| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(658): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0074 | 1 | 164 | 0.0061 | 665 | c.923 others(684): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DPEP1_chr16_89608642_89643433 | 89619252 | C | CTGCTCCC others(658): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 163 | 0.0061 | 665 | c.-10 others(684): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| DPEP1_chr16_89608642_89643433 | 89619485 | C | CTGCCCCC others(658): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 232 | 0.0043 | 665 | c.-10 others(684): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355435 | T | TGGAGGAA others(658): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0027 | a0027c0017 | a0027c0017t0001 | a0027c0017t0001g0007 | 1 | 76 | 0.0132 | 665 | c.758 others(680): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
| F10_chr13_113117799_113154529 | 113151632 | C | CCCTGAGG others(658): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 409 | 0.0024 | 665 | c.*21 others(676): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 2104 | chr13 | TogoVar | |||||||
| FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(658): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18972.hp1 NA18986.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 others(2): Show |
5 | 67 | 0.0746 | 665 | c.-10 others(684): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1317227 | C | CTCCCCCC others(658): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02723.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 3 | 400 | 0.0075 | 665 | c.*33 others(676): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2470 | chr6 | TogoVar | |||||||
| GATC_chr12_120441444_120468749 | 120467991 | A | AGCTGAGG others(658): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 388 | 0.0026 | 665 | c.*80 others(676): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 4243 | chr12 | TogoVar | |||||||
| HS3ST6_chr16_1906475_1923415 | 1920388 | A | AGTCCCCA others(658): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 223 | 0.0045 | 665 | c.-20 others(676): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 1974 | chr16 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132719526 | G | GTCTTGCG others(658): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(5): Show |
8 | 202 | 0.0396 | 665 | c.648 others(682): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775011 | G | GGAGGGGC others(658): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 194 | 0.0052 | 665 | c.978 others(682): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(658): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0131 | 1 | 5 | 0.2000 | 665 | c.-46 others(676): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(658): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0015 | a0001c0001t0002g0031 a0001c0001t0013g0092 a0001c0001t0015g0019 |
5 | 9 | 0.5556 | 665 | c.-46 others(676): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(658): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 11 | 0.0909 | 665 | c.*52 others(676): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(658): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0021 | a0021c0033 | a0021c0033t0001 | a0021c0033t0001g0017 | 1 | 8 | 0.1250 | 665 | c.507 others(684): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(658): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0015 | a0015c0069 | a0015c0069t0004 | a0015c0069t0004g0066 | 1 | 8 | 0.1250 | 665 | c.507 others(684): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204732 | C | CACACACC others(658): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 260 | 0.0038 | 665 | c.212 others(684): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(658): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02132.hp2 HG02135.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0003a0003c0005others(1): Show | a0001c0004t0002a0001c0004t0029a0002c0003t0002others(2): Show | a0001c0004t0002g0180 a0001c0004t0029g0154 a0002c0003t0002g0069 others(3): Show |
6 | 11 | 0.5455 | 665 | c.368 others(682): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(658): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 194 | 0.0052 | 665 | c.*56 others(676): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(658): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 HG02970.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0252 a0001c0001t0001g0306 others(1): Show |
4 | 197 | 0.0203 | 665 | c.*56 others(676): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(658): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 a0001c0001t0001g0354 a0001c0001t0001g0417 |
3 | 196 | 0.0153 | 665 | c.*56 others(676): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCATCACC others(658): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 252 | 0.0040 | 665 | c.391 others(680): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCCCT others(658): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0210 | 1 | 125 | 0.0080 | 665 | c.-49 others(676): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
| NFILZ_chr19_8625633_8686151 | 8656420 | C | CTTCTCTC others(658): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0250 | 1 | 322 | 0.0031 | 665 | c.-16 others(686): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(658): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0009 | a0002c0009t0005 | a0002c0009t0005g0143 | 1 | 118 | 0.0085 | 665 | c.-75 others(684): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(658): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 110 | 0.0091 | 665 | c.902 others(680): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(658): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0257 | 1 | 8 | 0.1250 | 665 | c.140 others(682): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76305451 | T | TGTATCCA others(658): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0043 | a0010c0043t0024 | a0010c0043t0024g0136 | 1 | 164 | 0.0061 | 665 | c.360 others(684): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(658): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0129 | 1 | 224 | 0.0045 | 665 | c.*39 others(676): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(658): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03704.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 |
3 | 198 | 0.0152 | 665 | c.106 others(682): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(658): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 196 | 0.0051 | 665 | c.106 others(682): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | |||||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TATAATTA others(658): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0091 | 1 | 25 | 0.0400 | 665 | c.862 others(682): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(658): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0007 | a0002c0007t0024 | a0002c0007t0024g0070 | 1 | 122 | 0.0082 | 665 | c.387 others(684): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(658): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 199 | 0.0050 | 665 | c.-46 others(676): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(658): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01346.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0024 a0001c0001t0001g0066 a0001c0001t0001g0067 others(3): Show |
7 | 205 | 0.0341 | 665 | c.-46 others(676): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227472 | C | CACCCCTC others(658): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 442 | 0.0023 | 665 | c.449 others(680): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114099760 | C | CCCCCCAC others(658): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 59 | 0.0169 | 665 | c.56- others(682): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130393038 | T | TGTGTCTG others(658): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 a0001c0002t0001g0095 |
2 | 172 | 0.0116 | 665 | c.*43 others(676): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3094 | chr12 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(658): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0005 | 1 | 39 | 0.0256 | 665 | c.351 others(684): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
| SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(658): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 149 | 0.0067 | 665 | c.-12 others(684): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 4264045 | C | CGTAGACC others(658): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0084 | 1 | 100 | 0.0100 | 665 | c.638 others(684): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(658): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104 a0001c0001t0002g0068 |
2 | 41 | 0.0488 | 665 | c.77- others(682): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(658): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048 a0001c0001t0002g0040 |
2 | 46 | 0.0435 | 665 | c.22+ others(682): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48499782 | T | TGAACCTG others(658): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0063 a0001c0001t0003g0100 |
2 | 195 | 0.0103 | 665 | c.233 others(682): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| SHISA5_chr3_48462876_48509174 | 48499782 | T | TGAACCTG others(658): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 194 | 0.0052 | 665 | c.233 others(682): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(658): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097 | 1 | 2 | 0.5000 | 665 | c.624 others(680): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(658): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 2 | 0.5000 | 665 | c.624 others(680): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(658): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show |
5 | 6 | 0.8333 | 665 | c.624 others(680): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 507739 | A | ACAGACGC others(658): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0004 | a0002c0004t0025 | a0002c0004t0025g0143 | 1 | 111 | 0.0090 | 665 | c.212 others(684): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(658): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 135 | 0.0074 | 665 | c.*12 others(676): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar |