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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN1_chr9_137134154_137173756 | 137145101 | GGGGGTCC others(106): Show |
G | intron_variant | MODIFIER | HG00741.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0106 |
2 | 296 | 0.0068 | -113 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015597 | GCTGGGGT others(106): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0167 | 1 | 218 | 0.0046 | -113 | c.160 others(16): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962199 | TATATATA others(106): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0077 | 1 | 266 | 0.0038 | -113 | c.202 others(17): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HRC_chr19_49146198_49160396 | 49156859 | CTCTCTGG others(106): Show |
C | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0017 | a0017c0054 | a0017c0054t0001 | a0017c0054t0001g0079 | 1 | 402 | 0.0025 | -113 | c.-17 others(11): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1464 | chr19 | TogoVar | |||||||
HSD17B11_chr4_87331515_87396188 | 87378850 | ATATATAA others(106): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02559.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(1): Show | a0001c0002t0001g0284 a0001c0003t0002g0036 a0001c0003t0004g0350 others(6): Show |
9 | 384 | 0.0234 | -113 | c.318 others(17): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015597 | GCTGGGGT others(106): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0010 | a0003c0010t0012 | a0003c0010t0012g0067 | 1 | 239 | 0.0042 | -113 | c.*38 others(11): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3312 | chr10 | TogoVar | |||||||
IGSF9B_chr11_133891438_133961968 | 133932575 | GAGACAGA others(106): Show |
G | intron_variant | MODIFIER | NA18981.hp1 | a0009 | a0009c0030 | a0009c0030t0045 | a0009c0030t0045g0241 | 1 | 318 | 0.0031 | -113 | c.968 others(15): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
INAFM1_chr19_47269885_47280723 | 47279141 | AAATACAA others(106): Show |
A | downstream_gene_variant | MODIFIER | NA18747.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0000 | 1 | 392 | 0.0026 | -113 | c.*37 others(11): Show |
INAFM1 | ENSG00000257704.4 | transcript | ENST00000552360.4 | protein_coding | 3419 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79828967 | ATGTGGGT others(106): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(87): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0102 a0001c0009t0001g0166 a0002c0002t0001g0001 others(86): Show |
90 | 310 | 0.2903 | -113 | c.-11 others(21): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79885899 | GGACAGGG others(106): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01258.hp1 HG02148.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0004c0008t0004 | a0001c0001t0001g0007 a0001c0001t0001g0228 a0001c0001t0001g0256 others(6): Show |
9 | 310 | 0.0290 | -113 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KLHL17_chr1_955584_970719 | 964575 | GGCTGTGG others(106): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0008t0003a0001c0008t0010 | a0001c0001t0009g0014 a0001c0008t0003g0024 a0001c0008t0010g0051 |
7 | 397 | 0.0176 | -113 | c.170 others(16): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLHL17_chr1_955584_970719 | 964631 | CGGGTCCG others(106): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01515.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0020 a0001c0001t0004g0003 others(2): Show |
10 | 394 | 0.0254 | -113 | c.170 others(17): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
KLHL17_chr1_955584_970719 | 964661 | GGGGGGCG others(106): Show |
G | intron_variant | MODIFIER | HG03831.hp1 NA18994.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 2 | 428 | 0.0047 | -113 | c.170 others(17): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579008 | GGGAGAGG others(106): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0105 | 1 | 376 | 0.0027 | -113 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 960366 | CAGACTCA others(106): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0025 | 1 | 292 | 0.0034 | -113 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132358505 | CAGCGTGG others(106): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01891.hp2 others(16): Show |
a0001a0002a0006 | a0001c0003a0001c0007a0001c0011others(3): Show | a0001c0003t0006a0001c0003t0007a0001c0007t0007others(4): Show | a0001c0003t0006g0001 a0001c0003t0006g0089 a0001c0003t0006g0090 others(15): Show |
19 | 286 | 0.0664 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358609 | GAGGTGGT others(106): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 a0001c0001t0005g0070 |
2 | 272 | 0.0074 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358814 | GGAGCGTG others(106): Show |
G | intron_variant | MODIFIER | HG00741.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0178 |
2 | 286 | 0.0070 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358847 | CGTAGGGA others(106): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0097 | 1 | 248 | 0.0040 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358899 | GAGCAGTG others(106): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0016 | 1 | 273 | 0.0037 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132358926 | TAGAGCAG others(106): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 NA18998.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0011 | a0001c0001t0002g0186 a0002c0004t0011g0017 a0002c0004t0011g0018 |
3 | 286 | 0.0105 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132359021 | GAGGAGCC others(106): Show |
G | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 283 | 0.0035 | -113 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76867143 | GGGTGTGT others(106): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0006 | a0001c0005t0004g0191 a0001c0005t0004g0193 a0001c0005t0004g0322 others(1): Show |
4 | 406 | 0.0099 | -113 | c.130 others(16): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRTM4_chr2_76742685_77527376 | 77135746 | TTGAAGGC others(106): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 128 | 0.0078 | -113 | c.155 others(23): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 25030902 | TATAATAT others(106): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 114 | 0.0088 | -113 | c.766 others(19): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | chr11 | TogoVar | |||||||
MACROD2_chr20_13990516_16058197 | 14831921 | CTTGGGGA others(106): Show |
C | intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0010 | a0001c0001t0001g0004 a0002c0002t0010g0007 |
2 | 24 | 0.0833 | -113 | c.418 others(21): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 2058877 | GGGGCTAG others(106): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 259 | 0.0039 | -113 | c.121 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 12/18 | chr7 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84050852 | CGCATGTG others(106): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(5): Show | a0001c0001t0003g0378 a0001c0001t0007g0206 a0001c0001t0007g0207 others(24): Show |
29 | 422 | 0.0687 | -113 | c.*34 others(11): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2910 | chr16 | TogoVar | |||||||
MGAM_chr7_141990879_142111747 | 142043314 | ATTATATA others(106): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(43): Show |
a0001a0002a0012others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(12): Show | a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0130 others(43): Show |
46 | 296 | 0.1554 | -113 | c.249 others(19): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | |||||||
MINK1_chr17_4828340_4903061 | 4879032 | GGGAGCCG others(106): Show |
G | intron_variant | MODIFIER | HG02155.hp2 NA18979.hp2 NA18980.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0011 a0003c0003t0003g0027 a0003c0003t0003g0073 |
3 | 358 | 0.0084 | -113 | c.123 others(15): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MTMR1_chrX_150688396_150770108 | 150769674 | TGCCTGCG others(106): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00642.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0120 others(25): Show |
37 | 266 | 0.1391 | -113 | c.*69 others(11): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 4567 | chrX | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667870 | CCTTACCC others(106): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 371 | 0.0027 | -113 | c.148 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668083 | ACTGGGTC others(106): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 336 | 0.0030 | -113 | c.147 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668100 | TCCTTACC others(106): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp1 HG03225.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0227 a0001c0005t0001g0229 a0001c0005t0001g0231 |
3 | 163 | 0.0184 | -113 | c.147 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668126 | CCCTCCTT others(106): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01496.hp2 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0010c0017t0001 | a0001c0001t0001g0006 a0010c0017t0001g0355 |
3 | 371 | 0.0081 | -113 | c.147 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807299 | CTCCCGCC others(106): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG02148.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0002 | a0001c0001t0001g0001 a0001c0004t0001g0111 a0001c0004t0001g0160 others(2): Show |
5 | 316 | 0.0158 | -113 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1893 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807332 | CCTTCCCT others(106): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0079 |
2 | 317 | 0.0063 | -113 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1860 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807335 | TCCCTCCC others(106): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0036 | 1 | 316 | 0.0032 | -113 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1857 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807693 | TCCCTCCC others(106): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 317 | 0.0032 | -113 | c.-15 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1499 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807962 | CGCAGGCC others(106): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0113 | 1 | 194 | 0.0052 | -113 | c.-13 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1230 | chr2 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26176780 | AGGCAGAG others(106): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0172 |
5 | 398 | 0.0126 | -113 | c.571 others(17): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993494 | CCCTCCCC others(106): Show |
C | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0128 | 1 | 343 | 0.0029 | -113 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4866 | chr19 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29383304 | TCGGCAGT others(106): Show |
T | frameshift_variant | HIGH | HG01175.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0362 | 1 | 426 | 0.0023 | -113 | c.151 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4374/6369 | 1515/3486 | 505/1161 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0049 others(28): Show |
31 | 144 | 0.2153 | -113 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5234/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835391 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG02451.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0039 | 1 | 204 | 0.0049 | -113 | c.288 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3210/4020 | 2883/3669 | 961/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835517 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG01934.hp1 HG01975.hp1 HG02559.hp2 others(4): Show |
a0004a0014a0035others(2): Show | a0004c0065a0014c0022a0014c0056others(3): Show | a0004c0065t0001a0014c0022t0001a0014c0056t0001others(3): Show | a0004c0065t0001g0090 a0014c0022t0001g0074 a0014c0022t0001g0075 others(4): Show |
7 | 196 | 0.0357 | -113 | c.275 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3084/4020 | 2757/3669 | 919/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835643 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG03453.hp2 NA18747.hp1 NA18964.hp1 others(1): Show |
a0004a0046 | a0004c0006a0004c0015a0046c0046 | a0004c0006t0001a0004c0015t0001a0046c0046t0001 | a0004c0006t0001g0044 a0004c0006t0001g0094 a0004c0015t0001g0095 others(1): Show |
4 | 201 | 0.0199 | -113 | c.263 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2958/4020 | 2631/3669 | 877/1222 | chr16 | TogoVar | |||
NXN_chr17_794310_984776 | 942705 | CATCACAC others(106): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 240 | 0.0042 | -113 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948933 | CCCCCCTG others(106): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 235 | 0.0043 | -113 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8757454 | CAGGTCAG others(106): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 208 | 0.0048 | -113 | c.*56 others(11): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 4494 | chr7 | TogoVar |