| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0242 | 2 | 396 | 0.0051 | 15 | c.-37 others(32): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48080951 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0329 | 1 | 396 | 0.0025 | 15 | c.-37 others(32): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48100137 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0377a0001c0001t0001g0378a0001c0001t0001g0379others(2): Show | 5 | 396 | 0.0126 | 15 | c.-38 others(32): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48101948 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0153a0001c0001t0001g0378a0001c0001t0004g0327others(9): Show | 12 | 396 | 0.0303 | 15 | c.-71 others(24): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 471 | chr17 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48105324 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 396 | 0.0025 | 15 | c.-41 others(26): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | ||||||
| CBY1_chr22_38651638_38678850 | 38674839 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0156 | 2 | 384 | 0.0052 | 15 | c.*16 others(26): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 990 | chr22 | TogoVar | ||||||
| CBY2_chr13_45697320_45719559 | 45702901 | A | ATAACCCC others(8): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 440 | 0.0023 | 15 | c.156 others(28): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CC2D2B_chr10_95902975_96038745 | 95947082 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0011 | a0011c0024 | a0011c0024t0001 | a0011c0024t0001g0133 | 1 | 312 | 0.0032 | 15 | c.802 others(32): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CC2D2B_chr10_95902975_96038745 | 95947114 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0127 | 1 | 312 | 0.0032 | 15 | c.802 others(32): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | chr10 | TogoVar | ||||||
| CC2D2B_chr10_95902975_96038745 | 96025166 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0255 | 1 | 312 | 0.0032 | 15 | c.394 others(32): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CC2D2B_chr10_95902975_96038745 | 96025172 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18980.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0273a0004c0004t0001g0160 | 2 | 312 | 0.0064 | 15 | c.394 others(32): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CC2D2B_chr10_95902975_96038745 | 96025185 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0093 | 1 | 312 | 0.0032 | 15 | c.394 others(32): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | chr10 | TogoVar | ||||||
| CCAR2_chr8_22599757_22625471 | 22611405 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0089 | 1 | 376 | 0.0027 | 15 | c.585 others(32): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 7/20 | chr8 | TogoVar | ||||||
| CCAR2_chr8_22599757_22625471 | 22624974 | T | TGCCCCAG others(8): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0096 | 1 | 376 | 0.0027 | 15 | c.*52 others(26): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 4504 | chr8 | TogoVar | ||||||
| CCBE1_chr18_59425939_59702423 | 59543834 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0182 | 1 | 242 | 0.0041 | 15 | c.213 others(34): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
| CCBE1_chr18_59425939_59702423 | 59658354 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 242 | 0.0041 | 15 | c.212 others(34): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
| CCBE1_chr18_59425939_59702423 | 59668418 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023a0001c0001t0035others(1): Show | a0001c0001t0004g0175a0001c0001t0023g0192a0001c0001t0023g0193others(2): Show | 5 | 242 | 0.0207 | 15 | c.212 others(34): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
| CCBE1_chr18_59425939_59702423 | 59698646 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01934.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0109a0001c0001t0002g0030a0001c0001t0002g0161others(9): Show | 12 | 242 | 0.0496 | 15 | c.-13 others(26): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 1224 | chr18 | TogoVar | ||||||
| CCDC102A_chr16_57507181_57541571 | 57520536 | A | AATAACAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp1 others(60): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0097a0001c0001t0001g0144a0001c0001t0001g0213others(46): Show | 63 | 416 | 0.1514 | 15 | c.921 others(30): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 4/8 | chr16 | TogoVar | ||||||
| CCDC102A_chr16_57507181_57541571 | 57536464 | T | TGGCCTGC others(8): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 2 | 416 | 0.0048 | 15 | c.-14 others(30): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
| CCDC102B_chr18_68793080_69060189 | 68853672 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02965.hp2 HG03471.hp2 others(2): Show |
a0001a0003a0013others(1): Show | a0001c0001a0003c0004a0013c0018others(1): Show | a0001c0001t0001a0003c0004t0001a0013c0018t0001others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0062a0003c0004t0001g0186others(2): Show | 5 | 216 | 0.0232 | 15 | c.936 others(32): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CCDC102B_chr18_68793080_69060189 | 68911751 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01081.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0091a0001c0001t0001g0183a0001c0003t0001g0106others(5): Show | 8 | 216 | 0.0370 | 15 | c.126 others(36): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 NA19083.hp1 |
a0001a0007 | a0001c0030a0007c0012 | a0001c0030t0001a0007c0012t0001 | a0001c0030t0001g0024a0007c0012t0001g0210 | 2 | 216 | 0.0093 | 15 | c.126 others(32): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CCDC105_chr19_15005726_15028276 | 15010225 | G | GAGAAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp1 NA18522.hp2 |
a0004a0018 | a0004c0006a0018c0031 | a0004c0006t0001a0018c0031t0001 | a0004c0006t0001g0117a0004c0006t0001g0124a0018c0031t0001g0068 | 3 | 440 | 0.0068 | 15 | c.-60 others(24): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 500 | chr19 | TogoVar | ||||||
| CCDC105_chr19_15005726_15028276 | 15014738 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0067 | 2 | 440 | 0.0046 | 15 | c.675 others(30): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CCDC105_chr19_15005726_15028276 | 15028121 | T | TGTAGTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 440 | 0.0023 | 15 | c.*50 others(26): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 4846 | chr19 | TogoVar | ||||||
| CCDC106_chr19_55643212_55658161 | 55646178 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02135.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0002g0001a0001c0002t0001g0003others(1): Show | 8 | 412 | 0.0194 | 15 | c.-28 others(26): Show |
CCDC106 | ENSG00000173581.8 | transcript | ENST00000586790.6 | protein_coding | 2033 | chr19 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 428 | 0.0023 | 15 | c.*21 others(26): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01361.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040a0002c0002t0001g0051 | 2 | 428 | 0.0047 | 15 | c.*21 others(26): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0316 | 2 | 428 | 0.0047 | 15 | c.*21 others(26): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185443342 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 428 | 0.0023 | 15 | c.*21 others(26): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1839 | chr4 | TogoVar | ||||||
| CCDC112_chr5_115262190_115301654 | 115298457 | C | CAGGAGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00741.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 388 | 0.0129 | 15 | c.-19 others(26): Show |
CCDC112 | ENSG00000164221.13 | transcript | ENST00000379611.10 | protein_coding | 1804 | chr5 | TogoVar | ||||||
| CCDC113_chr16_58244936_58288836 | 58266405 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0025 | 1 | 378 | 0.0027 | 15 | c.784 others(32): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCDC113_chr16_58244936_58288836 | 58266405 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0270 | 1 | 378 | 0.0027 | 15 | c.784 others(32): Show |
CCDC113 | ENSG00000103021.10 | transcript | ENST00000219299.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCDC117_chr22_28767695_28794295 | 28782250 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0093 | 1 | 418 | 0.0024 | 15 | c.464 others(32): Show |
CCDC117 | ENSG00000159873.10 | transcript | ENST00000249064.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CCDC117_chr22_28767695_28794295 | 28785177 | C | CTTGTTTT others(8): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0036 | 2 | 418 | 0.0048 | 15 | c.603 others(30): Show |
CCDC117 | ENSG00000159873.10 | transcript | ENST00000249064.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CCDC120_chrX_49053999_49074854 | 49060427 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18955.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0046 | 3 | 287 | 0.0105 | 15 | c.-84 others(32): Show |
CCDC120 | ENSG00000147144.13 | transcript | ENST00000603986.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 354 | 0.0028 | 15 | c.97- others(32): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01993.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0059a0001c0001t0001g0074others(3): Show | 7 | 354 | 0.0198 | 15 | c.97- others(32): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01993.hp1 HG03654.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0090a0001c0001t0001g0171others(2): Show | 5 | 354 | 0.0141 | 15 | c.97- others(32): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| CCDC134_chr22_41795679_41837164 | 41829439 | A | ACTACCTG others(8): Show |
3_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0003 | 1 | 380 | 0.0026 | 15 | c.*36 others(26): Show |
CCDC134 | ENSG00000100147.14 | transcript | ENST00000255784.6 | protein_coding | 7/7 | 3633 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| CCDC136_chr7_128786968_128827130 | 128796739 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160a0001c0001t0002g0161a0001c0001t0002g0162 | 3 | 380 | 0.0079 | 15 | c.346 others(32): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CCDC138_chr2_108781771_108881578 | 108786693 | C | CGCCCCGC others(8): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0198 | 1 | 220 | 0.0046 | 15 | c.-13 others(24): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 77 | chr2 | TogoVar | ||||||
| CCDC141_chr2_178824757_179055137 | 179015065 | G | GATATATA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19043.hp1 |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0012a0010c0019t0009 | a0001c0001t0012g0074a0010c0019t0009g0072 | 2 | 274 | 0.0073 | 15 | c.225 others(34): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
| CCDC141_chr2_178824757_179055137 | 179027646 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02486.hp2 HG03942.hp1 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0057a0001c0002t0058a0003c0004t0050others(2): Show | a0001c0001t0057g0209a0001c0002t0058g0102a0003c0004t0050g0061others(2): Show | 5 | 274 | 0.0183 | 15 | c.225 others(34): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
| CCDC144A_chr17_16685241_16782881 | 16711136 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02735.hp2 NA18522.hp1 others(2): Show |
a0001a0012 | a0001c0001a0001c0012a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0012t0028others(2): Show | a0001c0001t0001g0154a0001c0001t0009g0010a0001c0012t0028g0294others(2): Show | 5 | 318 | 0.0157 | 15 | c.157 others(32): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CCDC144A_chr17_16685241_16782881 | 16718832 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02602.hp1 HG02897.hp1 others(2): Show |
a0001a0002a0011 | a0001c0024a0002c0002a0011c0013 | a0001c0024t0001a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0024t0001g0121a0002c0002t0003g0272a0002c0002t0004g0303others(2): Show | 5 | 318 | 0.0157 | 15 | c.171 others(34): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CCDC144A_chr17_16685241_16782881 | 16753432 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(44): Show |
a0002a0006a0013others(1): Show | a0002c0002a0002c0019a0006c0023others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0018others(5): Show | a0002c0002t0002g0001a0002c0002t0002g0182a0002c0002t0002g0184others(43): Show | 47 | 318 | 0.1478 | 15 | c.337 others(34): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CCDC148_chr2_158166073_158461753 | 158276554 | T | TCAAAACA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0063a0002c0002t0002g0074 | 2 | 264 | 0.0076 | 15 | c.111 others(36): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 9/13 | chr2 | TogoVar | ||||||
| CCDC148_chr2_158166073_158461753 | 158433085 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 264 | 0.0038 | 15 | c.25+ others(32): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar |