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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMPR1A_chr10_86751619_86932969 | 86791687 | T | TCCTCCCT others(45): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0001 | a0002c0001t0067 | a0002c0001t0067g0165 | 1 | 278 | 0.0036 | 52 | c.-26 others(73): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86791707 | C | CCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0252 | 1 | 278 | 0.0036 | 52 | c.-26 others(73): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0170 | 1 | 278 | 0.0036 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 NA18969.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0033 | a0001c0002t0007g0031 a0001c0002t0033g0270 |
2 | 278 | 0.0072 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0135 | 1 | 278 | 0.0036 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 NA18949.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0046a0002c0001t0005 | a0001c0002t0046g0062 a0002c0001t0005g0205 |
2 | 278 | 0.0072 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 NA18966.hp1 NA18972.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0025a0002c0001t0005 | a0001c0002t0003g0075 a0001c0002t0025g0029 a0002c0001t0005g0207 |
3 | 278 | 0.0108 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86931298 | C | CACACACA others(45): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 278 | 0.0036 | 52 | c.*75 others(63): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3330 | chr10 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113236284 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0178 a0001c0006t0001g0201 |
2 | 386 | 0.0052 | 52 | c.-81 others(71): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236290 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0282 | 1 | 386 | 0.0026 | 52 | c.-81 others(71): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33295645 | G | GAAGAAAG others(45): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03041.hp2 NA18906.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0128 a0005c0005t0001g0129 a0005c0005t0001g0130 |
3 | 388 | 0.0077 | 52 | c.598 others(69): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BRAP_chr12_111637146_111690956 | 111667698 | C | CAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 364 | 0.0028 | 52 | c.748 others(69): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(45): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0181 | 1 | 265 | 0.0038 | 52 | c.283 others(69): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BSG_chr19_567596_588493 | 570681 | G | GGGAGGGG others(45): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 306 | 0.0033 | 52 | c.-19 others(63): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1914 | chr19 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91991265 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 330 | 0.0030 | 52 | c.285 others(69): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816569 | T | TATATACA others(45): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 NA19085.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0056a0007c0009t0058 | a0001c0001t0056g0001 a0007c0009t0058g0070 |
2 | 436 | 0.0046 | 52 | c.*27 others(63): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 985 | chr1 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816569 | T | TATATACA others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0020 others(27): Show |
57 | 436 | 0.1307 | 52 | c.*27 others(63): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 985 | chr1 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816569 | T | TTATATAT others(45): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0010 a0001c0001t0004g0010 |
2 | 436 | 0.0046 | 52 | c.*27 others(63): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 985 | chr1 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374303 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0071 | a0001c0001t0016g0069 a0001c0001t0071g0165 |
2 | 224 | 0.0089 | 52 | c.115 others(73): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0163 | 1 | 224 | 0.0045 | 52 | c.115 others(73): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCATCCAC others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(224): Show |
a0002a0003a0004others(2): Show | a0002c0001a0003c0003a0003c0004others(3): Show | a0002c0001t0001a0002c0001t0008a0003c0003t0001others(6): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0010 others(67): Show |
227 | 400 | 0.5675 | 52 | c.-99 others(67): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCATCCAC others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0005a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(10): Show | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 others(49): Show |
167 | 400 | 0.4175 | 52 | c.-99 others(67): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39653585 | C | CTTCTTCT others(45): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 360 | 0.0028 | 52 | c.686 others(69): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39712029 | C | CATGTATA others(45): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(3): Show |
6 | 360 | 0.0167 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39713227 | T | TATACGTG others(45): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00733.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0244 a0001c0001t0001g0251 others(8): Show |
11 | 360 | 0.0306 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39713305 | C | CATACGTG others(45): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03831.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(1): Show |
4 | 360 | 0.0111 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39713305 | C | CATACGTG others(45): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 360 | 0.0028 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714270 | T | TATATATG others(45): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 360 | 0.0028 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39714270 | T | TTTATATG others(45): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0069 a0001c0001t0004g0055 a0001c0001t0004g0059 others(1): Show |
4 | 360 | 0.0111 | 52 | c.141 others(71): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64367180 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG03017.hp2 HG06807.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0003 | a0002c0002t0001g0221 a0003c0004t0003g0245 |
2 | 312 | 0.0064 | 52 | c.253 others(71): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64367180 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0229 | 1 | 312 | 0.0032 | 52 | c.253 others(71): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C16orf89_chr16_5039122_5070956 | 5057267 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0314 a0001c0002t0006g0315 |
2 | 432 | 0.0046 | 52 | c.628 others(69): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 4/7 | chr16 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74361907 | T | TATATACG others(45): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02055.hp1 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0009a0004c0004t0021 | a0004c0004t0003g0006 a0004c0004t0003g0036 a0004c0004t0003g0101 others(3): Show |
10 | 372 | 0.0269 | 52 | c.*54 others(63): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2719 | chr18 | TogoVar | |||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATATAT others(45): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 466 | 0.0022 | 52 | c.-35 others(61): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184386789 | C | CCACACAC others(45): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0164 | 1 | 232 | 0.0043 | 52 | c.-70 others(61): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 239 | chr1 | TogoVar | |||||||
C1orf87_chr1_59985394_60078770 | 60064774 | A | AATATATA others(45): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 HG02559.hp2 |
a0009a0010 | a0009c0015a0009c0017a0010c0019 | a0009c0015t0001a0009c0017t0001a0010c0019t0002 | a0009c0015t0001g0359 a0009c0017t0001g0358 a0010c0019t0002g0357 |
3 | 382 | 0.0079 | 52 | c.107 others(69): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(45): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0053 | 1 | 398 | 0.0025 | 52 | c.*16 others(63): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(45): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0327 | 1 | 396 | 0.0025 | 52 | c.280 others(69): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74066267 | A | AGGGGGAA others(45): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 318 | 0.0031 | 52 | c.495 others(71): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 24/32 | chr11 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201534535 | C | CCAAAACA others(45): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02896.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 others(2): Show |
5 | 270 | 0.0185 | 52 | c.150 others(71): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563469 | A | ACCCCCCC others(45): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 270 | 0.0037 | 52 | c.977 others(69): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563470 | C | CCCCCCCC others(45): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0021 | a0021c0037 | a0021c0037t0001 | a0021c0037t0001g0265 | 1 | 270 | 0.0037 | 52 | c.977 others(69): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6689300 | T | TCTCCCTC others(45): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 |
a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0345 a0001c0024t0001g0346 |
2 | 370 | 0.0054 | 52 | c.348 others(71): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40980391 | G | GAGTTTAG others(45): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0302 | 1 | 380 | 0.0026 | 52 | c.235 others(69): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1136565 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02630.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0318 a0001c0001t0005g0308 a0001c0001t0005g0314 others(13): Show |
16 | 326 | 0.0491 | 52 | c.-2+ others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68794505 | A | ATATATAA others(45): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 128 | 0.0078 | 52 | c.154 others(71): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794505 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0091 | 1 | 128 | 0.0078 | 52 | c.154 others(71): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531183 | C | CAGGGCAG others(45): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 HG02922.hp1 HG03139.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0010 | 5 | 398 | 0.0126 | 52 | c.-22 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2073 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(45): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0055 | 1 | 398 | 0.0025 | 52 | c.-22 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(45): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 HG03491.hp2 HG03688.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0003 a0001c0002t0002g0001 a0001c0002t0002g0040 |
6 | 398 | 0.0151 | 52 | c.-22 others(63): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar |