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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPP2_chr19_276043_296403 | 282325 | GGACGTGT others(89): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 313 | 0.0032 | -96 | c.541 others(110): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282434 | TGTGCACC others(89): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 351 | 0.0028 | -96 | c.541 others(111): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20026838 | TACTTTTA others(89): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0029others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0010g0131 others(19): Show |
22 | 148 | 0.1486 | -96 | c.325 others(115): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20027023 | TAGAATAC others(89): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0032 | 1 | 178 | 0.0056 | -96 | c.325 others(115): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
POU6F1_chr12_51181936_51223062 | 51197043 | TGTCTACC others(89): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00733.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0032 a0001c0001t0001g0304 a0001c0001t0001g0329 others(27): Show |
43 | 188 | 0.2287 | -96 | c.847 others(111): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
PPP1R10_chr6_30595413_30622243 | 30602093 | TCCAGGGC others(89): Show |
T | disruptive_inframe_deletion | MODERATE | HG02056.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0096 | 1 | 458 | 0.0022 | -96 | c.246 others(105): Show |
p.Gly others(13): Show |
PPP1R10 | ENSG00000204569.10 | transcript | ENST00000376511.7 | protein_coding | 19/20 | 3107/4511 | 2460/2823 | 820/940 | chr6 | TogoVar | |||
PPP1R14C_chr6_150138044_150255392 | 150197943 | GGCTTTGT others(89): Show |
G | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 310 | 0.0032 | -96 | c.307 others(115): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R3C_chr10_91623442_91638071 | 91636352 | CACTTACG others(89): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0026 others(4): Show |
36 | 358 | 0.1006 | -96 | c.-34 others(107): Show |
PPP1R3C | ENSG00000119938.9 | transcript | ENST00000238994.6 | protein_coding | 3282 | chr10 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6336709 | CTCCCTCC others(89): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0046 a0001c0002t0021g0196 |
2 | 248 | 0.0081 | -96 | c.791 others(113): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 340051 | GGGGGGGT others(89): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0024 | 1 | 24 | 0.0417 | -96 | c.135 others(113): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 375463 | TGCAAACT others(89): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 |
a0004a0005 | a0004c0010a0005c0011 | a0004c0010t0008a0005c0011t0005 | a0004c0010t0008g0024 a0005c0011t0005g0025 |
2 | 24 | 0.0833 | -96 | c.324 others(115): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3162985 | CCGCAGAA others(89): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0194 | 1 | 173 | 0.0058 | -96 | c.38- others(113): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3163245 | GTCTAGAG others(89): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01255.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(12): Show | a0001c0001t0001g0150 a0001c0001t0008g0064 a0001c0001t0013g0002 others(14): Show |
17 | 208 | 0.0817 | -96 | c.38- others(113): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3165409 | TGACTCAC others(89): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG02145.hp1 others(24): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(22): Show | a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0003g0168 others(24): Show |
27 | 184 | 0.1467 | -96 | c.38- others(113): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3165754 | TGGGCCCA others(89): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0124 | 1 | 179 | 0.0056 | -96 | c.38- others(113): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDX1_chr1_45506051_45526884 | 45517815 | AGAAAGGA others(89): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(145): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(59): Show |
148 | 362 | 0.4088 | -96 | c.106 others(113): Show |
PRDX1 | ENSG00000117450.15 | transcript | ENST00000319248.13 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874429 | TATGATGT others(89): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 250 | 0.0040 | -96 | c.114 others(113): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798489 | CGGTGGTG others(89): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 114 | 0.0088 | -96 | c.185 others(115): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24159490 | TACCTCTA others(89): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02615.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0023a0001c0003t0008a0001c0003t0074others(5): Show | a0001c0002t0023g0077 a0001c0003t0008g0140 a0001c0003t0074g0145 others(5): Show |
8 | 146 | 0.0548 | -96 | c.123 others(115): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 10/16 | chr16 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 485741 | TGCGCAGG others(89): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01106.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0008 | a0001c0002t0001g0016 a0001c0002t0001g0122 a0002c0003t0008g0169 others(3): Show |
7 | 186 | 0.0376 | -96 | c.436 others(112): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42541484 | CACTAGTA others(89): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0025 | a0001c0025t0015 | a0001c0025t0015g0028 | 1 | 62 | 0.0161 | -96 | c.115 others(117): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248664 | TACACACA others(89): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 336 | 0.0030 | -96 | c.-53 others(115): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248688 | CGTATATA others(89): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0100 others(90): Show |
96 | 378 | 0.2540 | -96 | c.-53 others(115): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248696 | CACACACG others(89): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG03491.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0113 a0001c0001t0001g0184 a0001c0001t0002g0173 |
3 | 374 | 0.0080 | -96 | c.-53 others(115): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB20_chr13_110518066_110566722 | 110530651 | CCCACCTC others(89): Show |
C | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 424 | 0.0024 | -96 | c.173 others(113): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RANBP1_chr22_20111104_20132355 | 20121816 | GTATCCTC others(89): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG01952.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0027 others(8): Show |
33 | 430 | 0.0767 | -96 | c.384 others(111): Show |
RANBP1 | ENSG00000099901.18 | transcript | ENST00000430524.6 | protein_coding | 2/5 | chr22 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6780045 | TTACATAT others(89): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG03098.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0003g0049 a0001c0001t0004g0040 a0001c0001t0009g0036 others(2): Show |
5 | 68 | 0.0735 | -96 | c.-16 others(117): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBM25_chr14_73053534_73128899 | 73083269 | TGCAAATG others(89): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 386 | 0.0026 | -96 | c.325 others(111): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160311591 | ATTACTTT others(89): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0004g0013 others(36): Show |
39 | 326 | 0.1196 | -96 | c.402 others(113): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422584 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02717.hp2 others(5): Show |
a0004a0011a0014 | a0004c0003a0011c0014a0014c0026 | a0004c0003t0003a0011c0014t0001a0014c0026t0005 | a0004c0003t0003g0018 a0004c0003t0003g0019 a0004c0003t0003g0021 others(5): Show |
8 | 286 | 0.0280 | -96 | c.140 others(113): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RFX7_chr15_56082280_56248879 | 56110318 | GGGGGGGG others(89): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0217 | 1 | 358 | 0.0028 | -96 | c.402 others(113): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646099 | CTCCCTCT others(89): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0003a0015 | a0003c0040a0015c0046 | a0003c0040t0001a0015c0046t0004 | a0003c0040t0001g0171 a0015c0046t0004g0167 |
2 | 170 | 0.0118 | -96 | c.-35 others(117): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646118 | ACCACCTG others(89): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 158 | 0.0063 | -96 | c.-35 others(117): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646166 | ACCACCTG others(89): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0014 | 1 | 163 | 0.0061 | -96 | c.-35 others(117): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646346 | ACCACCTC others(89): Show |
A | intron_variant | MODIFIER | NA18986.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 a0001c0002t0001g0065 |
2 | 155 | 0.0129 | -96 | c.-35 others(117): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RNF138_chr18_32086874_32136561 | 32130972 | TCAAAGTT others(89): Show |
T | 3_prime_UTR_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 111 | 0.0090 | -96 | c.*18 others(107): Show |
RNF138 | ENSG00000134758.14 | transcript | ENST00000261593.8 | protein_coding | 8/8 | 1834 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80260571 | CCGGCGGC others(89): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02723.hp2 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(9): Show | a0001c0001t0001g0160 a0001c0001t0019g0079 a0001c0003t0001g0071 others(9): Show |
12 | 112 | 0.1071 | -96 | c.-43 others(105): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 280 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260631 | CCGGCGGC others(89): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01891.hp2 HG03130.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0074others(3): Show | a0001c0001t0041a0002c0002t0002a0003c0074t0010others(3): Show | a0001c0001t0041g0088 a0002c0002t0002g0141 a0003c0074t0010g0163 others(3): Show |
6 | 202 | 0.0297 | -96 | c.-37 others(105): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 220 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260661 | CCGGCGGC others(89): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0004 | a0004c0011 | a0004c0011t0005a0004c0011t0018 | a0004c0011t0005g0202 a0004c0011t0018g0225 |
2 | 264 | 0.0076 | -96 | c.-34 others(105): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 190 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260691 | CCGGCGGC others(89): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG01993.hp2 others(2): Show |
a0002a0005a0012 | a0002c0010a0005c0007a0012c0012 | a0002c0010t0008a0005c0007t0002a0012c0012t0042others(1): Show | a0002c0010t0008g0206 a0005c0007t0002g0200 a0005c0007t0002g0205 others(2): Show |
5 | 257 | 0.0195 | -96 | c.-31 others(105): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 160 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260721 | CCGGCGGC others(89): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0046 | a0046c0115 | a0046c0115t0003 | a0046c0115t0003g0035 | 1 | 242 | 0.0041 | -96 | c.-28 others(105): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 130 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80313866 | GTGAAGGT others(89): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01081.hp1 others(22): Show |
a0001a0002a0008others(7): Show | a0001c0006a0001c0075a0002c0002others(12): Show | a0001c0006t0010a0001c0075t0013a0002c0002t0002others(15): Show | a0001c0006t0010g0043 a0001c0075t0013g0099 a0002c0002t0002g0127 others(22): Show |
25 | 290 | 0.0862 | -96 | c.281 others(113): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80313905 | GTGGTGGT others(89): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01952.hp2 HG02083.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0029a0001c0125a0002c0002others(6): Show | a0001c0029t0006a0001c0029t0010a0001c0125t0010others(9): Show | a0001c0029t0006g0048 a0001c0029t0010g0049 a0001c0125t0010g0070 others(11): Show |
14 | 258 | 0.0543 | -96 | c.281 others(113): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80313992 | GTGAAGGT others(89): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 |
a0010a0025 | a0010c0016a0025c0088 | a0010c0016t0002a0025c0088t0011 | a0010c0016t0002g0136 a0025c0088t0011g0165 |
2 | 284 | 0.0070 | -96 | c.281 others(113): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314439 | GTGGAGGT others(89): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0077 | a0003c0077t0022 | a0003c0077t0022g0056 | 1 | 283 | 0.0035 | -96 | c.281 others(115): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314664 | GAGGTAAT others(89): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01106.hp1 others(17): Show |
a0001a0003a0013others(8): Show | a0001c0001a0001c0071a0001c0072others(11): Show | a0001c0001t0001a0001c0001t0019a0001c0071t0001others(12): Show | a0001c0001t0001g0160 a0001c0001t0019g0046 a0001c0071t0001g0052 others(17): Show |
20 | 290 | 0.0690 | -96 | c.281 others(115): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314838 | ATGGTGGT others(89): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0027 | a0027c0038 | a0027c0038t0003 | a0027c0038t0003g0007 | 1 | 243 | 0.0041 | -96 | c.281 others(115): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF44_chr5_176521712_176542402 | 176530228 | GGTCAGCC others(89): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(153): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(50): Show |
156 | 422 | 0.3697 | -96 | c.802 others(110): Show |
RNF44 | ENSG00000146083.12 | transcript | ENST00000274811.9 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
RNF44_chr5_176521712_176542402 | 176530240 | AGGCCTGC others(89): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0007 others(1): Show |
8 | 308 | 0.0260 | -96 | c.802 others(110): Show |
RNF44 | ENSG00000146083.12 | transcript | ENST00000274811.9 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
RNF44_chr5_176521712_176542402 | 176530270 | GGTGCAAG others(89): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 358 | 0.0028 | -96 | c.802 others(110): Show |
RNF44 | ENSG00000146083.12 | transcript | ENST00000274811.9 | protein_coding | 6/10 | chr5 | TogoVar |