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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ6_chr21_37602373_37921457 | 37707711 | T | TAGTGTGT others(481): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0155 | a0001c0002t0155g0148 | 1 | 26 | 0.0385 | 488 | c.946 others(505): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37707712 | A | AGTGTGTG others(481): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01891.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0027others(20): Show | a0001c0001t0012g0002 a0001c0001t0014g0159 a0001c0001t0027g0124 others(20): Show |
23 | 194 | 0.1186 | 488 | c.946 others(505): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KIAA0232_chr4_6777727_6889164 | 6879827 | C | CCCTCACC others(481): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 349 | 0.0029 | 488 | c.400 others(505): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997285 | G | GGGGCGGG others(481): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0338 | 1 | 351 | 0.0028 | 488 | c.-21 others(499): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 385 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997385 | G | GGCGGGGG others(481): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0156 | 1 | 358 | 0.0028 | 488 | c.-20 others(499): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 285 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471567 | T | TTTATATA others(481): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 237 | 0.0042 | 488 | c.125 others(505): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507525 | G | GTGGAGGG others(481): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 216 | 0.0046 | 488 | c.624 others(505): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507824 | G | GGGGGTAG others(481): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 174 | 0.0057 | 488 | c.625 others(505): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 960310 | T | TGGATCAC others(481): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01361.hp2 HG03130.hp2 |
a0001a0002 | a0001c0005a0002c0007a0002c0054 | a0001c0005t0012a0002c0007t0001a0002c0054t0001 | a0001c0005t0012g0110 a0002c0007t0001g0120 a0002c0054t0001g0111 |
3 | 278 | 0.0108 | 488 | c.194 others(505): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LOC128462377_chr16_89312046_89423292 | 89412051 | T | TCTCCCAG others(481): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 198 | 0.0051 | 488 | c.9+6 others(501): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
LRRC23_chr12_6899822_6919229 | 6909272 | A | ATATATTA others(481): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0102 | 1 | 314 | 0.0032 | 488 | c.622 others(503): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186042 | G | GACACGGG others(481): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 285 | 0.0035 | 488 | c.*31 others(499): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2947 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186408 | G | GGAGGAAC others(481): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 294 | 0.0034 | 488 | c.*27 others(499): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2581 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187104 | G | GGGAGGAA others(481): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 333 | 0.0030 | 488 | c.*20 others(499): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1885 | chr16 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(481): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 10 | 0.1000 | 488 | c.180 others(507): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MEX3D_chr19_1549672_1573325 | 1550131 | C | CCCACCCA others(481): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(75): Show |
a0001a0007a0011others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(43): Show |
78 | 322 | 0.2422 | 488 | c.*54 others(499): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4540 | chr19 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767629 | A | AGGGGCGC others(481): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0204 | 1 | 357 | 0.0028 | 488 | c.159 others(505): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(481): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01106.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0071 a0001c0001t0003g0118 others(1): Show |
4 | 11 | 0.3636 | 488 | c.293 others(507): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(481): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0001 a0001c0001t0003g0041 a0001c0001t0003g0063 others(18): Show |
22 | 29 | 0.7586 | 488 | c.293 others(507): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(481): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 8 | 0.1250 | 488 | c.293 others(507): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(481): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 8 | 0.1250 | 488 | c.293 others(507): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(481): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0046 | 1 | 168 | 0.0060 | 488 | c.394 others(503): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYCBP_chr1_38857493_38878348 | 38870012 | C | CAAAAAAA others(481): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 417 | 0.0024 | 488 | c.89- others(503): Show |
MYCBP | ENSG00000214114.9 | transcript | ENST00000397572.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15821935 | A | AAAAAAAA others(481): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20300.hp2 |
a0001 | a0001c0050a0001c0063 | a0001c0050t0003a0001c0063t0003 | a0001c0050t0003g0036 a0001c0063t0003g0166 |
2 | 254 | 0.0079 | 488 | c.502 others(505): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
MYH11_chr16_15698135_15862028 | 15821935 | A | AAAAAAAA others(481): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp2 HG03516.hp2 others(1): Show |
a0001a0009 | a0001c0002a0001c0014a0001c0022others(1): Show | a0001c0002t0001a0001c0014t0013a0001c0022t0001others(1): Show | a0001c0002t0001g0023 a0001c0014t0013g0296 a0001c0022t0001g0188 others(1): Show |
4 | 256 | 0.0156 | 488 | c.502 others(505): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 3/40 | chr16 | TogoVar | |||||||
NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(481): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0271 | 1 | 220 | 0.0045 | 488 | c.*92 others(499): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGG others(481): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0040a0001c0002t0076 | a0001c0002t0040g0231 a0001c0002t0076g0186 |
2 | 221 | 0.0090 | 488 | c.*92 others(499): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | |||||||
NTN4_chr12_95652807_95795764 | 95655162 | A | ACGAGATG others(481): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 123 | 0.0081 | 488 | c.*39 others(499): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2644 | chr12 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62137609 | G | GGACACAG others(481): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0106 | 1 | 4 | 0.2500 | 488 | c.527 others(507): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842860 | C | CTATCGAT others(481): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0022 | 1 | 431 | 0.0023 | 488 | c.-26 others(499): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2206 | chr20 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285879 | T | TCCCAACC others(481): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 434 | 0.0023 | 488 | c.111 others(505): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(481): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0218 | 1 | 320 | 0.0031 | 488 | c.-10 others(505): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(5): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0266 a0001c0001t0001g0296 a0001c0001t0001g0297 others(5): Show |
8 | 342 | 0.0234 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0144 | 1 | 335 | 0.0030 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0363 | 1 | 335 | 0.0030 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0386 a0001c0001t0001g0387 |
2 | 336 | 0.0060 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(65): Show |
80 | 414 | 0.1932 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 335 | 0.0030 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 335 | 0.0030 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 335 | 0.0030 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43665713 | C | CCAGGCTG others(481): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18963.hp1 NA19060.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0201 a0002c0002t0001g0045 |
3 | 337 | 0.0089 | 488 | c.167 others(503): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(481): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0004 | 1 | 140 | 0.0071 | 488 | c.309 others(507): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298246 | T | TCTGTCTC others(481): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0010 | a0001c0010t0041 | a0001c0010t0041g0167 | 1 | 164 | 0.0061 | 488 | c.734 others(503): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCCGG others(481): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0057 | a0001c0001t0003a0002c0057t0001 | a0001c0001t0003g0028 a0002c0057t0001g0027 |
2 | 3 | 0.6667 | 488 | c.45+ others(499): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4802890 | G | GCCCCCTC others(481): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 289 | 0.0035 | 488 | c.249 others(505): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(481): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0176 | 1 | 10 | 0.1000 | 488 | c.80+ others(505): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(481): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0017 | 1 | 10 | 0.1000 | 488 | c.80+ others(505): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124320025 | G | GGATGACA others(481): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0236 | 1 | 262 | 0.0038 | 488 | c.*55 others(499): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 4002 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(481): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03225.hp2 |
a0001a0007 | a0001c0004a0007c0018 | a0001c0004t0007a0007c0018t0001 | a0001c0004t0007g0053 a0007c0018t0001g0052 |
2 | 67 | 0.0299 | 488 | c.*44 others(499): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668573 | T | TCTCCCTC others(481): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0043 | a0002c0043t0002 | a0002c0043t0002g0141 | 1 | 256 | 0.0039 | 488 | c.249 others(507): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar |