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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0343 | 1 | 371 | 0.0027 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0337 | 1 | 371 | 0.0027 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0034others(37): Show | 42 | 371 | 0.1132 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469431 | A | AAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 371 | 0.0027 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2620 | chr16 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478076 | G | GGGGAAGG others(2294): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 88 | 0.0114 | 2301 | c.158 others(2318): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2294): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0146 | 1 | 186 | 0.0054 | 2301 | c.723 others(2318): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2294): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0092 | a0092c0023 | a0092c0023t0001 | a0092c0023t0001g0009 | 1 | 186 | 0.0054 | 2301 | c.723 others(2318): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(2294): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0201 | 1 | 332 | 0.0030 | 2301 | c.112 others(2318): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2294): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0095 | a0002c0095t0001 | a0002c0095t0001g0178 | 1 | 216 | 0.0046 | 2301 | c.801 others(2318): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(2294): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 295 | 0.0034 | 2301 | c.715 others(2318): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2294): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 295 | 0.0034 | 2301 | c.715 others(2318): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 276 | 0.0036 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0162 | 1 | 276 | 0.0036 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0142 | 1 | 276 | 0.0036 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0179a0001c0001t0004g0054a0001c0001t0004g0224others(29): Show | 32 | 276 | 0.1159 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG03139.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0129a0001c0001t0001g0246a0001c0001t0002g0230others(6): Show | 9 | 276 | 0.0326 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 276 | 0.0036 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 276 | 0.0036 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 361 | 0.0028 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 361 | 0.0028 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01070.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(21): Show | 33 | 361 | 0.0914 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 361 | 0.0028 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469431 | A | AAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 361 | 0.0028 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4743 | chr16 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67078263 | T | TTTTTTGT others(2294): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01943.hp2 HG02004.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0302a0002c0004t0002g0308a0002c0004t0002g0309 | 3 | 364 | 0.0082 | 2301 | c.127 others(2320): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2295): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0016 | a0003c0016t0007 | a0003c0016t0007g0294 | 1 | 334 | 0.0030 | 2302 | c.147 others(2319): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2295): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 298 | 0.0034 | 2302 | c.955 others(2319): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2295): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 427 | 0.0047 | 2302 | c.*40 others(2313): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2295): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0036 | a0036c0056 | a0036c0056t0001 | a0036c0056t0001g0092 | 1 | 104 | 0.0096 | 2302 | c.354 others(2321): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2295): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0022 | 1 | 104 | 0.0096 | 2302 | c.354 others(2321): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2295): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA18950.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0021others(1): Show | a0001c0001t0001g0087a0001c0001t0012g0268a0001c0001t0021g0116others(1): Show | 4 | 371 | 0.0108 | 2302 | c.*92 others(2313): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2295): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0016a0001c0001t0036g0006 | 2 | 371 | 0.0054 | 2302 | c.*92 others(2313): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2295): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0142 | 1 | 371 | 0.0027 | 2302 | c.*92 others(2313): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2295): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01261.hp1 HG01928.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0086others(25): Show | 29 | 371 | 0.0782 | 2302 | c.*92 others(2313): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2295): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 371 | 0.0027 | 2302 | c.*92 others(2313): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2295): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0021 | a0002c0021t0018 | a0002c0021t0018g0012 | 1 | 212 | 0.0047 | 2302 | c.131 others(2321): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2295): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0140a0001c0001t0004g0144 | 2 | 301 | 0.0066 | 2302 | c.-11 others(2313): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2295): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 301 | 0.0033 | 2302 | c.-11 others(2313): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2295): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 301 | 0.0033 | 2302 | c.-11 others(2313): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2295): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 301 | 0.0033 | 2302 | c.-11 others(2313): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(2295): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03486.hp2 |
a0001 | a0001c0004a0001c0023 | a0001c0004t0037a0001c0004t0047a0001c0023t0035 | a0001c0004t0037g0025a0001c0004t0047g0252a0001c0023t0035g0024 | 3 | 296 | 0.0101 | 2302 | c.368 others(2319): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2295): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0084 | 1 | 282 | 0.0036 | 2302 | c.299 others(2317): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2295): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03225.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0027 | 2 | 385 | 0.0052 | 2302 | c.-15 others(2313): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2295): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0094 | 1 | 276 | 0.0036 | 2302 | c.58- others(2319): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2295): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 NA18950.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0051a0001c0001t0006g0006 | 3 | 361 | 0.0083 | 2302 | c.-48 others(2313): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2295): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | 2302 | c.-48 others(2313): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2295): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01928.hp1 HG01978.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(13): Show | 24 | 361 | 0.0665 | 2302 | c.-48 others(2313): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2296): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0194 | 1 | 298 | 0.0034 | 2303 | c.955 others(2320): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2296): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 288 | 0.0035 | 2303 | c.303 others(2322): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2296): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0049 | a0049c0062 | a0049c0062t0013 | a0049c0062t0013g0100 | 1 | 104 | 0.0096 | 2303 | c.354 others(2322): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0195 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar |