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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(797): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0188a0001c0003t0189a0001c0003t0190 | a0001c0003t0188g0234 a0001c0003t0189g0237 a0001c0003t0190g0235 |
3 | 358 | 0.0084 | 804 | c.122 others(821): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 420935 | A | AAAATACA others(797): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0251 a0003c0003t0001g0341 |
2 | 428 | 0.0047 | 804 | c.413 others(821): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61823304 | G | GGTGATGA others(797): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001 | 1 | 96 | 0.0104 | 804 | c.577 others(823): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591893 | A | ATGGTGTT others(797): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 NA18906.hp1 |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0127 a0001c0017t0001g0128 a0001c0017t0001g0142 |
3 | 337 | 0.0089 | 804 | c.373 others(821): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(797): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0003 | a0003c0004 | a0003c0004t0010 | a0003c0004t0010g0010 | 2 | 39 | 0.0513 | 804 | c.248 others(821): 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(797): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0286 | 1 | 38 | 0.0263 | 804 | c.248 others(821): 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(797): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01256.hp2 others(27): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(26): Show |
30 | 67 | 0.4478 | 804 | c.248 others(821): 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(797): Show |
intron_variant | MODIFIER | HG01981.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0105 a0001c0001t0050g0080 |
2 | 39 | 0.0513 | 804 | c.248 others(821): 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(797): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 38 | 0.0263 | 804 | c.248 others(821): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(797): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0125 | 1 | 2 | 0.5000 | 804 | c.162 others(825): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TACACATA others(797): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 804 | c.*19 others(815): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(797): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 others(4): Show |
7 | 276 | 0.0254 | 804 | c.-51 others(815): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242077 | C | CGGGGCCC others(797): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0036 | 1 | 172 | 0.0058 | 804 | c.107 others(823): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591893 | A | ATGGTGTT others(797): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018 | a0001c0001t0009g0030 a0001c0001t0018g0063 |
3 | 392 | 0.0077 | 804 | c.*49 others(815): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3908 | chr5 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(797): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 285 | 0.0035 | 804 | c.666 others(821): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173160 | C | CCCCCTCC others(797): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 | 1 | 152 | 0.0066 | 804 | c.*11 others(825): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(797): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 220 | 0.0045 | 804 | c.129 others(823): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(797): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 83 | 0.0120 | 804 | c.377 others(821): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(797): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 |
a0062a0071 | a0062c0090a0071c0089 | a0062c0090t0023a0071c0089t0027 | a0062c0090t0023g0264 a0071c0089t0027g0265 |
2 | 84 | 0.0238 | 804 | c.377 others(821): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MNAT1_chr14_60729761_60974965 | 60884044 | T | TGGATGTC others(797): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 |
2 | 269 | 0.0074 | 804 | c.809 others(821): Show |
MNAT1 | ENSG00000020426.11 | transcript | ENST00000261245.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(797): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 8 | 0.1250 | 804 | c.250 others(819): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(797): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 8 | 0.1250 | 804 | c.250 others(819): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233382 | A | ACCCACCA others(797): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 134 | 0.0075 | 804 | c.133 others(823): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(797): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0053 a0001c0001t0001g0167 a0001c0001t0009g0160 |
3 | 66 | 0.0455 | 804 | c.166 others(823): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(797): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0007 | 1 | 56 | 0.0179 | 804 | c.123 others(823): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237641 | A | ATACTACA others(797): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0002g0063 |
3 | 430 | 0.0070 | 804 | c.-17 others(815): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1644 | chr14 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950975 | A | ACACACGT others(797): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 201 | 0.0050 | 804 | c.-24 others(815): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2264 | chr16 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTTCCTTC others(797): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0178 | 1 | 131 | 0.0076 | 804 | c.773 others(819): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(797): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 804 | c.-26 others(815): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(797): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 140 | 0.0071 | 804 | c.309 others(823): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163033 | G | GCGCAGAA others(797): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0128 | 1 | 143 | 0.0070 | 804 | c.38- others(821): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55207808 | T | TCCTGGGT others(797): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(27): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0020a0002c0002others(9): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0230 others(25): Show |
30 | 246 | 0.1220 | 804 | c.52- others(817): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
PTPRH_chr19_55176247_55214501 | 55207808 | T | TCCTGGGT others(797): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02155.hp1 |
a0006 | a0006c0025 | a0006c0025t0001 | a0006c0025t0001g0028 | 2 | 218 | 0.0092 | 804 | c.52- others(817): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
RGPD8_chr2_112363369_112438645 | 112432885 | T | TCCGCCTC others(797): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01358.hp1 others(2): Show |
a0007 | a0007c0010a0007c0022 | a0007c0010t0006a0007c0022t0006 | a0007c0010t0006g0008 a0007c0010t0006g0009 a0007c0010t0006g0010 others(2): Show |
5 | 203 | 0.0246 | 804 | c.72+ others(817): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646154 | T | TCCACCTC others(797): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 110 | 0.0091 | 804 | c.-35 others(825): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646173 | G | GCCTCGCC others(797): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0041 | 1 | 118 | 0.0085 | 804 | c.-35 others(825): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(797): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0087 | 1 | 125 | 0.0080 | 804 | c.389 others(825): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 256255 | C | CGCATGGC others(797): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056 | 1 | 118 | 0.0085 | 804 | c.439 others(821): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(797): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 158 | 0.0063 | 804 | c.626 others(821): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(797): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 158 | 0.0063 | 804 | c.626 others(821): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC27A5_chr19_58493333_58516992 | 58502500 | T | TAGAGTAG others(797): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 417 | 0.0024 | 804 | c.105 others(823): Show |
SLC27A5 | ENSG00000083807.10 | transcript | ENST00000263093.7 | protein_coding | 3/9 | chr19 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 105125722 | T | TAGAATCT others(797): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 134 | 0.0075 | 804 | c.121 others(825): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(797): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0094 | 1 | 3 | 0.3333 | 804 | c.597 others(821): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(797): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0015 | 1 | 274 | 0.0036 | 804 | c.218 others(821): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(797): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 62 | 0.0161 | 804 | c.*53 others(815): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(797): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0004 | 1 | 209 | 0.0048 | 804 | c.*79 others(813): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(797): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 177 | 0.0056 | 804 | c.53+ others(819): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(797): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0143 | 1 | 12 | 0.0833 | 804 | c.55+ others(819): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(797): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 25 | 0.0400 | 804 | c.483 others(819): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294192 | A | AACTCTAG others(797): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 298 | 0.0034 | 804 | c.340 others(821): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |