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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(936): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0075 | 1 | 30 | 0.0333 | 943 | c.433 others(960): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(936): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 192 | 0.0052 | 943 | c.215 others(960): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(936): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0183 | 1 | 13 | 0.0769 | 943 | c.215 others(960): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(936): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03195.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0092 a0002c0002t0001g0137 a0002c0002t0001g0187 |
3 | 15 | 0.2000 | 943 | c.215 others(960): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(936): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0249 | 1 | 24 | 0.0417 | 943 | c.371 others(960): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(936): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0297 | 1 | 24 | 0.0417 | 943 | c.371 others(960): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(936): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 24 | 0.0417 | 943 | c.371 others(960): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(936): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0100 | 1 | 24 | 0.0417 | 943 | c.371 others(960): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402342 | C | CGGCCCCG others(936): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 180 | 0.0056 | 943 | c.173 others(960): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167975 | C | CTTCTCTC others(936): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 310 | 0.0032 | 943 | c.306 others(962): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494762 | T | TGAGGTGG others(936): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0180 a0001c0001t0004g0208 |
2 | 251 | 0.0080 | 943 | c.126 others(962): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(936): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0353 | 1 | 2 | 0.5000 | 943 | c.438 others(960): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(936): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 | 1 | 136 | 0.0074 | 943 | c.389 others(964): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(936): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0002 | a0001c0001t0006g0015 a0002c0003t0002g0108 |
2 | 137 | 0.0146 | 943 | c.389 others(964): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668334 | T | TCCCTCAT others(936): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 259 | 0.0039 | 943 | c.249 others(962): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(936): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18966.hp1 |
a0003 | a0003c0001a0003c0007 | a0003c0001t0001a0003c0007t0002 | a0003c0001t0001g0081 a0003c0007t0002g0082 |
2 | 123 | 0.0163 | 943 | c.89- others(956): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(936): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 303 | 0.0033 | 943 | c.115 others(960): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(936): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 230 | 0.0043 | 943 | c.115 others(960): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 285 | 0.0035 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 285 | 0.0035 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 285 | 0.0035 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0143 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0036 a0001c0001t0003g0036 |
2 | 207 | 0.0097 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0027 a0001c0001t0005g0027 |
2 | 207 | 0.0097 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 206 | 0.0049 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328682 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 428 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328682 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 428 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328684 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 430 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328762 | T | TTGTGTGT others(936): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 425 | 0.0024 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG01358.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 2 | 263 | 0.0076 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 262 | 0.0038 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 a0001c0001t0002g0251 |
3 | 264 | 0.0114 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(936): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0030 | a0002c0001t0030g0093 | 1 | 58 | 0.0172 | 943 | c.143 others(964): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(936): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0009 | a0001c0001t0001g0009 a0002c0003t0009g0018 |
2 | 68 | 0.0294 | 943 | c.79+ others(960): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(936): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 2 | 0.5000 | 943 | c.*53 others(954): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(936): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0032 | 1 | 2 | 0.5000 | 943 | c.*53 others(954): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6533242 | A | ACACCTCC others(936): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0024 | a0024c0026 | a0024c0026t0001 | a0024c0026t0001g0019 | 1 | 47 | 0.0213 | 943 | c.*50 others(952): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 375 | chrX | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0109 | 1 | 201 | 0.0050 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 201 | 0.0050 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 201 | 0.0050 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(937): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0007 | a0007c0069 | a0007c0069t0009 | a0007c0069t0009g0043 | 1 | 12 | 0.0833 | 944 | c.387 others(963): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(937): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0164 | 1 | 12 | 0.0833 | 944 | c.387 others(963): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(937): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0022 | 1 | 40 | 0.0250 | 944 | c.118 others(963): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406423 | T | TTGTCACT others(937): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 202 | 0.0050 | 944 | c.*30 others(955): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 746 | chr2 | TogoVar |