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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GUCY2C_chr12_14607632_14701599 | 14684586 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0100 others(15): Show |
19 | 132 | 0.1439 | -27 | c.396 others(44): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14684590 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 188 | 0.0106 | -27 | c.396 others(44): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3/26 | chr12 | TogoVar | |||||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 52 | 0.0192 | -27 | c.117 others(46): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129540491 | TATATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 420 | 0.0024 | -27 | c.-27 others(38): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2683 | chr3 | TogoVar | |||||||
H2AZ2_chr7_44826978_44853087 | 44843154 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02970.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0102 a0001c0001t0014g0103 a0001c0001t0014g0104 |
3 | 404 | 0.0074 | -27 | c.81+ others(39): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
HABP2_chr10_113548053_113594602 | 113589640 | GGGTGGCT others(20): Show |
G | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0317 | 1 | 444 | 0.0023 | -27 | c.*12 others(38): Show |
HABP2 | ENSG00000148702.15 | transcript | ENST00000351270.4 | protein_coding | 39 | chr10 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65537947 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02886.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0151 a0001c0001t0001g0224 others(3): Show |
6 | 308 | 0.0195 | -27 | c.87+ others(42): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537949 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00642.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(38): Show |
49 | 297 | 0.1650 | -27 | c.87+ others(42): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537951 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0010 a0001c0001t0017g0118 |
2 | 311 | 0.0064 | -27 | c.87+ others(42): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACD3_chr15_65525463_65583349 | 65537953 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0271 |
2 | 303 | 0.0066 | -27 | c.87+ others(42): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104831946 | AAGAGAAG others(20): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0076 others(1): Show |
4 | 340 | 0.0118 | -27 | c.534 others(44): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
HAP1_chr17_41717640_41739643 | 41727687 | TGCCAAGG others(20): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0153 | 1 | 372 | 0.0027 | -27 | c.127 others(42): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 8/10 | chr17 | TogoVar | |||||||
HAUS1_chr18_46099385_46133333 | 46113007 | GAATATAT others(20): Show |
G | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 257 | 0.0039 | -27 | c.206 others(44): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HBM_chr16_160978_171764 | 163482 | GGGGACCG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 368 | 0.0027 | -27 | c.-25 others(38): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 2495 | chr16 | TogoVar | |||||||
HBM_chr16_160978_171764 | 164893 | GGGGCGGG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -27 | c.-11 others(38): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1084 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186152 | GGGGAACA others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02080.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 353 | 0.0170 | -27 | c.*50 others(38): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4974 | chr16 | TogoVar | |||||||
HCK_chr20_32047242_32106856 | 32054475 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 32 | 0.0313 | -27 | c.62+ others(42): Show |
HCK | ENSG00000101336.18 | transcript | ENST00000375852.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45372045 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(26): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0098 others(26): Show |
29 | 224 | 0.1295 | -27 | c.123 others(48): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45373977 | GATACATA others(20): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0212 a0001c0001t0007g0115 a0001c0001t0007g0214 |
3 | 211 | 0.0142 | -27 | c.123 others(48): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45683933 | AGTGCTAG others(20): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 224 | 0.0045 | -27 | c.425 others(46): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 1/7 | chr5 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232533 | TCCAAGGG others(20): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0012 | a0001c0012t0030 | a0001c0012t0030g0225 | 1 | 240 | 0.0042 | -27 | c.94+ others(42): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232575 | TCCCTCAC others(20): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG02055.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0066others(10): Show | a0001c0001t0001g0140 a0001c0001t0014g0158 a0001c0001t0066g0007 others(10): Show |
13 | 239 | 0.0544 | -27 | c.94+ others(42): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232709 | TCCCTCAC others(20): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0117 | 1 | 152 | 0.0066 | -27 | c.94+ others(42): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239232900 | CCAAGCCA others(20): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0053 | 1 | 240 | 0.0042 | -27 | c.94+ others(42): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737391 | GTTTTTCC others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(89): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(14): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(88): Show |
92 | 213 | 0.4319 | -27 | c.252 others(46): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737468 | TATCTTTT others(20): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0054 a0002c0003t0002g0055 |
2 | 214 | 0.0093 | -27 | c.252 others(46): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737489 | TATATACA others(20): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0018 | a0018c0039 | a0018c0039t0002 | a0018c0039t0002g0082 | 1 | 213 | 0.0047 | -27 | c.252 others(46): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28119399 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(181): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0003a0001c0005others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(49): Show | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0099 others(181): Show |
184 | 189 | 0.9735 | -27 | c.132 others(48): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 86/92 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28286181 | CTATTAAG others(20): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0167 | 1 | 248 | 0.0040 | -27 | c.323 others(44): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 4/92 | chr15 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631914 | TAATATAT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0196 | 1 | 280 | 0.0036 | -27 | c.*17 others(38): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 744 | chr7 | TogoVar | |||||||
HEXB_chr5_74680233_74726288 | 74690649 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(100): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
103 | 105 | 0.9810 | -27 | c.445 others(44): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433116 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 394 | 0.0025 | -27 | c.283 others(42): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79768291 | ACGGCGAC others(20): Show |
A | upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 454 | 0.0022 | -27 | c.-65 others(36): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 525 | chr8 | TogoVar | |||||||
HHIPL1_chr14_99640129_99685569 | 99656849 | AAGGAAGG others(20): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG02055.hp2 others(11): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(3): Show | a0001c0002t0002a0002c0001t0001a0002c0001t0018others(5): Show | a0001c0002t0002g0239 a0002c0001t0001g0025 a0002c0001t0001g0026 others(11): Show |
14 | 355 | 0.0394 | -27 | c.903 others(42): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656865 | AAGGAAGG others(20): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0003t0002a0002c0004t0001 | a0001c0002t0002g0115 a0001c0002t0002g0124 a0001c0003t0002g0004 others(4): Show |
7 | 371 | 0.0189 | -27 | c.903 others(42): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL2_chr1_222517264_222553104 | 222552222 | TAAAAAAA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01975.hp2 HG02056.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0174 a0002c0004t0001g0044 others(6): Show |
9 | 11 | 0.8182 | -27 | c.-42 others(38): Show |
HHIPL2 | ENSG00000143512.13 | transcript | ENST00000343410.7 | protein_coding | 4119 | chr1 | TogoVar | |||||||
HHIP_chr4_144641156_144750271 | 144742832 | GTTATATA others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0082 | 1 | 314 | 0.0032 | -27 | c.*48 others(38): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 4892 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HID1_chr17_74945742_74977759 | 74976728 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 362 | 0.0028 | -27 | c.-40 others(38): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3970 | chr17 | TogoVar | |||||||
HIF1AN_chr10_100530943_100564998 | 100552205 | GTGACTTG others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02970.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 3 | 318 | 0.0094 | -27 | c.*40 others(38): Show |
HIF1AN | ENSG00000166135.14 | transcript | ENST00000299163.7 | protein_coding | 8/8 | 4069 | chr10 | TogoVar | ||||||
HIGD2B_chr15_72670798_72691182 | 72674418 | TGTATAGA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 434 | 0.0023 | -27 | c.*16 others(38): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 1379 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86309709 | ACATGTAA others(20): Show |
A | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 396 | 0.0025 | -27 | c.268 others(44): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
HINFP_chr11_119116580_119141059 | 119130671 | GTGACCTG others(20): Show |
G | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 402 | 0.0025 | -27 | c.182 others(40): Show |
HINFP | ENSG00000172273.13 | transcript | ENST00000350777.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75637991 | CCCACACA others(20): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0099 a0001c0001t0004g0100 |
2 | 244 | 0.0082 | -27 | c.121 others(46): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HLA-C_chr6_31263749_31277092 | 31274093 | CTTTTTTT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG02922.hp1 NA18970.hp2 others(2): Show |
a0019 | a0019c0021 | a0019c0021t0013 | a0019c0021t0013g0022 | 5 | 44 | 0.1136 | -27 | c.-20 others(38): Show |
HLA-C | ENSG00000204525.18 | transcript | ENST00000376228.10 | protein_coding | 2002 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36888444 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0005 | a0005c0018 | a0005c0018t0087 | a0005c0018t0087g0258 | 1 | 236 | 0.0042 | -27 | c.189 others(46): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HMBOX1_chr8_28885395_29058262 | 29052224 | GCTTATCA others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0053 | 1 | 342 | 0.0029 | -27 | c.*10 others(38): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 10/10 | 1070 | chr8 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186086791 | TAGATGAT others(20): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01891.hp1 others(11): Show |
a0001a0004a0005others(7): Show | a0001c0001a0004c0002a0005c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0004c0002t0001others(9): Show | a0001c0001t0001g0010 a0001c0001t0002g0089 a0004c0002t0001g0015 others(11): Show |
14 | 34 | 0.4118 | -27 | c.904 others(44): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130266161 | GCCGGGCG others(20): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 |
a0001a0002 | a0001c0221a0002c0217 | a0001c0221t0001a0002c0217t0001 | a0001c0221t0001g0257 a0002c0217t0001g0258 |
2 | 256 | 0.0078 | -27 | c.259 others(40): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGA2_chr12_65819483_65971291 | 65904175 | TCATAGAA others(20): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0224 | 1 | 234 | 0.0043 | -27 | c.250 others(46): Show |
HMGA2 | ENSG00000149948.14 | transcript | ENST00000403681.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55532803 | ACATAATA others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0182 | 1 | 112 | 0.0089 | -27 | c.297 others(44): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar |