | chr14 | TogoVar | |||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02027.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0005a0003c0007others(3): Show | a0001c0003t0001a0002c0005t0001a0003c0007t0001others(3): Show | a0001c0003t0001g0032 a0001c0003t0001g0036 a0001c0003t0001g0296 others(14): Show |
18 | 418 | 0.0431 | -9 | c.-41 others(20): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HIBADH_chr7_27520442_27667883 | 27613148 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 NA18747.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 a0001c0002t0001g0258 a0001c0002t0001g0259 others(6): Show |
9 | 326 | 0.0276 | -9 | c.484 others(28): Show |
HIBADH | ENSG00000106049.9 | transcript | ENST00000265395.7 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190265122 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00673.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0086 others(74): Show |
80 | 368 | 0.2174 | -9 | c.439 others(26): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
HID1_chr17_74945742_74977759 | 74976742 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01257.hp1 HG02055.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0008t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0103 others(6): Show |
11 | 364 | 0.0302 | -9 | c.-40 others(20): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3984 | chr17 | TogoVar | |||||||
HIF1A_chr14_61690513_61753258 | 61708957 | GTGTAATC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(48): Show |
56 | 322 | 0.1739 | -9 | c.36- others(26): Show |
HIF1A | ENSG00000100644.17 | transcript | ENST00000337138.9 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86316771 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG01975.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(18): Show |
22 | 398 | 0.0553 | -9 | c.268 others(28): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122864109 | GCCCCCCC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG01109.hp1 others(19): Show |
a0002a0003a0010others(1): Show | a0002c0002a0003c0003a0010c0025others(1): Show | a0002c0002t0001a0002c0002t0004a0003c0003t0002others(2): Show | a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0039 others(16): Show |
22 | 348 | 0.0632 | -9 | c.*23 others(20): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 1149 | chr12 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75589564 | TTCTAGCT others(2): Show |
T | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0016 | a0001c0001t0002g0029 a0001c0003t0016g0137 |
2 | 254 | 0.0079 | -9 | c.384 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 4/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75598772 | ACCTGTAG others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02809.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0022 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0003g0014 a0001c0001t0003g0028 a0001c0001t0003g0049 others(5): Show |
8 | 254 | 0.0315 | -9 | c.184 others(24): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75602303 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00738.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0001g0108 others(24): Show |
27 | 254 | 0.1063 | -9 | c.121 others(26): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75640752 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(56): Show |
59 | 254 | 0.2323 | -9 | c.121 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75651460 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02258.hp1 HG02258.hp2 others(21): Show |
a0001a0008a0011 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0023 a0001c0001t0002g0029 a0001c0001t0002g0056 others(21): Show |
24 | 254 | 0.0945 | -9 | c.121 others(28): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75739988 | TTTTTGTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03139.hp1 others(4): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0022 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0029 a0001c0001t0003g0028 a0001c0001t0006g0025 others(4): Show |
7 | 254 | 0.0276 | -9 | c.-10 others(20): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1048 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139670750 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03471.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0074a0001c0006t0015 | a0001c0003t0074g0036 a0001c0006t0015g0116 |
2 | 154 | 0.0130 | -9 | c.110 others(30): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139670751 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0021others(17): Show | a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0020g0002 others(24): Show |
27 | 154 | 0.1753 | -9 | c.110 others(30): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139673885 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0009a0001c0002t0002a0001c0003t0108others(1): Show | a0001c0001t0009g0123 a0001c0001t0009g0124 a0001c0002t0002g0045 others(2): Show |
5 | 154 | 0.0325 | -9 | c.110 others(30): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar |