regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIMBP2_chr12_130391133_130721299 | 130532634 | TACGTCTA others(31): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0052 | 1 | 180 | 0.0056 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130532843 | GTGTTTAG others(31): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01256.hp2 others(7): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0113a0001c0002t0002g0017others(7): Show | 10 | 180 | 0.0556 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130535728 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG01346.hp1 others(19): Show |
a0001a0011a0017 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0119others(19): Show | 22 | 180 | 0.1222 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130539577 | GGGTGGCC others(31): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 180 | 0.0056 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130539730 | GGTGGCCA others(31): Show |
G | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0004a0006 | a0004c0040a0006c0018 | a0004c0040t0001a0006c0018t0001 | a0004c0040t0001g0171a0006c0018t0001g0052 | 2 | 180 | 0.0111 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130539860 | ATATGGCA others(31): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0001a0003 | a0001c0004a0003c0030 | a0001c0004t0001a0003c0030t0002 | a0001c0004t0001g0180a0003c0030t0002g0137 | 2 | 180 | 0.0111 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130539898 | CTATGGCA others(31): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01175.hp2 others(8): Show |
a0001a0009a0018 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0030a0001c0001t0001g0146others(8): Show | 11 | 180 | 0.0611 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130540028 | AGATGAGG others(31): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00639.hp1 others(33): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0069others(33): Show | 36 | 180 | 0.2000 | -38 | c.-21 others(59): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
RIMKLA_chr1_42375792_42429232 | 42385827 | CCTTTCTT others(31): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03491.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0089 | a0001c0001t0036g0018a0001c0001t0089g0157 | 3 | 356 | 0.0084 | -38 | c.163 others(55): Show |
RIMKLA | ENSG00000177181.15 | transcript | ENST00000431473.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RIMS1_chr6_71881550_72408145 | 72275120 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 140 | 0.0071 | -38 | c.348 others(55): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RIOK3_chr18_23448287_23488140 | 23478606 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(230): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(215): Show | 233 | 402 | 0.5796 | -38 | c.134 others(55): Show |
RIOK3 | ENSG00000101782.15 | transcript | ENST00000339486.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RIT2_chr18_42738227_43120685 | 42905984 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 240 | 0.0042 | -38 | c.426 others(57): Show |
RIT2 | ENSG00000152214.14 | transcript | ENST00000326695.10 | protein_coding | 4/4 | chr18 | TogoVar | ||||||
RMND5A_chr2_86715291_86783041 | 86762671 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 304 | 0.0033 | -38 | c.522 others(55): Show |
RMND5A | ENSG00000153561.13 | transcript | ENST00000283632.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RNASET2_chr6_166917113_166961550 | 166955193 | ACACGCAC others(31): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG02027.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0018a0001c0001t0115a0001c0001t0127others(15): Show | a0001c0001t0018g0214a0001c0001t0018g0225a0001c0001t0115g0228others(25): Show | 28 | 346 | 0.0809 | -38 | c.86+ others(51): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(31): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0023others(5): Show | 12 | 372 | 0.0323 | -38 | c.554 others(53): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RNF148_chr7_122696668_122707922 | 122705473 | ATATATTT others(31): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 432 | 0.0023 | -38 | c.-27 others(49): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 2552 | chr7 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80355523 | AGGGGGAA others(31): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG06807.hp1 |
a0011 | a0011c0036a0011c0037 | a0011c0036t0043a0011c0037t0020 | a0011c0036t0043g0280a0011c0037t0020g0282a0011c0037t0020g0283 | 3 | 292 | 0.0103 | -38 | c.108 others(57): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80355635 | AGGGGAAG others(31): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0053 | a0001c0053t0029 | a0001c0053t0029g0205 | 1 | 292 | 0.0034 | -38 | c.108 others(59): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF38_chr9_36331400_36405269 | 36341793 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0022a0001c0001t0004g0023a0001c0001t0004g0025others(1): Show | 4 | 402 | 0.0100 | -38 | c.148 others(55): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 11/11 | chr9 | TogoVar | ||||||
RNF38_chr9_36331400_36405269 | 36341829 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 402 | 0.0025 | -38 | c.148 others(55): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 11/11 | chr9 | TogoVar | ||||||
RNF44_chr5_176521712_176542402 | 176528785 | CACTCAGG others(31): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0195 | 1 | 444 | 0.0023 | -38 | c.*20 others(47): Show |
RNF44 | ENSG00000146083.12 | transcript | ENST00000274811.9 | protein_coding | 11/11 | 205 | chr5 | TogoVar | |||||
RNFT2_chr12_116733315_116858631 | 116841808 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0011 | a0001c0001t0011g0099a0001c0001t0011g0160a0001c0002t0011g0097others(1): Show | 4 | 268 | 0.0149 | -38 | c.120 others(57): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RNGTT_chr6_88604897_88968618 | 88739725 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0165 | 2 | 220 | 0.0091 | -38 | c.143 others(59): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60516173 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02886.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0012a0001c0001t0018a0001c0001t0024others(3): Show | a0001c0001t0012g0025a0001c0001t0012g0034a0001c0001t0012g0090others(8): Show | 11 | 118 | 0.0932 | -38 | c.283 others(55): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597537 | ACACACAC others(31): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01123.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(4): Show | a0001c0001t0001g0046a0001c0001t0002g0030a0001c0001t0017g0014others(5): Show | 8 | 118 | 0.0678 | -38 | c.197 others(57): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
RPA2_chr1_27886524_27919575 | 27916948 | CCTTCCTC others(31): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 364 | 0.0028 | -38 | c.-25 others(49): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2374 | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 345640 | ACGCACAC others(31): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(40): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0030others(40): Show | 43 | 133 | 0.3233 | -38 | c.-21 others(57): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
RPL22L1_chr3_170859875_170875195 | 170868832 | AAAGAAAA others(31): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 458 | 0.0022 | -38 | c.10- others(51): Show |
RPL22L1 | ENSG00000163584.18 | transcript | ENST00000295830.13 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
RPL26_chr17_8372516_8388193 | 8384050 | CGTGTGTG others(31): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0048 | 2 | 422 | 0.0047 | -38 | c.-93 others(47): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 858 | chr17 | TogoVar | ||||||
RPL3_chr22_39307882_39324623 | 39324359 | AATTCATT others(31): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 382 | 0.0026 | -38 | c.-48 others(49): Show |
RPL3 | ENSG00000100316.16 | transcript | ENST00000216146.9 | protein_coding | 4737 | chr22 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166510554 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00741.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0081a0001c0001t0001g0086a0001c0001t0001g0094others(45): Show | 48 | 244 | 0.1967 | -38 | c.299 others(53): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044354 | AGAAAGAA others(31): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0024a0001c0001t0027others(17): Show | a0001c0001t0013g0013a0001c0001t0024g0057a0001c0001t0024g0058others(19): Show | 22 | 306 | 0.0719 | -38 | c.103 others(57): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213119425 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01884.hp2 others(9): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0102a0001c0001t0001g0104a0001c0001t0001g0105others(9): Show | 12 | 330 | 0.0364 | -38 | c.472 others(55): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80889785 | CCAGCAGG others(31): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0008a0001c0044 | a0001c0008t0081a0001c0044t0045 | a0001c0008t0081g0019a0001c0044t0045g0080 | 2 | 196 | 0.0102 | -38 | c.198 others(57): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80889822 | CGCAGCAG others(31): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0069 | a0001c0007t0069g0128 | 1 | 196 | 0.0051 | -38 | c.198 others(57): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80889937 | GCAGCAGG others(31): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0009a0001c0036a0001c0053others(4): Show | a0001c0009t0028a0001c0036t0004a0001c0053t0007others(4): Show | a0001c0009t0028g0113a0001c0036t0004g0167a0001c0036t0004g0168others(5): Show | 8 | 196 | 0.0408 | -38 | c.198 others(57): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 17/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPUSD4_chr11_126197096_126216650 | 126203348 | CGCTCCCA others(31): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0006 | a0006c0008 | a0006c0008t0013 | a0006c0008t0013g0073 | 1 | 416 | 0.0024 | -38 | c.*32 others(45): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 7/7 | 32 | chr11 | TogoVar | |||||
RSF1_chr11_77655009_77825722 | 77824905 | GCCTTTTA others(31): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0212 | 1 | 352 | 0.0028 | -38 | c.-42 others(49): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4184 | chr11 | TogoVar | ||||||
RSPH1_chr21_42467486_42501224 | 42474763 | ACAGCGCT others(31): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0145a0001c0001t0001g0146others(6): Show | 10 | 408 | 0.0245 | -38 | c.877 others(55): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 8/8 | chr21 | TogoVar | ||||||
RSPH1_chr21_42467486_42501224 | 42481683 | AAAAGGAT others(31): Show |
A | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 408 | 0.0025 | -38 | c.573 others(53): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 6/8 | chr21 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16645928 | ACACATAT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0120a0001c0001t0001g0138a0001c0001t0002g0026others(25): Show | 28 | 190 | 0.1474 | -38 | c.731 others(57): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59749270 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02040.hp1 HG02074.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0044others(11): Show | 14 | 172 | 0.0814 | -38 | c.242 others(55): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35562114 | CTGTCACA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 322 | 0.0031 | -38 | c.*73 others(47): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 220 | chr9 | TogoVar | ||||||
RWDD2B_chr21_28999384_29024349 | 29015054 | TTTTACTT others(31): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 438 | 0.0023 | -38 | c.67+ others(53): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237350582 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0018 | a0001c0018t0032 | a0001c0018t0032g0041 | 1 | 100 | 0.0100 | -38 | c.274 others(55): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237380359 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 100 | 0.0100 | -38 | c.576 others(55): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 8/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RYR2_chr1_237037184_237838988 | 237565131 | CTTTCTTT others(31): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0028 | 1 | 100 | 0.0100 | -38 | c.321 others(57): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
S100Z_chr5_76845014_76926650 | 76906968 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02055.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003 | a0001c0001t0003g0036a0001c0001t0003g0038a0001c0001t0003g0039others(12): Show | 15 | 348 | 0.0431 | -38 | c.*3- others(55): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
S1PR4_chr19_3173769_3185332 | 3174048 | GCCTGTGC others(31): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02132.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 418 | 0.0072 | -38 | c.-47 others(49): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4720 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3174403 | TCTCATGG others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02486.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000others(2): Show | 22 | 418 | 0.0526 | -38 | c.-43 others(49): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4365 | chr19 | TogoVar |