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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1806): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0195 | 1 | 251 | 0.0040 | 1813 | c.635 others(1832): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(1806): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0037 a0001c0001t0003g0081 |
6 | 258 | 0.0233 | 1813 | c.*51 others(1824): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | AGTATGTA others(1806): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0005 | a0005c0020 | a0005c0020t0001 | a0005c0020t0001g0261 | 1 | 210 | 0.0048 | 1813 | c.292 others(1832): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(1806): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 109 | 0.0092 | 1813 | c.255 others(1832): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044179 | C | CCCCGCCC others(1806): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0053 | 1 | 26 | 0.0385 | 1813 | c.278 others(1830): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1806): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0257 | 1 | 126 | 0.0079 | 1813 | c.45- others(1828): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1807): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0262 | 1 | 69 | 0.0145 | 1814 | c.*52 others(1825): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1807): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 47 | 0.0213 | 1814 | c.338 others(1833): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NINL_chr20_25447697_25590531 | 25543911 | C | CTCAGCCC others(1807): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0179 | 1 | 262 | 0.0038 | 1814 | c.-11 others(1833): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543911 | C | CTCAGCCC others(1807): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01255.hp2 others(36): Show |
a0002a0003a0008others(1): Show | a0002c0002a0002c0011a0003c0003others(3): Show | a0002c0002t0004a0002c0011t0002a0003c0003t0004others(3): Show | a0002c0002t0004g0174 a0002c0002t0004g0191 a0002c0011t0002g0235 others(36): Show |
39 | 300 | 0.1300 | 1814 | c.-11 others(1833): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543911 | C | CTCAGCCC others(1807): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 |
a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0195 a0002c0008t0002g0198 |
2 | 263 | 0.0076 | 1814 | c.-11 others(1833): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
NINL_chr20_25447697_25590531 | 25543911 | C | CTCAGCCC others(1807): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02976.hp1 HG03130.hp1 others(2): Show |
a0002 | a0002c0008a0002c0022 | a0002c0008t0002a0002c0022t0002 | a0002c0008t0002g0194 a0002c0008t0002g0196 a0002c0008t0002g0197 others(2): Show |
5 | 266 | 0.0188 | 1814 | c.-11 others(1833): Show |
NINL | ENSG00000101004.16 | transcript | ENST00000278886.11 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1807): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1814 | c.-20 others(1825): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(1807): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 112 | 0.0089 | 1814 | c.719 others(1833): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(1807): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0002t0001g0025 others(1): Show |
4 | 115 | 0.0348 | 1814 | c.719 others(1833): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(1807): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 112 | 0.0089 | 1814 | c.719 others(1833): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1808): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 50 | 0.0200 | 1815 | c.147 others(1832): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1808): Show |
intron_variant | MODIFIER | HG01069.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0042 | a0001c0001t0010g0120 a0001c0001t0042g0140 |
2 | 153 | 0.0131 | 1815 | c.244 others(1830): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1808): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0062 | 1 | 152 | 0.0066 | 1815 | c.244 others(1830): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1808): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0061 | 1 | 152 | 0.0066 | 1815 | c.244 others(1830): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132914028 | C | CCCCGAGG others(1808): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0026 | a0026c0016 | a0026c0016t0001 | a0026c0016t0001g0145 | 1 | 171 | 0.0058 | 1815 | c.212 others(1832): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1808): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 83 | 0.0120 | 1815 | c.724 others(1834): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928218 | G | GAGGTGGT others(1808): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 145 | 0.0069 | 1815 | c.190 others(1834): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1808): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0007 | a0007c0028 | a0007c0028t0017 | a0007c0028t0017g0089 | 1 | 3 | 0.3333 | 1815 | c.219 others(1834): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1808): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 |
a0001a0003 | a0001c0010a0003c0006 | a0001c0010t0001a0003c0006t0001 | a0001c0010t0001g0088 a0003c0006t0001g0108 |
2 | 4 | 0.5000 | 1815 | c.219 others(1834): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1808): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 3 | 0.3333 | 1815 | c.219 others(1834): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1808): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0014 | a0004c0014t0012 | a0004c0014t0012g0149 | 1 | 142 | 0.0070 | 1815 | c.*11 others(1836): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776231 | A | ACAGTCAT others(1808): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0040 | a0040c0127 | a0040c0127t0006 | a0040c0127t0006g0173 | 1 | 248 | 0.0040 | 1815 | c.129 others(1836): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502691 | A | ATGTGGGA others(1808): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 1 | 170 | 0.0059 | 1815 | c.147 others(1832): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222489 | T | TGGTGCAG others(1808): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 139 | 0.0072 | 1815 | c.719 others(1834): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1808): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 113 | 0.0088 | 1815 | c.*53 others(1826): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101 | 1 | 152 | 0.0066 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0141 | 1 | 152 | 0.0066 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 152 | 0.0066 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(75): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(11): Show | a0001c0001t0003g0004 a0001c0001t0003g0029 a0001c0001t0003g0108 others(30): Show |
78 | 229 | 0.3406 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19079.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0011g0122 |
3 | 154 | 0.0195 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01168.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0005g0125 a0001c0001t0005g0130 a0001c0001t0008g0126 others(7): Show |
13 | 164 | 0.0793 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1809): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0123 | 1 | 152 | 0.0066 | 1816 | c.244 others(1831): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1809): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 13 | 0.0769 | 1816 | c.354 others(1835): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1809): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0077 | 1 | 117 | 0.0085 | 1816 | c.183 others(1835): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23040841 | T | TGCGGGGG others(1809): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 344 | 0.0029 | 1816 | c.-12 others(1827): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1273 | chr15 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(1810): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 296 | 0.0101 | 1817 | c.147 others(1834): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0103 | 1 | 152 | 0.0066 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02055.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0003g0038 a0001c0001t0006g0007 a0001c0001t0006g0013 others(7): Show |
24 | 175 | 0.1371 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0073 | 1 | 152 | 0.0066 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00673.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0003g0019 a0001c0001t0005g0036 a0001c0001t0005g0089 others(20): Show |
37 | 188 | 0.1968 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0003g0033 a0001c0001t0003g0077 a0001c0001t0003g0176 others(4): Show |
8 | 159 | 0.0503 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
CCDC32_chr15_40548099_40570042 | 40561980 | T | TTCAGGAA others(1810): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037a0001c0001t0041 | a0001c0001t0036g0150 a0001c0001t0037g0148 a0001c0001t0041g0149 |
3 | 154 | 0.0195 | 1817 | c.244 others(1832): Show |
CCDC32 | ENSG00000128891.17 | transcript | ENST00000416810.7 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55473221 | A | ATGTGTGT others(1810): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 277 | 0.0036 | 1817 | c.406 others(1834): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCATCACC others(1810): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 258 | 0.0039 | 1817 | c.-25 others(1834): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |