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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(838): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0020others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0148 others(33): Show |
36 | 158 | 0.2278 | 845 | c.213 others(864): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(838): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0003g0142 others(5): Show |
8 | 130 | 0.0615 | 845 | c.213 others(864): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(838): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0018 | a0001c0002t0013a0001c0005t0005a0001c0018t0019 | a0001c0002t0013g0020 a0001c0002t0013g0140 a0001c0005t0005g0027 others(1): Show |
4 | 5 | 0.8000 | 845 | c.162 others(864): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(838): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0048 | a0048c0063 | a0048c0063t0003 | a0048c0063t0003g0293 | 1 | 24 | 0.0417 | 845 | c.371 others(862): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(838): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0014a0001c0001t0042others(4): Show | a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0001t0042g0124 others(4): Show |
7 | 76 | 0.0921 | 845 | c.438 others(864): 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(838): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0021 | a0001c0021t0049 | a0001c0021t0049g0023 | 1 | 70 | 0.0143 | 845 | c.438 others(864): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161764 | G | GTCCTCCT others(838): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 372 | 0.0027 | 845 | c.259 others(860): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1707307 | T | TTCACCAA others(838): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0304 | 1 | 319 | 0.0031 | 845 | c.201 others(864): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(838): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0052 | a0005c0052t0001 | a0005c0052t0001g0158 | 1 | 301 | 0.0033 | 845 | c.188 others(864): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(838): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0153 | 1 | 301 | 0.0033 | 845 | c.188 others(864): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(838): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0193 | 1 | 126 | 0.0079 | 845 | c.45- others(860): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(838): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 129 | 0.0078 | 845 | c.-75 others(864): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668499 | C | CACCCTCC others(838): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 253 | 0.0040 | 845 | c.249 others(864): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(838): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 2 | 0.5000 | 845 | c.-12 others(864): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(838): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0263 | 1 | 164 | 0.0061 | 845 | c.464 others(858): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(838): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | 165 | 0.0121 | 845 | c.464 others(858): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289848 | T | TCTCTGCT others(838): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0016 | 1 | 239 | 0.0042 | 845 | c.166 others(862): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(838): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0199 | 1 | 168 | 0.0060 | 845 | c.323 others(864): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(838): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0092 |
2 | 3 | 0.6667 | 845 | c.227 others(864): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(838): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0183 |
2 | 4 | 0.5000 | 845 | c.597 others(862): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(838): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02083.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0028others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 others(20): Show |
23 | 25 | 0.9200 | 845 | c.597 others(862): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628356 | C | CGGGGTGA others(838): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0059 | 1 | 238 | 0.0042 | 845 | c.299 others(860): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(838): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02055.hp2 HG02083.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0043 others(8): Show |
12 | 309 | 0.0388 | 845 | c.327 others(862): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(838): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18998.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0022 | a0001c0001t0001g0133 a0001c0001t0016g0135 a0001c0001t0022g0134 |
3 | 300 | 0.0100 | 845 | c.327 others(862): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113812964 | C | CCCCAGGT others(838): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0015 | a0001c0015t0042 | a0001c0015t0042g0228 | 1 | 238 | 0.0042 | 845 | c.*10 others(856): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1065 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(838): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 50 | 0.0200 | 845 | c.*24 others(856): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(838): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0350 | 1 | 455 | 0.0022 | 845 | c.-6- others(860): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(838): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 105 | 0.0095 | 845 | c.82+ others(860): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAC others(839): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0020 a0001c0009t0002g0123 |
2 | 13 | 0.1538 | 846 | c.387 others(865): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(839): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0065 | a0001c0001t0011g0233 a0001c0001t0065g0237 |
2 | 203 | 0.0099 | 846 | c.61+ others(861): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(839): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 159 | 0.0063 | 846 | c.505 others(865): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(839): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 30 | 0.0333 | 846 | c.505 others(865): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(839): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0007 | 1 | 112 | 0.0089 | 846 | c.48- others(863): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 134 | 0.0075 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350011 | G | GAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0331 | 1 | 227 | 0.0044 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 248 | 0.0040 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(839): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 |
a0001a0017 | a0001c0106a0017c0072 | a0001c0106t0036a0017c0072t0007 | a0001c0106t0036g0329 a0017c0072t0007g0330 |
2 | 75 | 0.0267 | 846 | c.-48 others(863): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(839): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 167 | 0.0060 | 846 | c.-46 others(857): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(839): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 218 | 0.0046 | 846 | c.*36 others(857): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(839): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 28 | 0.0714 | 846 | c.94+ others(861): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(839): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 27 | 0.0370 | 846 | c.94+ others(861): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128089 | C | CCTGTCAC others(839): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 318 | 0.0031 | 846 | c.-1- others(859): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGGC others(839): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0016 | a0016c0018 | a0016c0018t0011 | a0016c0018t0011g0073 | 1 | 103 | 0.0097 | 846 | c.300 others(863): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209198 | C | CTCCTTCC others(839): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 135 | 0.0074 | 846 | c.244 others(865): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(839): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0092 | 1 | 56 | 0.0179 | 846 | c.-29 others(857): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(839): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03017.hp1 HG04115.hp2 others(5): Show |
a0001a0003a0022 | a0001c0004a0003c0003a0003c0043others(1): Show | a0001c0004t0001a0003c0003t0002a0003c0043t0002others(1): Show | a0001c0004t0001g0009 a0003c0003t0002g0013 a0003c0003t0002g0064 others(5): Show |
8 | 255 | 0.0314 | 846 | c.411 others(863): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293454 | C | CCACCTTC others(839): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01361.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0081 a0001c0011t0001g0212 |
2 | 273 | 0.0073 | 846 | c.411 others(863): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(839): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 38 | 0.0263 | 846 | c.248 others(863): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(839): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 38 | 0.0263 | 846 | c.248 others(863): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(839): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18951.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0236 a0002c0002t0002g0071 |
2 | 5 | 0.4000 | 846 | c.342 others(865): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar |