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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(982): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 208 | 0.0048 | 989 | c.279 others(1004): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(982): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 326 | 0.0031 | 989 | c.162 others(1008): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(982): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 426 | 0.0024 | 989 | c.273 others(1004): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(982): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 308 | 0.0033 | 989 | c.371 others(1006): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(982): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 308 | 0.0033 | 989 | c.371 others(1006): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(982): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 295 | 0.0034 | 989 | c.126 others(1008): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492486 | C | CTTCCCGG others(982): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0045 | 1 | 295 | 0.0034 | 989 | c.126 others(1008): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(982): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 67 | 0.0149 | 989 | c.159 others(1006): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 304 | 0.0033 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 304 | 0.0033 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0106 | 3 | 304 | 0.0099 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 304 | 0.0033 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0124 | 1 | 304 | 0.0033 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(982): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 304 | 0.0033 | 989 | c.66+ others(1004): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(982): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0141 | 1 | 373 | 0.0027 | 989 | c.115 others(1006): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(982): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 373 | 0.0027 | 989 | c.115 others(1006): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414422 | G | GGGGAAGG others(982): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0018 | a0001c0018t0027 | a0001c0018t0027g0029 | 1 | 373 | 0.0027 | 989 | c.115 others(1006): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TM4SF19_chr3_196318547_196343388 | 196335076 | A | ACTGGGAG others(982): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 370 | 0.0027 | 989 | c.-2+ others(1004): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670452 | G | GTGCACCC others(982): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0201 | 1 | 394 | 0.0025 | 989 | c.129 others(1006): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917341 | C | CGGCTCGG others(982): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0088 | 1 | 344 | 0.0029 | 989 | c.218 others(1004): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(982): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01993.hp2 HG02074.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0003a0001c0002t0005a0001c0004t0003others(1): Show | a0001c0002t0003g0061a0001c0002t0005g0045a0001c0004t0003g0090others(1): Show | 4 | 202 | 0.0198 | 989 | c.*53 others(1000): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467389 | A | AATAGGTG others(982): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0000 | a0000c0083 | a0000c0083t0031 | a0000c0083t0031g0037 | 1 | 271 | 0.0037 | 989 | c.*10 others(1000): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 880 | chrX | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876161 | T | TCCTTCCC others(982): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 246 | 0.0041 | 989 | c.-10 others(1006): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0135 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0143 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0017 | a0003c0017t0009 | a0003c0017t0009g0012 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0019 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0133 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(983): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0292 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(983): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975324 | T | TATAAATA others(983): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(983): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0066 | a0001c0066t0004 | a0001c0066t0004g0279 | 1 | 306 | 0.0033 | 990 | c.130 others(1009): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104952301 | A | AGGCTGAA others(983): Show |
disruptive_inframe_insertion | MODERATE | HG01255.hp2 | a0085 | a0085c0172 | a0085c0172t0002 | a0085c0172t0002g0296 | 1 | 356 | 0.0028 | 990 | c.314 others(999): Show |
p.Pro others(1005): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3286/18335 | 3149/17388 | 1050/5795 | chr14 | TogoVar | ||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(983): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0330 | 1 | 380 | 0.0026 | 990 | c.313 others(1005): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(983): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 257 | 0.0039 | 990 | c.*40 others(1001): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1070458 | A | ACCACCCC others(983): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01168.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0124a0001c0001t0007g0126a0001c0001t0007g0127others(3): Show | 6 | 326 | 0.0184 | 990 | c.129 others(1009): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12775121 | T | TTGATCAG others(983): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0031 | 1 | 214 | 0.0047 | 990 | c.565 others(1007): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882544 | C | CGGGGAGA others(983): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 | 1 | 288 | 0.0035 | 990 | c.303 others(1009): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71689036 | G | GGATGGTG others(983): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0066 | a0066c0034 | a0066c0034t0001 | a0066c0034t0001g0158 | 1 | 196 | 0.0051 | 990 | c.205 others(1009): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(983): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 290 | 0.0035 | 990 | c.-95 others(1009): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(983): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0006 | a0006c0005 | a0006c0005t0023 | a0006c0005t0023g0043 | 1 | 320 | 0.0031 | 990 | c.380 others(1007): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240980134 | G | GCCCAGGC others(983): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0243 | 1 | 350 | 0.0029 | 990 | c.440 others(1009): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(983): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0313 | 1 | 358 | 0.0028 | 990 | c.236 others(1009): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(983): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0293 | 1 | 358 | 0.0028 | 990 | c.236 others(1009): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(983): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0319 | 1 | 358 | 0.0028 | 990 | c.236 others(1009): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(983): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0209 | 1 | 252 | 0.0040 | 990 | c.118 others(1009): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(983): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0127 | a0127c0035 | a0127c0035t0001 | a0127c0035t0001g0040 | 1 | 252 | 0.0040 | 990 | c.118 others(1009): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586244 | G | GAAAGGTA others(983): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0018 | 1 | 308 | 0.0033 | 990 | c.157 others(1005): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132242873 | C | CCACACCC others(983): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0090 | 3 | 183 | 0.0164 | 990 | c.107 others(1009): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(983): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 366 | 0.0027 | 990 | c.666 others(1007): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |