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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGS7_chr1_240770514_241362205 | 241259667 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 23 | 0.0435 | 51 | c.78+ others(68): Show |
RGS7 | ENSG00000182901.18 | transcript | ENST00000440928.6 | protein_coding | 2/18 | chr1 | TogoVar | |||||||
RHBDF1_chr16_53059_77631 | 72598 | C | CGCCCGCC others(44): Show |
5_prime_UTR_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 368 | 0.0027 | 51 | c.-11 others(60): Show |
RHBDF1 | ENSG00000007384.15 | transcript | ENST00000262316.10 | protein_coding | 1/18 | 7584 | chr16 | TogoVar | ||||||
RICTOR_chr5_38932920_39079399 | 38990704 | G | GATATATA others(44): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0026 | 1 | 306 | 0.0033 | 51 | c.583 others(66): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 7/37 | chr5 | TogoVar | |||||||
RICTOR_chr5_38932920_39079399 | 38990708 | T | TATATATC others(44): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0025 |
3 | 272 | 0.0110 | 51 | c.583 others(66): Show |
RICTOR | ENSG00000164327.14 | transcript | ENST00000357387.8 | protein_coding | 7/37 | chr5 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130574969 | G | GCCACCCC others(44): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0170 | 1 | 158 | 0.0063 | 51 | c.-21 others(72): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72356574 | C | CAGTAGTA others(44): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0018 | a0002c0018t0018 | a0002c0018t0018g0105 | 1 | 138 | 0.0072 | 51 | c.436 others(72): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPOR2_chr6_24799284_24940960 | 24927097 | C | CATCACTA others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20129.hp1 |
a0001a0020 | a0001c0001a0020c0023 | a0001c0001t0012a0020c0023t0018 | a0001c0001t0012g0108 a0020c0023t0018g0222 |
2 | 230 | 0.0087 | 51 | c.61+ others(66): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
RIT2_chr18_42738227_43120685 | 42743915 | C | CGCCTTAA others(44): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 238 | 0.0042 | 51 | c.427 others(66): Show |
RIT2 | ENSG00000152214.14 | transcript | ENST00000326695.10 | protein_coding | 4/4 | chr18 | TogoVar | |||||||
RLF_chr1_40156387_40245921 | 40200919 | C | CACACACA others(44): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0328 | 1 | 320 | 0.0031 | 51 | c.608 others(68): Show |
RLF | ENSG00000117000.9 | transcript | ENST00000372771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF141_chr11_10506673_10546187 | 10539701 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 137 | 0.0073 | 51 | c.-48 others(68): Show |
RNF141 | ENSG00000110315.7 | transcript | ENST00000265981.7 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RNF150_chr4_140854807_141138469 | 140935032 | A | AATATATA others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0030 | 1 | 178 | 0.0056 | 51 | c.891 others(68): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
RNF152_chr18_61803067_61898007 | 61844077 | G | GGAAAGAA others(44): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0205 | 1 | 121 | 0.0083 | 51 | c.-13 others(72): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80260636 | G | GGCGGCGG others(44): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0075 | a0075c0048 | a0075c0048t0051 | a0075c0048t0051g0245 | 1 | 262 | 0.0038 | 51 | c.-37 others(60): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 215 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80313758 | G | GTGGTGGA others(44): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0114 | 1 | 285 | 0.0035 | 51 | c.281 others(68): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNGTT_chr6_88604897_88968618 | 88948003 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 186 | 0.0054 | 51 | c.65- others(66): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88948053 | T | TGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 177 | 0.0056 | 51 | c.65- others(66): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 1/15 | chr6 | TogoVar | |||||||
RNPC3_chr1_103520699_103560239 | 103525497 | G | GCCGCCGT others(44): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(21): Show |
38 | 118 | 0.3220 | 51 | c.-57 others(60): Show |
RNPC3 | ENSG00000185946.16 | transcript | ENST00000423855.7 | protein_coding | 201 | chr1 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251164 | C | CCACCACC others(44): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 371 | 0.0027 | 51 | c.*44 others(62): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3149 | chr10 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242266 | T | TTACCTTC others(44): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01255.hp1 others(12): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0079 others(12): Show |
15 | 123 | 0.1220 | 51 | c.613 others(68): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242368 | C | CTACCTTC others(44): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 119 | 0.0084 | 51 | c.613 others(68): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242919 | C | CCTTCCTC others(44): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0016 | 1 | 102 | 0.0098 | 51 | c.613 others(68): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 243091 | C | CCCTTCCT others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0036 | a0001c0001t0016g0081 a0001c0003t0036g0064 |
2 | 132 | 0.0152 | 51 | c.613 others(68): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112791864 | A | AGAGAGAG others(44): Show |
5_prime_UTR_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0199 | a0001c0001t0199g0141 | 1 | 258 | 0.0039 | 51 | c.-28 others(60): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36454 | chr12 | TogoVar | ||||||
RPRD1A_chr18_35984824_36072559 | 36044742 | C | CATGAGGA others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 a0001c0001t0007g0057 a0001c0001t0007g0058 |
3 | 316 | 0.0095 | 51 | c.152 others(70): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665488 | C | CTTTCCTT others(44): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0032 | a0001c0032t0033 | a0001c0032t0033g0039 | 1 | 194 | 0.0052 | 51 | c.348 others(70): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80748419 | G | GGAAGCCT others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0008a0001c0009a0001c0065others(1): Show | a0001c0008t0036a0001c0009t0001a0001c0009t0012others(2): Show | a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0106 others(2): Show |
5 | 122 | 0.0410 | 51 | c.655 others(68): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80748906 | G | GGAGGCCG others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 HG03195.hp2 |
a0001 | a0001c0008a0001c0009a0001c0066 | a0001c0008t0036a0001c0009t0001a0001c0066t0058 | a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0066t0058g0126 |
3 | 194 | 0.0155 | 51 | c.655 others(68): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4138067 | C | CGGGGGGC others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0135 |
2 | 78 | 0.0256 | 51 | c.219 others(68): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4138076 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG01943.hp1 others(29): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0175 a0001c0001t0001g0279 a0001c0001t0001g0280 others(29): Show |
32 | 117 | 0.2735 | 51 | c.219 others(68): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158117910 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 274 | 0.0036 | 51 | c.-2- others(66): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59750232 | A | ATATAATA others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0084 others(4): Show |
7 | 166 | 0.0422 | 51 | c.242 others(68): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750527 | T | TATATAAT others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0167 |
3 | 170 | 0.0176 | 51 | c.242 others(68): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866265 | G | GGCTGAGC others(44): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0009 | a0009c0011 | a0009c0011t0003 | a0009c0011t0003g0001 | 1 | 255 | 0.0039 | 51 | c.-34 others(62): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3463 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866310 | G | GCGGGATG others(44): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0032 | a0003c0003t0003g0001 a0003c0003t0003g0010 a0003c0003t0003g0019 others(1): Show |
9 | 281 | 0.0320 | 51 | c.-34 others(62): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3418 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866310 | G | GCGGGATG others(44): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02258.hp2 |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0003a0008c0008t0006 | a0003c0003t0003g0018 a0008c0008t0006g0011 |
2 | 274 | 0.0073 | 51 | c.-34 others(62): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3418 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866310 | G | GGGGGGAT others(44): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG02738.hp2 HG03579.hp2 |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0003a0008c0008t0006 | a0003c0003t0003g0001 a0008c0008t0006g0011 |
3 | 275 | 0.0109 | 51 | c.-34 others(62): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3418 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241878107 | G | GCCCCCCC others(44): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 NA18956.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0030 | a0002c0002t0001g0002 a0002c0002t0030g0002 |
2 | 275 | 0.0073 | 51 | c.*48 others(62): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4285 | chr2 | TogoVar | |||||||
RUBCN_chr3_197663867_197741904 | 197731626 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 183 | 0.0055 | 51 | c.65+ others(66): Show |
RUBCN | ENSG00000145016.17 | transcript | ENST00000296343.10 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626198 | A | ATTGTCAT others(44): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0108 | 1 | 79 | 0.0127 | 51 | c.-26 others(62): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2199 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626246 | A | ATTGTCAT others(44): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 58 | 0.0172 | 51 | c.-25 others(62): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2151 | chr7 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31759375 | G | GAGAAAGA others(44): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 34 | 0.0294 | 51 | c.241 others(67): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP3_chr5_33931386_33943918 | 33935020 | T | TTTTCTTT others(44): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0000 | 1 | 99 | 0.0101 | 51 | c.-17 others(62): Show |
RXFP3 | ENSG00000182631.7 | transcript | ENST00000330120.5 | protein_coding | 1365 | chr5 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237237945 | C | CCCTTTCC others(44): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG02293.hp1 |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0003a0001c0003t0001a0003c0006t0004 | a0001c0001t0003g0088 a0001c0003t0001g0078 a0003c0006t0004g0087 |
3 | 11 | 0.2727 | 51 | c.49- others(68): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237473442 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18522.hp2 |
a0001 | a0001c0037a0001c0048 | a0001c0037t0012a0001c0048t0001 | a0001c0037t0012g0037 a0001c0048t0001g0007 |
2 | 69 | 0.0290 | 51 | c.170 others(70): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 17/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
S1PR1_chr1_101232019_101246518 | 101244310 | C | CAATAATA others(44): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 454 | 0.0022 | 51 | c.*41 others(62): Show |
S1PR1 | ENSG00000170989.10 | transcript | ENST00000305352.7 | protein_coding | 2793 | chr1 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54724007 | T | TGGAAGGA others(44): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0226 | 1 | 62 | 0.0161 | 51 | c.716 others(70): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668454 | T | TCCCTCAC others(44): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0040 | a0003c0040t0002 | a0003c0040t0002g0123 | 1 | 193 | 0.0052 | 51 | c.249 others(70): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669171 | T | TCCCCTCA others(44): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03579.hp2 |
a0001 | a0001c0030a0001c0051 | a0001c0030t0001a0001c0051t0001 | a0001c0030t0001g0229 a0001c0051t0001g0033 |
2 | 248 | 0.0081 | 51 | c.249 others(70): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0160 | 1 | 12 | 0.0833 | 51 | c.56- others(66): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460804 | C | CTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 264 | 0.0038 | 51 | c.852 others(68): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar |