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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1466268 | T | TACACACA others(29): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 146 | 0.0068 | 36 | c.*55 others(47): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3580 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 12 | 0.0833 | 36 | c.235 others(53): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01934.hp1 HG01943.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0228 a0001c0001t0002g0122 a0001c0001t0004g0091 others(8): Show |
11 | 13 | 0.8462 | 36 | c.283 others(53): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0256a0001c0001t0266 | a0001c0001t0256g0044 a0001c0001t0266g0074 |
2 | 279 | 0.0072 | 36 | c.-23 others(47): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605636 | C | CATATATG others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006a0004c0022 | a0001c0001t0002a0004c0006t0002a0004c0022t0002 | a0001c0001t0002g0132 a0004c0006t0002g0034 a0004c0006t0002g0036 others(2): Show |
5 | 146 | 0.0342 | 36 | c.225 others(55): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605636 | C | CATATATG others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 142 | 0.0070 | 36 | c.225 others(55): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605670 | T | TAAATATA others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00735.hp2 others(25): Show |
a0001a0008a0014others(3): Show | a0001c0001a0008c0014a0014c0030others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0103 others(25): Show |
28 | 143 | 0.1958 | 36 | c.225 others(55): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605672 | C | CATATATG others(29): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0130 a0001c0001t0011g0097 |
2 | 34 | 0.0588 | 36 | c.225 others(55): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605691 | A | ATATATAA others(29): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 |
a0003 | a0003c0003a0003c0023 | a0003c0003t0016a0003c0023t0016 | a0003c0003t0016g0159 a0003c0023t0016g0156 |
2 | 184 | 0.0109 | 36 | c.225 others(55): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 261 | 0.0077 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02071.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
5 | 264 | 0.0189 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0002 a0001c0001t0014g0025 |
2 | 261 | 0.0077 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 260 | 0.0038 | 36 | c.-49 others(47): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91991265 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02148.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 a0001c0001t0002g0247 a0001c0001t0002g0254 others(3): Show |
6 | 198 | 0.0303 | 36 | c.285 others(53): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91991279 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 253 | 0.0040 | 36 | c.285 others(53): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTBD17_chr17_74351416_74366868 | 74365044 | C | CATATATA others(29): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 88 | 0.0114 | 36 | c.-32 others(47): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 3177 | chr17 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44814228 | T | TTCTTTCT others(29): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0006 a0001c0001t0051g0082 |
2 | 289 | 0.0069 | 36 | c.*45 others(45): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 8/8 | 459 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BTBD1_chr15_83011423_83072252 | 83042348 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 150 | 0.0067 | 36 | c.665 others(51): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 3/7 | chr15 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38438254 | G | GGAAGGAA others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01361.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0069others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(6): Show |
9 | 69 | 0.1304 | 36 | c.115 others(57): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74798909 | T | TGTTGTTT others(29): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(73): Show |
91 | 354 | 0.2571 | 36 | c.-45 others(47): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4387 | chr4 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101366930 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 255 | 0.0039 | 36 | c.48+ others(53): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16656150 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 351 | 0.0028 | 36 | c.-7- others(51): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16710680 | A | AGGAGGGA others(29): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0400 a0001c0001t0003g0272 a0001c0003t0002g0295 |
3 | 414 | 0.0072 | 36 | c.*45 others(47): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4164 | chr7 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126442478 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0053 a0001c0001t0011g0207 |
2 | 33 | 0.0606 | 36 | c.218 others(57): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126445805 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02132.hp1 NA18964.hp2 others(1): Show |
a0002a0004a0005 | a0002c0003a0002c0004a0004c0005others(1): Show | a0002c0003t0001a0002c0004t0004a0004c0005t0001others(1): Show | a0002c0003t0001g0047 a0002c0004t0004g0127 a0004c0005t0001g0045 others(1): Show |
4 | 140 | 0.0286 | 36 | c.218 others(57): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
C11orf54_chr11_93736672_93769749 | 93767718 | T | TGGGGCGA others(29): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 362 | 0.0028 | 36 | c.*60 others(47): Show |
C11orf54 | ENSG00000182919.15 | transcript | ENST00000354421.8 | protein_coding | 2970 | chr11 | TogoVar | |||||||
C11orf87_chr11_109417190_109434167 | 109431645 | C | CCCCCCAC others(29): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0001 | 1 | 388 | 0.0026 | 36 | c.*74 others(47): Show |
C11orf87 | ENSG00000185742.7 | transcript | ENST00000327419.7 | protein_coding | 2479 | chr11 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39713929 | T | TTATGTGC others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18981.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0217 |
3 | 358 | 0.0084 | 36 | c.141 others(55): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf50_chr12_87975035_88034401 | 88010370 | T | TAGATTAT others(29): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04228.hp1 NA18961.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0050 others(3): Show |
9 | 190 | 0.0474 | 36 | c.134 others(55): Show |
C12orf50 | ENSG00000165805.10 | transcript | ENST00000298699.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
C12orf50_chr12_87975035_88034401 | 88010428 | T | TATAATCT others(29): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 270 | 0.0037 | 36 | c.134 others(55): Show |
C12orf50 | ENSG00000165805.10 | transcript | ENST00000298699.7 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19060.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0266 a0003c0004t0001g0272 |
2 | 70 | 0.0286 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01123.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0029 a0002c0002t0001g0161 a0002c0002t0001g0165 others(1): Show |
4 | 72 | 0.0556 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0258 | 1 | 69 | 0.0145 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0107 | 1 | 69 | 0.0145 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18999.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0005 | a0001c0003t0001g0222 a0002c0005t0005g0264 |
2 | 70 | 0.0286 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0220 | 1 | 69 | 0.0145 | 36 | c.968 others(53): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113964804 | A | AGGGGGGA others(29): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0129 | 1 | 410 | 0.0024 | 36 | c.572 others(50): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 6/6 | chr13 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113973867 | C | CCCAGACT others(29): Show |
conservative_inframe_insertion | MODERATE | NA19006.hp2 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0068 | 1 | 412 | 0.0024 | 36 | c.130 others(43): Show |
p.Leu others(47): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 1/7 | 209/3786 | 130/639 | 44/212 | chr13 | TogoVar | |||
C14orf132_chr14_96034362_96098971 | 96069181 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0090 | 1 | 370 | 0.0027 | 36 | c.28- others(53): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96069183 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 196 | 0.0051 | 36 | c.28- others(53): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96069183 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 196 | 0.0051 | 36 | c.28- others(53): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
C16orf95_chr16_87297814_87322392 | 87304800 | A | AGACCGGG others(29): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0116 | 1 | 456 | 0.0022 | 36 | c.701 others(51): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390308 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 438 | 0.0023 | 36 | c.750 others(51): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390312 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 440 | 0.0023 | 36 | c.750 others(51): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390330 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03239.hp2 NA18975.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0107 a0002c0002t0001g0220 others(1): Show |
8 | 90 | 0.0889 | 36 | c.750 others(51): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390330 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 83 | 0.0120 | 36 | c.750 others(51): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(29): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 266 | 0.0038 | 36 | c.-14 others(47): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 1434 | chr17 | TogoVar | |||||||
C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 NA18966.hp2 NA19005.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0004t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0089 others(2): Show |
5 | 270 | 0.0185 | 36 | c.-14 others(47): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 1434 | chr17 | TogoVar |