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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP1A_chr16_89639435_89662708 | 89647648 | G | GGACCCAG others(875): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 141 | 0.0071 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648237 | G | GACCCAGT others(875): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 291 | 0.0034 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648309 | C | CGCCGACG others(875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 282 | 0.0035 | 882 | c.253 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648435 | C | CGCCGACG others(875): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 354 | 0.0028 | 882 | c.252 others(897): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500846 | G | GTGTGTGT others(875): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 NA21309.hp1 |
a0001a0020a0032 | a0001c0039a0020c0093a0032c0092 | a0001c0039t0001a0020c0093t0015a0032c0092t0001 | a0001c0039t0001g0143 a0020c0093t0015g0173 a0032c0092t0001g0124 |
3 | 287 | 0.0105 | 882 | c.268 others(901): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(875): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 196 | 0.0051 | 882 | c.181 others(901): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(875): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18953.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 a0001c0002t0002g0167 |
2 | 197 | 0.0102 | 882 | c.181 others(901): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138742298 | G | GTGATTGT others(875): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG03041.hp1 others(1): Show |
a0001a0006 | a0001c0006a0001c0008a0001c0014others(1): Show | a0001c0006t0001a0001c0008t0002a0001c0014t0001others(1): Show | a0001c0006t0001g0062 a0001c0008t0002g0091 a0001c0014t0001g0120 others(1): Show |
4 | 156 | 0.0256 | 882 | c.208 others(901): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(875): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0035 | 1 | 171 | 0.0058 | 882 | c.85- others(899): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGTGACG others(875): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01952.hp1 HG02074.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003 | a0004c0004t0001g0301 a0004c0004t0001g0303 a0004c0004t0001g0307 others(8): Show |
11 | 357 | 0.0308 | 882 | c.241 others(901): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGTGACG others(875): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0314 | 1 | 347 | 0.0029 | 882 | c.241 others(901): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(875): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 312 | 0.0032 | 882 | c.513 others(897): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(875): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 97 | 0.0103 | 882 | c.923 others(901): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(875): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 45 | 0.0222 | 882 | c.724 others(901): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1384639 | T | TCCCCTGA others(875): Show |
intron_variant | MODIFIER | HG01071.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001 | a0001c0002t0006g0011 a0001c0003t0001g0025 |
2 | 33 | 0.0606 | 882 | c.107 others(903): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1384639 | T | TCCCCTGA others(875): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0010a0003c0005 | a0001c0003t0001a0001c0010t0025a0003c0005t0002others(1): Show | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0010t0025g0012 others(2): Show |
5 | 36 | 0.1389 | 882 | c.107 others(903): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252863 | C | CCACCACC others(875): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 363 | 0.0028 | 882 | c.666 others(899): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(875): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0057 | 1 | 10 | 0.1000 | 882 | c.310 others(897): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399238 | C | CCACCATC others(875): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 307 | 0.0033 | 882 | c.-25 others(899): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(875): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 225 | 0.0044 | 882 | c.804 others(899): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(875): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 305 | 0.0033 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(875): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 305 | 0.0033 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATGGAA others(875): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 300 | 0.0033 | 882 | c.-27 others(893): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(875): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 124 | 0.0081 | 882 | c.*65 others(893): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0021 | a0001c0021t0007 | a0001c0021t0007g0355 | 1 | 110 | 0.0091 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0013a0001c0003t0002others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0002t0013g0071 others(5): Show |
8 | 117 | 0.0684 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02602.hp1 HG04199.hp2 others(1): Show |
a0001a0012 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0002a0001c0006t0004others(1): Show | a0001c0002t0001g0075 a0001c0004t0002g0061 a0001c0006t0004g0117 others(1): Show |
4 | 113 | 0.0354 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0014 | 1 | 110 | 0.0091 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0045 | a0001c0045t0012 | a0001c0045t0012g0015 | 1 | 110 | 0.0091 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0357 | 1 | 110 | 0.0091 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02922.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0085a0008c0010 | a0001c0001t0001a0001c0085t0016a0008c0010t0003 | a0001c0001t0001g0103 a0001c0085t0016g0016 a0008c0010t0003g0017 others(1): Show |
4 | 113 | 0.0354 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03041.hp1 |
a0001a0029 | a0001c0004a0029c0069 | a0001c0004t0019a0029c0069t0001 | a0001c0004t0019g0020 a0029c0069t0001g0019 |
2 | 111 | 0.0180 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961640 | C | CACAGACT others(875): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 |
a0001a0007 | a0001c0001a0007c0028 | a0001c0001t0001a0007c0028t0004 | a0001c0001t0001g0024 a0007c0028t0004g0017 |
2 | 273 | 0.0073 | 882 | c.194 others(899): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(875): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02074.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 349 | 0.0057 | 882 | c.-29 others(893): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478050 | G | GGGGGGAG others(875): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0019 | 1 | 120 | 0.0083 | 882 | c.525 others(899): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(875): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG01255.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0015t0003others(3): Show | a0001c0001t0001g0211 a0001c0001t0002g0119 a0001c0015t0003g0173 others(3): Show |
6 | 11 | 0.5455 | 882 | c.100 others(901): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(875): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 6 | 0.1667 | 882 | c.100 others(901): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(875): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0225 | 1 | 247 | 0.0040 | 882 | c.377 others(899): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 125 | 0.0080 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 125 | 0.0080 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 125 | 0.0080 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(875): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0032 | 1 | 8 | 0.1250 | 882 | c.250 others(897): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGGT others(875): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0262 | 1 | 139 | 0.0072 | 882 | c.141 others(899): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528394 | G | GGGGGTGG others(875): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 322 | 0.0031 | 882 | c.141 others(899): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19240.hp2 |
a0006a0019 | a0006c0006a0019c0022 | a0006c0006t0004a0019c0022t0003 | a0006c0006t0004g0005 a0019c0022t0003g0122 |
2 | 12 | 0.1667 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02615.hp1 |
a0004a0005 | a0004c0003a0005c0004 | a0004c0003t0002a0005c0004t0003 | a0004c0003t0002g0124 a0004c0003t0002g0125 a0005c0004t0003g0163 |
3 | 13 | 0.2308 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01070.hp2 others(55): Show |
a0001a0003a0006others(6): Show | a0001c0002a0001c0009a0003c0005others(8): Show | a0001c0002t0006a0001c0009t0001a0001c0009t0007others(16): Show | a0001c0002t0006g0115 a0001c0009t0001g0002 a0001c0009t0001g0046 others(53): Show |
58 | 68 | 0.8529 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0127 a0004c0003t0005g0128 |
2 | 12 | 0.1667 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03130.hp2 others(2): Show |
a0002a0004a0005 | a0002c0001a0002c0019a0004c0003others(1): Show | a0002c0001t0001a0002c0019t0003a0004c0003t0004others(1): Show | a0002c0001t0001g0166 a0002c0019t0003g0121 a0004c0003t0004g0172 others(2): Show |
5 | 15 | 0.3333 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(24): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0029 a0001c0002t0001g0093 a0001c0002t0001g0231 others(24): Show |
27 | 37 | 0.7297 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |