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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF10_chr12_120529356_120582588 | 120553038 | GTTTTTTT others(38): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0008a0003c0006t0001 | a0001c0001t0008g0061 a0003c0006t0001g0062 |
2 | 62 | 0.0323 | -45 | c.554 others(60): Show |
RNF10 | ENSG00000022840.17 | transcript | ENST00000325954.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 141000042 | AAGAAGAA others(38): Show |
A | intron_variant | MODIFIER | HG03471.hp2 HG04204.hp2 NA18960.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0025a0001c0001t0080a0001c0001t0086others(1): Show | a0001c0001t0025g0110 a0001c0001t0080g0034 a0001c0001t0086g0063 others(1): Show |
4 | 181 | 0.0221 | -45 | c.485 others(64): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF212B_chr14_23232936_23278477 | 23277764 | TTTAGAAG others(38): Show |
T | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 366 | 0.0027 | -45 | c.*48 others(56): Show |
RNF212B | ENSG00000215277.9 | transcript | ENST00000430154.7 | protein_coding | 4288 | chr14 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314733 | ATGGTGGT others(38): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0013 | a0008c0013t0017 | a0008c0013t0017g0250 | 1 | 243 | 0.0041 | -45 | c.281 others(64): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315393 | GTGGTGGT others(38): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG06807.hp1 others(1): Show |
a0011 | a0011c0036a0011c0037 | a0011c0036t0012a0011c0036t0033a0011c0037t0012 | a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 others(1): Show |
4 | 286 | 0.0140 | -45 | c.281 others(64): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RNF44_chr5_176521712_176542402 | 176530321 | GCAAGTCA others(38): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 442 | 0.0068 | -45 | c.802 others(60): Show |
RNF44 | ENSG00000146083.12 | transcript | ENST00000274811.9 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60597548 | CAACATAT others(38): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0056 | a0001c0001t0049g0003 a0001c0002t0056g0110 |
2 | 115 | 0.0174 | -45 | c.197 others(64): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
RP1L1_chr8_10601349_10660143 | 10624635 | TTTGCAAG others(38): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02809.hp2 others(4): Show |
a0018a0076a0084others(3): Show | a0018c0055a0076c0170a0084c0087others(3): Show | a0018c0055t0005a0076c0170t0005a0084c0087t0002others(3): Show | a0018c0055t0005g0369 a0018c0055t0005g0370 a0076c0170t0005g0368 others(4): Show |
7 | 412 | 0.0170 | -45 | c.-19 others(62): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 220905 | ACAGCTCT others(38): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01515.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0013 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0005g0017 a0001c0001t0005g0100 a0001c0001t0008g0113 others(6): Show |
9 | 83 | 0.1084 | -45 | c.614 others(62): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221367 | GCTCCACT others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0085 others(5): Show |
8 | 131 | 0.0611 | -45 | c.614 others(62): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPL3L_chr16_1938974_1959689 | 1949844 | TAGGTATG others(38): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 412 | 0.0024 | -45 | c.501 others(60): Show |
RPL3L | ENSG00000140986.8 | transcript | ENST00000268661.8 | protein_coding | 4/9 | chr16 | TogoVar | |||||||
RPS6KB1_chr17_59888121_59955574 | 59909226 | CTTTTTTT others(38): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 3 | 0.3333 | -45 | c.142 others(62): Show |
RPS6KB1 | ENSG00000108443.14 | transcript | ENST00000225577.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80581487 | GACCGCAC others(38): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(52): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(42): Show | a0001c0002t0007a0001c0002t0017a0001c0003t0001others(48): Show | a0001c0002t0007g0136 a0001c0002t0017g0118 a0001c0003t0001g0156 others(52): Show |
55 | 194 | 0.2835 | -45 | c.162 others(64): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80581532 | TACCGCAC others(38): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0015a0001c0002t0015a0001c0002t0039others(31): Show | a0001c0001t0015g0088 a0001c0002t0015g0089 a0001c0002t0039g0091 others(32): Show |
35 | 194 | 0.1804 | -45 | c.162 others(64): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80581625 | CGCACATC others(38): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0096 | a0001c0096t0072 | a0001c0096t0072g0171 | 1 | 194 | 0.0052 | -45 | c.162 others(64): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80923857 | CCCCTCTG others(38): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02976.hp1 others(8): Show |
a0001 | a0001c0005a0001c0016a0001c0029others(3): Show | a0001c0005t0026a0001c0005t0067a0001c0005t0074others(7): Show | a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0067g0111 others(8): Show |
11 | 194 | 0.0567 | -45 | c.280 others(62): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45485132 | CTGCCAAA others(38): Show |
C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0058 | 1 | 176 | 0.0057 | -45 | c.686 others(62): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38499431 | ATCCTGGG others(38): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01070.hp1 others(33): Show |
a0001a0002a0005others(9): Show | a0001c0014a0001c0019a0001c0022others(22): Show | a0001c0014t0001a0001c0019t0002a0001c0022t0001others(22): Show | a0001c0014t0001g0005 a0001c0014t0001g0020 a0001c0014t0001g0021 others(33): Show |
36 | 216 | 0.1667 | -45 | c.702 others(62): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 43/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237117671 | CCTTCTCT others(38): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0034 | a0004c0034t0013 | a0004c0034t0013g0043 | 1 | 9 | 0.1111 | -45 | c.48+ others(62): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237591089 | TCTCCTCC others(38): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(30): Show | a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0088 others(32): Show |
35 | 99 | 0.3535 | -45 | c.416 others(62): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 31/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237591137 | CCTCCTCC others(38): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01081.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0007a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0001t0007g0082 a0001c0002t0002g0022 a0001c0002t0003g0008 others(10): Show |
13 | 99 | 0.1313 | -45 | c.416 others(62): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 31/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237591159 | TTCCCCCT others(38): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0035others(29): Show | a0001c0001t0003g0023 a0001c0001t0004g0036 a0001c0001t0035g0026 others(29): Show |
32 | 58 | 0.5517 | -45 | c.416 others(62): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 31/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAA4_chr11_18226355_18241802 | 18234554 | TTACGTGT others(38): Show |
T | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 416 | 0.0024 | -45 | c.91+ others(60): Show |
SAA4 | ENSG00000148965.10 | transcript | ENST00000278222.7 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
SCAP_chr3_47408681_47480941 | 47423029 | TCTAAGGC others(38): Show |
T | intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0251 | 1 | 302 | 0.0033 | -45 | c.115 others(62): Show |
SCAP | ENSG00000114650.21 | transcript | ENST00000265565.10 | protein_coding | 9/22 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38889802 | AAAAATAA others(38): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0011 | a0001c0011t0011 | a0001c0011t0011g0256 | 1 | 62 | 0.0161 | -45 | c.283 others(64): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 19/29 | chr3 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166304193 | TTGGAGTT others(38): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18973.hp1 | a0026 | a0026c0042 | a0026c0042t0001 | a0026c0042t0001g0226 | 1 | 294 | 0.0034 | -45 | c.688 others(55): Show |
p.Gly others(5): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 6/27 | 688/5967 | 230/1988 | chr2 | TogoVar | ||||
SCNN1B_chr16_23297302_23386294 | 23382463 | CCTTGGTC others(38): Show |
C | downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 304 | 0.0033 | -45 | c.*16 others(56): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1170 | chr16 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339819 | TCTATCCC others(38): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0216 | 1 | 278 | 0.0036 | -45 | c.89- others(58): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339845 | GCCCTCCC others(38): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG02155.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0003a0002c0005t0022 | a0001c0003t0003g0227 a0002c0005t0022g0161 |
2 | 264 | 0.0076 | -45 | c.89- others(58): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 238409 | CTGCAAAA others(38): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 264 | 0.0038 | -45 | c.143 others(64): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73617159 | CGCAGAGA others(38): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0093 | a0001c0093t0007 | a0001c0093t0007g0058 | 1 | 202 | 0.0050 | -45 | c.64+ others(62): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25808297 | CGCCTGGG others(38): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(355): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
358 | 372 | 0.9624 | -45 | c.538 others(60): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 4/12 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEPHS1_chr10_13312428_13353293 | 13325901 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0180 |
2 | 376 | 0.0053 | -45 | c.751 others(62): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325920 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 |
2 | 376 | 0.0053 | -45 | c.751 others(62): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896853 | TAAGGGAA others(38): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02647.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(12): Show |
15 | 116 | 0.1293 | -45 | c.101 others(66): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERPINB12_chr18_63537369_63574329 | 63567888 | ATGCCCCT others(38): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(48): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0002t0014a0002c0002t0037others(3): Show | a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0037 others(19): Show |
51 | 400 | 0.1275 | -45 | c.*91 others(54): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 8/8 | 919 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SERPINF2_chr17_1737871_1760265 | 1738865 | GGCCTGAT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG02451.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0003g0001 a0001c0001t0003g0041 others(3): Show |
13 | 327 | 0.0398 | -45 | c.-40 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 4005 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739180 | AGCCTGAT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01167.hp1 others(29): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0003c0006others(3): Show | a0001c0001t0016a0003c0003t0001a0003c0003t0004others(5): Show | a0001c0001t0016g0112 a0003c0003t0001g0004 a0003c0003t0001g0007 others(19): Show |
32 | 434 | 0.0737 | -45 | c.-37 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3690 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739493 | GGCCTGAT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 2 | 412 | 0.0049 | -45 | c.-34 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3377 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739808 | GGCCTGAT others(38): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 2 | 301 | 0.0066 | -45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3062 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739898 | AGCCTGAT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0095 | 1 | 413 | 0.0024 | -45 | c.-30 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2972 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740348 | AGCCTGAT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02970.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0021 a0001c0001t0005g0021 |
3 | 327 | 0.0092 | -45 | c.-25 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2522 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740663 | AGCCTGAT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 2 | 443 | 0.0045 | -45 | c.-22 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2207 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740957 | AGGACAGT others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 441 | 0.0023 | -45 | c.-19 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1913 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741417 | GGGTGGGA others(38): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0010 | a0010c0009 | a0010c0009t0003 | a0010c0009t0003g0021 | 1 | 444 | 0.0023 | -45 | c.-14 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1453 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741974 | GCAGGGAG others(38): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(115): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0122 a0001c0001t0003g0001 others(55): Show |
118 | 444 | 0.2658 | -45 | c.-93 others(54): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 896 | chr17 | TogoVar | |||||||
SESTD1_chr2_179096678_179269832 | 179185655 | GCATATAC others(38): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0123 a0001c0001t0012g0124 a0001c0001t0012g0125 |
3 | 272 | 0.0110 | -45 | c.56- others(60): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31596956 | GCGCACAC others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0020a0001c0035others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0055 a0001c0001t0001g0116 a0001c0001t0001g0130 others(303): Show |
306 | 316 | 0.9684 | -45 | c.154 others(64): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31597011 | GGTACCCG others(38): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 317 | 0.0032 | -45 | c.154 others(64): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFTPB_chr2_85652314_85673199 | 85667366 | TCCATCCA others(38): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 a0001c0001t0002g0104 |
2 | 424 | 0.0047 | -45 | c.196 others(60): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 2/10 | chr2 | TogoVar |