| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRRC74B_chr22_21040946_21069168 | 21062766 | GCTTATAA others(141): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0002 | 1 | 454 | 0.0022 | -148 | c.*10 others(11): Show |
LRRC74B | ENSG00000187905.11 | transcript | ENST00000442047.3 | protein_coding | 10/10 | 2240 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MAP4K4_chr2_101692707_101899690 | 101785657 | TTCTTCTT others(141): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(109): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(109): Show | 112 | 310 | 0.3613 | -148 | c.124 others(17): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MBD3L5_chr19_7025578_7038011 | 7035766 | ATATATAT others(141): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02071.hp1 HG03540.hp1 others(1): Show |
a0001a0009a0013 | a0001c0001a0001c0014a0009c0012others(1): Show | a0001c0001t0002a0001c0014t0002a0009c0012t0002others(1): Show | a0001c0001t0002g0014a0001c0014t0002g0040a0009c0012t0002g0009others(1): Show | 4 | 249 | 0.0161 | -148 | c.*28 others(11): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2756 | chr19 | TogoVar | |||||||
| MBOAT7_chr19_54168415_54194580 | 54172279 | TCCTCCTC others(141): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02572.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0204a0001c0001t0001g0205others(8): Show | 12 | 373 | 0.0322 | -148 | c.*16 others(11): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 1135 | chr19 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237547290 | TGCAGTGC others(141): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02723.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0008a0003c0003others(6): Show | a0001c0001t0003a0002c0008t0002a0003c0003t0002others(7): Show | a0001c0001t0003g0131a0002c0008t0002g0092a0002c0008t0002g0093others(10): Show | 13 | 286 | 0.0455 | -148 | c.161 others(17): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237547563 | CAGGTGGA others(141): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02300.hp1 HG02647.hp2 others(4): Show |
a0002a0006a0013others(1): Show | a0002c0008a0006c0006a0013c0017others(1): Show | a0002c0008t0003a0006c0006t0003a0013c0017t0003others(1): Show | a0002c0008t0003g0024a0006c0006t0003g0117a0006c0006t0003g0118others(4): Show | 7 | 286 | 0.0245 | -148 | c.161 others(18): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MTM1_chrX_150563621_150678143 | 150583346 | TAATTATA others(141): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 277 | 0.0036 | -148 | c.-10 others(17): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MYBPC2_chr19_50427892_50471321 | 50439469 | CATCCATG others(141): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 396 | 0.0025 | -148 | c.573 others(17): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NEK1_chr4_169387809_169617583 | 169467689 | ATCTGGAT others(141): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0117 | 1 | 260 | 0.0039 | -148 | c.243 others(19): Show |
NEK1 | ENSG00000137601.18 | transcript | ENST00000507142.6 | protein_coding | 26/35 | chr4 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805521 | TCCCTCCC others(141): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0152 | 1 | 319 | 0.0031 | -148 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3671 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805655 | GACCTCCG others(141): Show |
G | upstream_gene_variant | MODIFIER | NA18952.hp1 NA18971.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0041 | 3 | 319 | 0.0094 | -148 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3537 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806518 | GACCTCCG others(141): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02109.hp1 NA19067.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0003g0043a0001c0004t0001g0110 | 3 | 319 | 0.0094 | -148 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2674 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806631 | GACCTCCG others(141): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01346.hp2 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0003g0194a0001c0002t0001g0085others(1): Show | 4 | 319 | 0.0125 | -148 | c.-26 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2561 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806872 | CCTTCCCT others(141): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 319 | 0.0031 | -148 | c.-24 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2320 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806896 | GACCTCCG others(141): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 319 | 0.0031 | -148 | c.-23 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2296 | chr2 | TogoVar | |||||||
| NLRC5_chr16_56984557_57088520 | 57070897 | AGTGAGTG others(141): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(41): Show |
a0004a0006a0007others(8): Show | a0004c0038a0006c0009a0006c0063others(18): Show | a0004c0038t0001a0006c0009t0001a0006c0009t0002others(24): Show | a0004c0038t0001g0393a0006c0009t0001g0087a0006c0009t0001g0100others(41): Show | 44 | 424 | 0.1038 | -148 | c.466 others(17): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 38/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NXNL1_chr19_17450425_17465926 | 17463788 | GAAGAAGA others(141): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02630.hp1 HG02895.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0006t0001a0003c0003t0003others(1): Show | a0001c0001t0001g0003a0001c0006t0001g0024a0003c0003t0003g0008others(2): Show | 7 | 408 | 0.0172 | -148 | c.-30 others(11): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2863 | chr19 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 894052 | TCCCTGGA others(141): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057a0001c0001t0003g0061 | 2 | 242 | 0.0083 | -148 | c.361 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OPCML_chr11_132409981_133537501 | 133458180 | GTATATAT others(141): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0029 | a0001c0001t0008g0004a0001c0001t0029g0058 | 2 | 68 | 0.0294 | -148 | c.61+ others(17): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
| OTUD7A_chr15_31470398_31875673 | 31510711 | CATATGTA others(141): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0014 | a0002c0014t0094 | a0002c0014t0094g0095 | 1 | 244 | 0.0041 | -148 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
| PARD3B_chr2_204540475_205625162 | 204998382 | GTGTGTGT others(141): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA19240.hp1 |
a0003a0004 | a0003c0005a0004c0026 | a0003c0005t0001a0004c0026t0004 | a0003c0005t0001g0025a0004c0026t0004g0041 | 2 | 54 | 0.0370 | -148 | c.394 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44113608 | CTAACTAA others(141): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 332 | 0.0030 | -148 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44115265 | CTAAGTAA others(141): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0042a0001c0002t0021 | a0001c0001t0009g0086a0001c0001t0009g0193a0001c0001t0042g0186others(1): Show | 4 | 332 | 0.0121 | -148 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44115450 | CTAAGTAA others(141): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0277 | 1 | 332 | 0.0030 | -148 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44115635 | CTAACTAA others(141): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02486.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(1): Show | a0001c0001t0001g0070a0001c0001t0009g0091a0001c0001t0013g0124others(1): Show | 4 | 332 | 0.0121 | -148 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PCNX1_chr14_70902459_71120382 | 71035480 | AGGTGTGG others(141): Show |
A | intron_variant | MODIFIER | HG03654.hp1 NA18964.hp1 NA19000.hp2 others(1): Show |
a0001a0014 | a0001c0006a0014c0015 | a0001c0006t0029a0001c0006t0062a0014c0015t0063 | a0001c0006t0029g0122a0001c0006t0029g0132a0001c0006t0062g0130others(1): Show | 4 | 352 | 0.0114 | -148 | c.377 others(17): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177946685 | GGGGGGGG others(141): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01175.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0005a0001c0009others(4): Show | a0001c0003t0049a0001c0003t0052a0001c0005t0015others(7): Show | a0001c0003t0049g0143a0001c0003t0052g0029a0001c0005t0015g0012others(7): Show | 10 | 170 | 0.0588 | -148 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 401786 | ACCCCCGG others(141): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02300.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0006t0001a0001c0009t0001 | a0001c0001t0001g0043a0001c0001t0001g0188a0001c0006t0001g0027others(1): Show | 4 | 216 | 0.0185 | -148 | c.173 others(19): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 297279 | TGGGGATC others(141): Show |
T | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0055 | 1 | 176 | 0.0057 | -148 | c.734 others(17): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834509 | TGAGGAAG others(141): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG01109.hp2 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0021 | a0001c0001t0001a0002c0002t0002a0015c0021t0004 | a0001c0001t0001g0133a0001c0001t0001g0167a0002c0002t0002g0032others(3): Show | 6 | 300 | 0.0200 | -148 | c.*26 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2587 | chr19 | TogoVar | |||||||
| PLEKHA4_chr19_48832097_48873617 | 48834630 | AGGGCTGG others(141): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 300 | 0.0033 | -148 | c.*25 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2466 | chr19 | TogoVar | |||||||
