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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(916): Show |
intron_variant | MODIFIER | NA18965.hp2 NA19063.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0001 | a0001c0002t0004g0265a0002c0003t0001g0239 | 2 | 324 | 0.0062 | 923 | c.340 others(940): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(916): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 324 | 0.0031 | 923 | c.340 others(940): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(916): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18612.hp1 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0097a0001c0010t0007g0126 | 2 | 250 | 0.0080 | 923 | c.188 others(942): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGAAGA others(916): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0029 | 1 | 82 | 0.0122 | 923 | c.757 others(938): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053557 | A | ATGCCACA others(916): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0207a0002c0002t0015g0208 | 2 | 314 | 0.0064 | 923 | c.310 others(938): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(916): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 204 | 0.0049 | 923 | c.978 others(940): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(916): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0294 | 1 | 375 | 0.0027 | 923 | c.-19 others(934): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738753 | T | TCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0264a0002c0002t0001g0194 | 2 | 380 | 0.0053 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738753 | T | TCATCCAT others(916): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 380 | 0.0026 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 380 | 0.0026 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18999.hp2 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0242others(2): Show | 5 | 380 | 0.0132 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 380 | 0.0026 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp1 others(32): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0136a0001c0001t0001g0183a0001c0001t0001g0188others(32): Show | 35 | 380 | 0.0921 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739002 | C | CCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 380 | 0.0026 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739088 | C | CCTCATCC others(916): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0378 | 1 | 380 | 0.0026 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KRTAP4-5_chr17_41143924_41154825 | 41144155 | C | CTTTTTTC others(916): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 402 | 0.0025 | 923 | c.*50 others(934): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 4768 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(916): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG03486.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0057a0001c0001t0019g0178 | 3 | 424 | 0.0071 | 923 | c.-28 others(934): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(916): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02976.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0014 | a0002c0003t0008g0021a0002c0003t0008g0176a0002c0003t0014g0030others(1): Show | 9 | 424 | 0.0212 | 923 | c.-28 others(934): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
MGRN1_chr16_4619826_4695972 | 4648769 | C | CGGGGGCT others(916): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 334 | 0.0030 | 923 | c.89- others(938): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(916): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0018 | a0001c0018t0053 | a0001c0018t0053g0059 | 1 | 322 | 0.0031 | 923 | c.*46 others(934): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(916): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 1 | 68 | 0.0147 | 923 | c.62- others(942): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924018 | C | CGAGGAGA others(916): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 292 | 0.0034 | 923 | c.718 others(940): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(916): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0163 | 1 | 210 | 0.0048 | 923 | c.438 others(942): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(916): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 NA18612.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(3): Show | a0001c0001t0001g0175a0001c0001t0002g0012a0001c0002t0005g0141others(3): Show | 6 | 210 | 0.0286 | 923 | c.438 others(942): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGAGC others(916): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0267 | 1 | 295 | 0.0034 | 923 | c.126 others(942): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(916): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 304 | 0.0033 | 923 | c.347 others(938): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(916): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 160 | 0.0063 | 923 | c.389 others(944): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(916): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0068a0001c0002t0001g0008 | 2 | 160 | 0.0125 | 923 | c.389 others(944): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(916): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0010 | a0002c0010t0006 | a0002c0010t0006g0068 | 1 | 314 | 0.0032 | 923 | c.916 others(940): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083740 | C | CCTTTACT others(916): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 NA18522.hp2 |
a0004a0026 | a0004c0055a0004c0056a0026c0069 | a0004c0055t0055a0004c0056t0006a0026c0069t0069 | a0004c0055t0055g0021a0004c0056t0006g0098a0026c0069t0069g0064 | 3 | 116 | 0.0259 | 923 | c.332 others(942): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(916): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 422 | 0.0024 | 923 | c.*64 others(934): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(916): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 322 | 0.0031 | 923 | c.597 others(940): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(916): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 174 | 0.0058 | 923 | c.41- others(940): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0189 | 1 | 468 | 0.0021 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 468 | 0.0021 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0152 | 1 | 468 | 0.0021 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0102 | 1 | 468 | 0.0021 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(916): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0104a0001c0002t0003g0151 | 2 | 468 | 0.0043 | 923 | c.-6- others(938): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(917): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 306 | 0.0033 | 924 | c.130 others(943): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(917): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19084.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0117a0001c0005t0001g0118 | 2 | 306 | 0.0065 | 924 | c.130 others(943): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(917): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG02897.hp1 |
a0002a0007a0019 | a0002c0012a0007c0011a0019c0071 | a0002c0012t0001a0007c0011t0001a0019c0071t0001 | a0002c0012t0001g0084a0007c0011t0001g0078a0019c0071t0001g0358 | 3 | 360 | 0.0083 | 924 | c.170 others(945): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(917): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03453.hp2 others(1): Show |
a0002a0018a0019 | a0002c0012a0002c0035a0018c0037others(1): Show | a0002c0012t0001a0002c0035t0005a0018c0037t0001others(1): Show | a0002c0012t0001g0090a0002c0035t0005g0091a0018c0037t0001g0074others(1): Show | 4 | 360 | 0.0111 | 924 | c.170 others(945): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111555 | G | GGGCACCT others(917): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0021 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111597 | G | GGGCACCT others(917): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0333 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111709 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0059 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111828 | A | ACCAGACC others(917): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0348 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111886 | A | ACCACGGG others(917): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0339 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111961 | C | CACCTGCC others(917): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0129 | 1 | 368 | 0.0027 | 924 | c.401 others(941): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(917): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 924 | c.*10 others(937): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar |