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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRD_chr9_8309246_10618002 | 9833575 | TTATTAGG others(77): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0014a0001c0001t0024a0001c0002t0009others(6): Show | a0001c0001t0014g0008 a0001c0001t0024g0032 a0001c0002t0009g0017 others(6): Show |
9 | 34 | 0.2647 | -84 | c.-36 others(105): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 5/45 | chr9 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972285 | AGGGGAGG others(77): Show |
A | intron_variant | MODIFIER | NA18970.hp2 NA18972.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0019 | a0001c0002t0018g0308 a0001c0002t0019g0323 |
2 | 334 | 0.0060 | -84 | c.150 others(103): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82696554 | AAGCCCTG others(77): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 338 | 0.0030 | -84 | c.142 others(101): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044426 | CGCCCCCC others(77): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0007 | 1 | 67 | 0.0149 | -84 | c.278 others(101): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7504719 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0029 | 1 | 68 | 0.0147 | -84 | c.28- others(101): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7504719 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0002 | 1 | 234 | 0.0043 | -84 | c.88- others(101): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBM20_chr10_110639336_110844468 | 110767083 | ACCCCCCC others(77): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03927.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0018 a0001c0003t0004g0004 |
2 | 268 | 0.0075 | -84 | c.192 others(103): Show |
RBM20 | ENSG00000203867.8 | transcript | ENST00000369519.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RETNLB_chr3_108750638_108762410 | 108759539 | ATACATAT others(77): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 NA19030.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 3 | 452 | 0.0066 | -84 | c.-24 others(95): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2130 | chr3 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111422596 | ACATATAT others(77): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 NA18522.hp1 |
a0002 | a0002c0009a0002c0025 | a0002c0009t0003a0002c0025t0001 | a0002c0009t0003g0110 a0002c0009t0003g0264 a0002c0025t0001g0109 |
3 | 288 | 0.0104 | -84 | c.140 others(101): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | |||||||
RGL3_chr19_11389060_11424314 | 11414335 | ATATACCT others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0156 | 1 | 402 | 0.0025 | -84 | c.637 others(101): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
RHCG_chr15_89466407_89501583 | 89474900 | TCCTGCCT others(77): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02257.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show |
23 | 360 | 0.0639 | -84 | c.131 others(103): Show |
RHCG | ENSG00000140519.14 | transcript | ENST00000268122.9 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646118 | ACCACCTG others(77): Show |
A | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 180 | 0.0056 | -84 | c.-35 others(105): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646171 | CTGCCTCT others(77): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0043 | 1 | 180 | 0.0056 | -84 | c.-35 others(105): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RNASET2_chr6_166917113_166961550 | 166925387 | CACTGCCT others(77): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG03239.hp1 HG03491.hp1 others(13): Show |
a0001a0008 | a0001c0002a0008c0013 | a0001c0002t0031a0001c0002t0089a0001c0002t0090others(12): Show | a0001c0002t0031g0007 a0001c0002t0089g0117 a0001c0002t0090g0131 others(12): Show |
16 | 346 | 0.0462 | -84 | c.*41 others(95): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 9/9 | 4117 | chr6 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314628 | GTACTGGA others(77): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0021 | a0021c0022 | a0021c0022t0012 | a0021c0022t0012g0170 | 1 | 292 | 0.0034 | -84 | c.281 others(103): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314901 | GAGGTACT others(77): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG03831.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0028a0002c0002others(4): Show | a0001c0006t0011a0001c0028t0007a0001c0028t0011others(8): Show | a0001c0006t0011g0051 a0001c0028t0007g0039 a0001c0028t0011g0041 others(9): Show |
12 | 292 | 0.0411 | -84 | c.281 others(103): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | chr17 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80315238 | AGGTGATG others(77): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0076 | a0001c0076t0011 | a0001c0076t0011g0216 | 1 | 292 | 0.0034 | -84 | c.281 others(103): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597537 | ACACACAC others(77): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0008a0001c0001t0037a0001c0001t0046others(3): Show | a0001c0001t0008g0033 a0001c0001t0037g0105 a0001c0001t0046g0086 others(4): Show |
7 | 118 | 0.0593 | -84 | c.197 others(103): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272938 | GAGAGACC others(77): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 133 | 0.0075 | -84 | c.438 others(101): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272967 | TGAGACCC others(77): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02074.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0033others(2): Show | a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0003g0098 others(3): Show |
6 | 133 | 0.0451 | -84 | c.438 others(101): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273411 | AGGGTGAG others(77): Show |
A | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0063 | 1 | 133 | 0.0075 | -84 | c.438 others(101): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80841215 | CGCACGGC others(77): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG02129.hp2 others(3): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0060others(2): Show | a0001c0002t0015a0001c0002t0039a0001c0004t0001others(3): Show | a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0004t0001g0152 others(3): Show |
6 | 196 | 0.0306 | -84 | c.121 others(103): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80841230 | TCTCACCG others(77): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0125 | 1 | 196 | 0.0051 | -84 | c.121 others(103): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RSU1_chr10_16585611_16822424 | 16645908 | ATGTATAT others(77): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0024a0001c0001t0036others(3): Show | a0001c0001t0006g0114 a0001c0001t0024g0116 a0001c0001t0036g0002 others(3): Show |
6 | 190 | 0.0316 | -84 | c.731 others(103): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 933965 | CCGTTACA others(77): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03486.hp1 |
a0004a0005 | a0004c0008a0005c0037 | a0004c0008t0002a0005c0037t0021 | a0004c0008t0002g0271 a0005c0037t0021g0267 |
2 | 434 | 0.0046 | -84 | c.843 others(101): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934161 | GCGTTACA others(77): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0359 | 1 | 434 | 0.0023 | -84 | c.843 others(101): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934217 | CCGTTACA others(77): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp2 |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0024 | 2 | 434 | 0.0046 | -84 | c.843 others(101): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934465 | GGCTGCGT others(77): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0262 | 1 | 434 | 0.0023 | -84 | c.843 others(101): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934749 | GCGTTACA others(77): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0014 | a0014c0026 | a0014c0026t0004 | a0014c0026t0004g0232 | 1 | 434 | 0.0023 | -84 | c.843 others(100): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934792 | AGGGGAGG others(77): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0271 | 1 | 434 | 0.0023 | -84 | c.843 others(99): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107783033 | AGCTGGTC others(77): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0248 | 1 | 250 | 0.0040 | -84 | c.-59 others(103): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107783365 | GAGGAGCT others(77): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0013a0001c0008t0001 | a0001c0001t0013g0068 a0001c0008t0001g0069 |
2 | 250 | 0.0080 | -84 | c.-59 others(103): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107783481 | TGCTGGTC others(77): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp2 HG01433.hp1 others(2): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0009a0002c0004t0014a0002c0006t0009others(1): Show | a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 others(2): Show |
5 | 250 | 0.0200 | -84 | c.-59 others(103): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23379016 | TCCTCCAT others(77): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 306 | 0.0033 | -84 | c.146 others(101): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEPTIN5_chr22_19709503_19728319 | 19727618 | GCGCTGTG others(77): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03471.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0005g0009 |
3 | 384 | 0.0078 | -84 | c.*51 others(95): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 4300 | chr22 | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132770063 | GTATATAT others(77): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0080 others(18): Show |
27 | 326 | 0.0828 | -84 | c.31- others(99): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 12970360 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0103 | 1 | 214 | 0.0047 | -84 | c.691 others(103): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | CCCCTTCC others(77): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01934.hp1 HG02040.hp1 others(6): Show |
a0002a0003a0004 | a0002c0002a0002c0003a0003c0010others(1): Show | a0002c0002t0001a0002c0002t0044a0002c0003t0001others(3): Show | a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0151 others(6): Show |
9 | 175 | 0.0514 | -84 | c.295 others(103): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2280674 | CGGCGATC others(77): Show |
C | intron_variant | MODIFIER | HG01074.hp2 NA18947.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0031others(1): Show | a0001c0001t0001g0278 a0001c0001t0007g0281 a0001c0001t0031g0321 others(1): Show |
4 | 330 | 0.0121 | -84 | c.970 others(103): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280717 | CGGCGATC others(77): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0065 a0001c0001t0009g0095 |
2 | 330 | 0.0061 | -84 | c.970 others(103): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281465 | GAGAGGAC others(77): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 330 | 0.0030 | -84 | c.970 others(103): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56878745 | CCAAGGGA others(77): Show |
C | intron_variant | MODIFIER | NA19062.hp2 | a0020 | a0020c0035 | a0020c0035t0001 | a0020c0035t0001g0181 | 1 | 420 | 0.0024 | -84 | c.118 others(101): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | GAGCCCCC others(77): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 118 | 0.0085 | -84 | c.224 others(101): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC22A1_chr6_160116815_160163718 | 160125471 | GGGGATGT others(77): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02027.hp1 others(33): Show |
a0001a0005a0007others(1): Show | a0001c0002a0005c0005a0007c0027others(1): Show | a0001c0002t0001a0005c0005t0001a0007c0027t0001others(1): Show | a0001c0002t0001g0319 a0005c0005t0001g0005 a0005c0005t0001g0021 others(25): Show |
36 | 416 | 0.0865 | -84 | c.411 others(101): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC2A13_chr12_39750025_40111081 | 39895616 | ATATACGT others(77): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 214 | 0.0047 | -84 | c.103 others(105): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
SLC35F4_chr14_57558920_57871092 | 57821125 | AGCCAAAG others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02080.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058 a0001c0001t0001g0173 a0001c0001t0001g0174 others(18): Show |
21 | 218 | 0.0963 | -84 | c.103 others(103): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | |||||||
SLK_chr10_103962140_104034233 | 103974652 | GGCCTTTT others(77): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 376 | 0.0027 | -84 | c.150 others(101): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2661479 | AAATCTGT others(77): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0241 | 1 | 340 | 0.0029 | -84 | c.187 others(101): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168268 | GAAAGAAA others(77): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG03654.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0000 a0001c0002t0008g0000 |
5 | 397 | 0.0126 | -84 | c.-30 others(95): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2925 | chr12 | TogoVar | |||||||
SMPDL3B_chr1_27930000_27964152 | 27947479 | GGCCATTA others(77): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02280.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0222 |
5 | 432 | 0.0116 | -84 | c.276 others(101): Show |
SMPDL3B | ENSG00000130768.15 | transcript | ENST00000373894.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |