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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(42): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 others(42): Show |
45 | 165 | 0.2727 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0269 | 1 | 121 | 0.0083 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0231 |
2 | 122 | 0.0164 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 others(3): Show |
6 | 126 | 0.0476 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 121 | 0.0083 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0023 |
2 | 122 | 0.0164 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 121 | 0.0083 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772609 | T | TATATATG others(777): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0051 |
2 | 37 | 0.0541 | 784 | c.62+ others(799): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82765169 | C | CTGTGTGC others(777): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0041 | a0001c0041t0003 | a0001c0041t0003g0133 | 1 | 167 | 0.0060 | 784 | c.334 others(801): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272607 | C | CCACACAT others(777): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 204 | 0.0049 | 784 | c.228 others(801): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(777): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 8 | 0.1250 | 784 | c.424 others(801): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(777): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 8 | 0.1250 | 784 | c.424 others(801): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAC others(777): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0115 | 1 | 162 | 0.0062 | 784 | c.519 others(799): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(777): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0125 | 1 | 98 | 0.0102 | 784 | c.41- others(801): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(777): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 289 | 0.0035 | 784 | c.*35 others(803): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(777): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 289 | 0.0035 | 784 | c.*35 others(803): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(777): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 83 | 0.0120 | 784 | c.392 others(801): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(777): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 113 | 0.0088 | 784 | c.*53 others(795): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(777): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 2 | 0.5000 | 784 | c.*53 others(795): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467304 | A | AGGGAGGG others(777): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 259 | 0.0039 | 784 | c.*92 others(793): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 795 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(777): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 100 | 0.0100 | 784 | c.-10 others(801): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCCTCCC others(777): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 9 | 0.1111 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(777): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 9 | 0.1111 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(777): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 9 | 0.1111 | 784 | c.4-1 others(797): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AGPAT2_chr9_136668143_136692457 | 136675470 | C | CAGCAGGG others(778): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 337 | 0.0030 | 785 | c.589 others(800): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(778): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03209.hp2 NA19004.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0005a0001c0011t0001a0002c0002t0005 | a0001c0001t0005g0207 a0001c0011t0001g0056 a0002c0002t0005g0024 |
3 | 5 | 0.6000 | 785 | c.787 others(800): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687793 | A | ACCCCGTG others(778): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 232 | 0.0043 | 785 | c.-21 others(796): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1948 | chr8 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(778): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0095 | 1 | 196 | 0.0051 | 785 | c.963 others(802): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(778): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 5 | 0.2000 | 785 | c.234 others(806): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(778): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 235 | 0.0043 | 785 | c.-34 others(796): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 2 | 0.5000 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 2 | 0.5000 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19084.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0142 a0001c0003t0007g0126 |
2 | 3 | 0.6667 | 785 | c.162 others(806): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(778): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 42 | 0.0238 | 785 | c.844 others(802): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGGGTGTG others(778): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp2 HG02165.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0006 | a0001c0001t0001g0081 a0001c0001t0001g0237 a0001c0001t0001g0256 others(2): Show |
5 | 94 | 0.0532 | 785 | c.268 others(804): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGGGTGTG others(778): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01255.hp1 others(24): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0244 others(24): Show |
27 | 116 | 0.2328 | 785 | c.268 others(804): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657126 | G | GGGGGTGG others(778): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0016 | a0001c0016t0001a0001c0016t0012a0001c0016t0046 | a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 |
3 | 265 | 0.0113 | 785 | c.109 others(804): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(778): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0118 | 1 | 97 | 0.0103 | 785 | c.923 others(804): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(778): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0282 | 1 | 158 | 0.0063 | 785 | c.126 others(802): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(778): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0033 | a0033c0041 | a0033c0041t0001 | a0033c0041t0001g0009 | 1 | 98 | 0.0102 | 785 | c.118 others(804): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659660 | A | AGGGGGTG others(778): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 373 | 0.0027 | 785 | c.*49 others(796): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4539 | chr8 | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(778): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 270 | 0.0037 | 785 | c.-51 others(796): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(778): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 12 | 0.0833 | 785 | c.617 others(802): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930374 | C | CCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 136 | 0.0074 | 785 | c.123 others(806): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(778): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0271 | 1 | 223 | 0.0045 | 785 | c.*51 others(796): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(778): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 213 | 0.0047 | 785 | c.*49 others(796): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(778): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 5 | 0.2000 | 785 | c.278 others(804): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(778): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 96 | 0.0104 | 785 | c.278 others(804): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806277 | G | GCCCAGGG others(778): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 259 | 0.0039 | 785 | c.*21 others(796): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1991 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(778): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 296 | 0.0068 | 785 | c.-26 others(796): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar |