| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132233735 | GTGGAGCC others(713): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 183 | 0.0055 | -720 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132234167 | GTGGAGTC others(713): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 183 | 0.0055 | -720 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132234322 | AGTGCCAC others(713): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp1 NA19085.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0002 | a0001c0002t0001g0069a0001c0002t0001g0151a0001c0009t0002g0174 | 3 | 183 | 0.0164 | -720 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132234394 | CAGAGGAG others(713): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0040 | a0001c0040t0007 | a0001c0040t0007g0002 | 1 | 183 | 0.0055 | -720 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GUCY2C_chr12_14607632_14701599 | 14700656 | AAGAATAA others(713): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 236 | 0.0042 | -720 | c.-49 others(11): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 4058 | chr12 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195777119 | CCCATACC others(713): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0180 | a0180c0033 | a0180c0033t0002 | a0180c0033t0002g0195 | 1 | 249 | 0.0040 | -720 | c.129 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195780352 | GTGACGTG others(713): Show |
G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -720 | c.105 others(11): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11339/16756 | 10508/16239 | 3503/5412 | chr3 | TogoVar | ||
| OTUD7A_chr15_31470398_31875673 | 31510788 | TATGTATA others(713): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0046 | a0001c0006t0046g0242 | 1 | 244 | 0.0041 | -720 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510791 | GTATATCT others(713): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0035 | a0001c0006t0035g0001 | 1 | 244 | 0.0041 | -720 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686870 | GCACAGCG others(713): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 362 | 0.0028 | -720 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 293229 | TGATCAAG others(713): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 360 | 0.0028 | -720 | c.164 others(19): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740507 | CGGACAGT others(713): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 NA19078.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0019 | a0003c0003t0001g0003a0003c0003t0019g0124 | 2 | 445 | 0.0045 | -720 | c.-24 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2363 | chr17 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070632 | GGGCATCA others(713): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0034 | a0002c0034t0002 | a0002c0034t0002g0091 | 1 | 118 | 0.0085 | -720 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974917 | CAGGGAAA others(713): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 150 | 0.0067 | -720 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245976329 | AGCCCAGG others(713): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 150 | 0.0067 | -720 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| TMEM241_chr18_23291013_23442961 | 23344074 | TTTTCACC others(713): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 340 | 0.0029 | -720 | c.765 others(17): Show |
TMEM241 | ENSG00000134490.14 | transcript | ENST00000383233.8 | protein_coding | 13/14 | chr18 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827203 | ATGGGCAT others(713): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0019 | a0001c0019t0010 | a0001c0019t0010g0090 | 1 | 200 | 0.0050 | -720 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1699657 | TCAATACA others(712): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 NA18967.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0055a0002c0002t0004a0002c0002t0007others(2): Show | a0001c0001t0055g0089a0002c0002t0004g0082a0002c0002t0007g0001others(2): Show | 5 | 106 | 0.0472 | -719 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ALDH6A1_chr14_74051847_74089453 | 74078630 | TGATTCTC others(712): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG06807.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0144a0001c0002t0023g0152a0001c0002t0023g0153 | 3 | 402 | 0.0075 | -719 | c.49- others(15): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
| HECW1_chr7_43107647_43571001 | 43181064 | TTTTAAGA others(712): Show |
T | intron_variant | MODIFIER | HG02572.hp2 NA20129.hp1 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0003a0001c0021t0029 | a0001c0004t0003g0077a0001c0021t0029g0093 | 2 | 182 | 0.0110 | -719 | c.-31 others(19): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MYO1G_chr7_44957662_44984015 | 44960927 | GGGGCTGA others(712): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0037 | 1 | 378 | 0.0027 | -719 | c.*10 others(11): Show |
MYO1G | ENSG00000136286.16 | transcript | ENST00000258787.12 | protein_coding | 1734 | chr7 | TogoVar | ||||||
| PPP4R1_chr18_9541794_9619559 | 9591136 | TCAGAAGT others(712): Show |
T | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 388 | 0.0026 | -719 | c.295 others(17): Show |
PPP4R1 | ENSG00000154845.16 | transcript | ENST00000400556.8 | protein_coding | 4/19 | chr18 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231107 | CCCCTACT others(711): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02683.hp1 NA18964.hp2 others(3): Show |
a0001a0003 | a0001c0011a0001c0013a0001c0020others(1): Show | a0001c0011t0001a0001c0013t0004a0001c0020t0001others(1): Show | a0001c0011t0001g0065a0001c0011t0001g0116a0001c0013t0004g0036others(3): Show | 6 | 183 | 0.0328 | -718 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114006593 | CCACTCCT others(711): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 67 | 0.0149 | -718 | c.174 others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RNH1_chr11_489515_512242 | 510431 | ATCTCTAC others(711): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp1 NA18960.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 387 | 0.0103 | -718 | c.-42 others(11): Show |
RNH1 | ENSG00000023191.17 | transcript | ENST00000354420.7 | protein_coding | 3190 | chr11 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 287497 | TCCCTCTC others(711): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02895.hp2 |
a0001 | a0001c0003 | a0001c0003t0030a0001c0003t0036 | a0001c0003t0030g0122a0001c0003t0036g0064 | 2 | 133 | 0.0150 | -718 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1739450 | GGCCTGAT others(711): Show |
G | upstream_gene_variant | MODIFIER | NA18979.hp1 NA18992.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0007a0003c0003t0004g0007 | 2 | 445 | 0.0045 | -718 | c.-34 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3420 | chr17 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827734 | GGCATCAC others(711): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0182 | 1 | 200 | 0.0050 | -718 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739405 | AGCCTGAT others(711): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0011 | a0011c0065 | a0011c0065t0001 | a0011c0065t0001g0100 | 1 | 431 | 0.0023 | -718 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 821 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739450 | GGCCTGAT others(711): Show |
G | downstream_gene_variant | MODIFIER | NA18979.hp1 NA18995.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 2 | 431 | 0.0046 | -718 | c.*17 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 866 | chr17 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231787 | TACACACT others(710): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0036 | a0001c0036t0003 | a0001c0036t0003g0055 | 1 | 183 | 0.0055 | -717 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GNGT1_chr7_93901567_93916265 | 93912509 | ATACTACA others(710): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(252): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(11): Show | 255 | 430 | 0.5930 | -717 | c.*15 others(11): Show |
GNGT1 | ENSG00000127928.13 | transcript | ENST00000248572.10 | protein_coding | 1245 | chr7 | TogoVar | ||||||
| NUBPL_chr14_31556404_31866224 | 31734961 | TCTAGGCC others(710): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0007 | 1 | 268 | 0.0037 | -717 | c.514 others(19): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66798866 | GTGGTGGT others(710): Show |
G | intron_variant | MODIFIER | NA18942.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084a0001c0001t0005g0173 | 2 | 178 | 0.0112 | -717 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SCT_chr11_621309_632181 | 631464 | GATTCTCC others(710): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01169.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0002t0001g0003a0002c0004t0001g0006 | 16 | 411 | 0.0389 | -717 | c.-50 others(11): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 4284 | chr11 | TogoVar | ||||||
| FHIP1A_chr4_151404176_151675503 | 151421569 | GTCTTGGC others(709): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 252 | 0.0040 | -716 | c.-35 others(21): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510763 | TATGTATA others(709): Show |
T | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0139 | 1 | 244 | 0.0041 | -716 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44114388 | AGATACAT others(709): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0006a0001c0002t0025 | a0001c0001t0010g0137a0001c0001t0010g0322a0001c0002t0006g0134others(2): Show | 5 | 332 | 0.0151 | -716 | c.274 others(17): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 287555 | TCTCTCCA others(709): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 133 | 0.0075 | -716 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| CCDC200_chr17_43216420_43233623 | 43232908 | AATTACTA others(708): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 334 | 0.0030 | -715 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4286 | chr17 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6449700 | AGAGGTTG others(708): Show |
A | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 380 | 0.0026 | -715 | c.-25 others(11): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 1747 | chr7 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6449986 | CCCTGCAG others(708): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0001a0002 | a0001c0004a0002c0009 | a0001c0004t0002a0002c0009t0003 | a0001c0004t0002g0197a0002c0009t0003g0215 | 2 | 380 | 0.0053 | -715 | c.-28 others(11): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 2033 | chr7 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6450047 | TGTTGAAC others(708): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01070.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0324a0001c0001t0001g0325a0001c0001t0001g0326others(19): Show | 22 | 380 | 0.0579 | -715 | c.-29 others(11): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 2094 | chr7 | TogoVar | ||||||
| DBNDD1_chr16_89999871_90024456 | 90003460 | CGGCCCGG others(708): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0249 | 1 | 412 | 0.0024 | -715 | c.*21 others(11): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1410 | chr16 | TogoVar | ||||||
| ENTPD8_chr9_137429364_137446357 | 137440522 | CCCCCCAG others(708): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0044a0001c0001t0001g0160a0001c0001t0008g0045 | 5 | 392 | 0.0128 | -715 | c.-21 others(14): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1086549 | GTTGTTGT others(708): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0008 | a0008c0011 | a0008c0011t0044 | a0008c0011t0044g0068 | 1 | 162 | 0.0062 | -715 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERICH1_chr8_659200_736224 | 675761 | TGAGGACA others(708): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0002g0012 | 2 | 378 | 0.0053 | -715 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 2035438 | CGGGACAG others(708): Show |
C | intron_variant | MODIFIER | HG03927.hp1 HG04115.hp1 HG04199.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0097a0001c0004t0001g0099a0001c0004t0001g0100 | 3 | 264 | 0.0114 | -715 | c.121 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | ||||||
| PLA2G4C_chr19_48042846_48115817 | 48101732 | TGGTTCGA others(708): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0010 | a0010c0031 | a0010c0031t0002 | a0010c0031t0002g0188 | 1 | 322 | 0.0031 | -715 | c.257 others(17): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4/16 | chr19 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131495988 | AGAAAAAC others(708): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0019 | a0005c0019t0006 | a0005c0019t0006g0055 | 1 | 440 | 0.0023 | -715 | c.*76 others(11): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 4282 | chr7 | TogoVar |