| PLEKHG4B_chr5_87168_194966 | 177875 | ACTTTCGT others(141): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0008a0001c0007t0109a0001c0007t0110 | a0001c0007t0008g0143a0001c0007t0008g0145a0001c0007t0008g0146others(3): Show | 6 | 210 | 0.0286 | -148 | c.440 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHG7_chr12_92697989_92777455 | 92727987 | CACACACC others(141): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0166 | 1 | 252 | 0.0040 | -148 | c.531 others(15): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PPP2R2C_chr4_6315581_6477614 | 6336653 | CTCCCTCC others(141): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0179 | 1 | 298 | 0.0034 | -148 | c.791 others(17): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
| PPP2R2D_chr10_131896008_131964834 | 131939495 | GGCAGACC others(141): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0262 | 1 | 394 | 0.0025 | -148 | c.199 others(15): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PRDM15_chr21_41793225_41884344 | 41806119 | ACCACCAT others(141): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0211 | 1 | 406 | 0.0025 | -148 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
| PRKG1_chr10_51069487_52303350 | 51858053 | AATATATA others(141): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0026a0001c0001t0003g0015a0001c0001t0003g0023 | 3 | 64 | 0.0469 | -148 | c.699 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PRSS55_chr8_10520532_10543819 | 10529217 | AGCAGAAA others(141): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 480 | 0.0021 | -148 | c.155 others(15): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18594166 | ACATATTA others(141): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02300.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0009a0003c0004t0035 | a0002c0003t0009g0106a0003c0004t0035g0020 | 2 | 228 | 0.0088 | -148 | c.248 others(19): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
| PXDNL_chr8_51314577_51814445 | 51600730 | TATCTTAT others(141): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02615.hp1 HG02630.hp2 others(3): Show |
a0004a0021 | a0004c0004a0021c0022 | a0004c0004t0001a0004c0004t0003a0021c0022t0003 | a0004c0004t0001g0049a0004c0004t0001g0050a0004c0004t0001g0065others(3): Show | 6 | 122 | 0.0492 | -148 | c.237 others(17): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
| PXDN_chr2_1626887_1749515 | 1704305 | GAAGGACA others(141): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 | 1 | 322 | 0.0031 | -148 | c.201 others(19): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
| RDH13_chr19_55039316_55068148 | 55055577 | CGCCTGTA others(141): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 377 | 0.0027 | -148 | c.340 others(16): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
| REXO5_chr16_20801527_20854665 | 20820503 | TCTCTCTC others(141): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 372 | 0.0027 | -148 | c.476 others(17): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1076350 | CTGAGGCT others(141): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02258.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0014 | 2 | 324 | 0.0062 | -148 | c.-24 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2045 | chr1 | TogoVar | |||||||
| ROBO1_chr3_78592239_79772998 | 78842406 | TTTTATAT others(141): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0022others(7): Show | 10 | 44 | 0.2273 | -148 | c.500 others(19): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 4/30 | chr3 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288226 | TCTCTGCT others(141): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA18998.hp2 NA19005.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0133a0003c0004t0003g0135a0003c0004t0003g0137others(1): Show | 4 | 290 | 0.0138 | -148 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288683 | CCGTGTCC others(141): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 290 | 0.0035 | -148 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289377 | CCGTGTCT others(141): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0128 | 1 | 290 | 0.0035 | -148 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43280749 | CCTGTCAC others(141): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001a0002 | a0001c0010a0002c0014a0002c0025 | a0001c0010t0033a0002c0014t0014a0002c0025t0034others(1): Show | a0001c0010t0033g0006a0002c0014t0014g0260a0002c0025t0034g0018others(1): Show | 4 | 280 | 0.0143 | -148 | c.484 others(19): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
| SGCZ_chr8_14079845_15243431 | 14551473 | TTATATAT others(141): Show |
T | intron_variant | MODIFIER | HG01993.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0015others(3): Show | a0001c0001t0005g0072a0001c0001t0013g0026a0001c0001t0015g0005others(3): Show | 6 | 102 | 0.0588 | -148 | c.234 others(17): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar |