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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NR5A2_chr1_200022710_200182415 | 200127695 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01993.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002 | a0001c0001t0002g0161a0001c0003t0001g0027a0001c0003t0002g0155 | 3 | 286 | 0.0105 | 19 | c.137 others(38): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200127699 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 286 | 0.0035 | 19 | c.137 others(38): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200127703 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0061 | 1 | 286 | 0.0035 | 19 | c.137 others(38): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
NR6A1_chr9_124512275_124776311 | 124637907 | A | AAAAAAAG others(12): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0006 | a0002c0006t0069 | a0002c0006t0069g0234 | 1 | 234 | 0.0043 | 19 | c.143 others(38): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
NR6A1_chr9_124512275_124776311 | 124666275 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0179 | 1 | 234 | 0.0043 | 19 | c.142 others(38): Show |
NR6A1 | ENSG00000148200.17 | transcript | ENST00000487099.7 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108164547 | C | CCAGCGGG others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001a0004 | a0001c0003a0004c0025 | a0001c0003t0002a0004c0025t0006 | a0001c0003t0002g0108a0004c0025t0006g0097 | 2 | 208 | 0.0096 | 19 | c.346 others(38): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
NRCAM_chr7_108142649_108461436 | 108335434 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03098.hp2 NA18949.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0002 | a0001c0001t0001g0087a0001c0002t0001g0073a0001c0009t0002g0081 | 3 | 208 | 0.0144 | 19 | c.-17 others(40): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 2/32 | chr7 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90280225 | G | GCCAGTCC others(12): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 |
a0001 | a0001c0008 | a0001c0008t0079a0001c0008t0080 | a0001c0008t0079g0223a0001c0008t0080g0222 | 2 | 344 | 0.0058 | 19 | c.329 others(38): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 12/13 | chr14 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90299218 | G | GTGTTTTT others(12): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0037 | 1 | 344 | 0.0029 | 19 | c.154 others(36): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90330222 | T | TAAATAAA others(12): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0014 | 1 | 344 | 0.0029 | 19 | c.64+ others(34): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 1/13 | chr14 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129754464 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0191 | 2 | 384 | 0.0052 | 19 | c.134 others(36): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 NA19086.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0266a0001c0003t0001g0007 | 2 | 384 | 0.0052 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 NA18983.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0273a0001c0003t0001g0017 | 2 | 384 | 0.0052 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0335 | 1 | 384 | 0.0026 | 19 | c.*64 others(30): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | ||||||
NRG1_chr8_32543311_32779046 | 32559245 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01168.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0040a0001c0001t0043a0001c0001t0060others(3): Show | a0001c0001t0040g0064a0001c0001t0043g0058a0001c0001t0060g0057others(4): Show | 7 | 244 | 0.0287 | 19 | c.100 others(38): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0064a0001c0001t0094a0001c0001t0112others(2): Show | a0001c0001t0064g0008a0001c0001t0094g0228a0001c0001t0112g0231others(2): Show | 5 | 244 | 0.0205 | 19 | c.502 others(38): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRG1_chr8_32543311_32779046 | 32725464 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0233 | 1 | 244 | 0.0041 | 19 | c.503 others(36): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NRG2_chr5_139841781_140048299 | 139960754 | A | ACAGGTAG others(12): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0009 | a0009c0015 | a0009c0015t0002 | a0009c0015t0002g0185 | 1 | 188 | 0.0053 | 19 | c.701 others(38): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0131 | 2 | 188 | 0.0106 | 19 | c.700 others(38): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
NRG4_chr15_75935936_76017424 | 76017155 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0141 | 1 | 368 | 0.0027 | 19 | c.-49 others(30): Show |
NRG4 | ENSG00000169752.17 | transcript | ENST00000394907.8 | protein_coding | 4732 | chr15 | TogoVar | ||||||
NRGN_chr11_124734942_124752210 | 124735138 | T | TCTGCTTA others(12): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | 19 | c.-49 others(30): Show |
NRGN | ENSG00000154146.13 | transcript | ENST00000284292.11 | protein_coding | 4803 | chr11 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15019470 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18973.hp1 NA18998.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0044 | a0002c0003t0003g0036a0002c0003t0003g0037a0002c0003t0003g0049others(2): Show | 5 | 398 | 0.0126 | 19 | c.-45 others(38): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG02602.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0014 | a0001c0003t0003a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0003t0003g0121a0001c0005t0001g0072a0001c0005t0003g0088others(2): Show | 5 | 262 | 0.0191 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0003a0001c0003t0003a0001c0005t0003 | a0001c0002t0003g0023a0001c0003t0003g0103a0001c0005t0003g0032 | 3 | 262 | 0.0115 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0217 | 1 | 262 | 0.0038 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33199390 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18986.hp2 NA18995.hp2 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0026 | a0001c0003t0002a0001c0003t0003a0001c0005t0003others(1): Show | a0001c0003t0002g0113a0001c0003t0003g0036a0001c0003t0003g0037others(2): Show | 5 | 262 | 0.0191 | 19 | c.186 others(38): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33337221 | T | TCTCCACC others(12): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 262 | 0.0038 | 19 | c.-28 others(30): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 2555 | chr10 | TogoVar | ||||||
NRP1_chr10_33172493_33339667 | 33337221 | T | TCTCCACC others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0025a0001c0001t0001g0077a0001c0001t0001g0080others(237): Show | 240 | 262 | 0.9160 | 19 | c.-28 others(30): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 2555 | chr10 | TogoVar | ||||||
NRSN1_chr6_24121215_24152530 | 24142191 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0062 | 1 | 406 | 0.0025 | 19 | c.190 others(36): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NRSN1_chr6_24121215_24152530 | 24142212 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0168 | 1 | 406 | 0.0025 | 19 | c.190 others(36): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NRXN1_chr2_49913503_51037132 | 50019641 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0002a0001c0012t0041 | a0001c0003t0002g0024a0001c0012t0041g0100 | 2 | 116 | 0.0172 | 19 | c.412 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50447737 | T | TTTATATA others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 116 | 0.0086 | 19 | c.336 others(40): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50489881 | G | GATAACTG others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0036a0001c0001t0002g0035a0001c0001t0002g0047others(16): Show | 19 | 116 | 0.1638 | 19 | c.307 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 15/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50501426 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0107 | 1 | 116 | 0.0086 | 19 | c.249 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 13/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0040a0001c0002t0013g0110 | 2 | 116 | 0.0172 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 116 | 0.0086 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03486.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0004c0013t0001 | a0001c0001t0001g0036a0004c0013t0001g0111 | 2 | 116 | 0.0172 | 19 | c.833 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50865658 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0004 | 1 | 116 | 0.0086 | 19 | c.832 others(38): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 78173709 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0002 | 1 | 24 | 0.0417 | 19 | c.-70 others(38): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NSA2_chr5_74762249_74785113 | 74784510 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0074 | 1 | 402 | 0.0025 | 19 | c.*78 others(30): Show |
NSA2 | ENSG00000164346.10 | transcript | ENST00000610426.5 | protein_coding | 4398 | chr5 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158290 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0151 | 1 | 298 | 0.0034 | 19 | c.927 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSD1_chr5_177128773_177305213 | 177207593 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0126 | 1 | 298 | 0.0034 | 19 | c.123 others(38): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSG1_chr4_4382102_4424058 | 4387753 | G | GATAAGGT others(12): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 394 | 0.0025 | 19 | c.125 others(29): Show |
NSG1 | ENSG00000168824.15 | transcript | ENST00000621129.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NSL1_chr1_212721153_212796777 | 212724958 | G | GTGTCTCT others(12): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG03491.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0019a0002c0002t0122others(1): Show | a0002c0002t0012g0271a0002c0002t0012g0272a0002c0002t0012g0273others(8): Show | 12 | 364 | 0.0330 | 19 | c.*13 others(32): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 1194 | chr1 | TogoVar | ||||||
NSL1_chr1_212721153_212796777 | 212724960 | G | GTCTCTGC others(12): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(81): Show |
a0002a0003a0004 | a0002c0002a0002c0009a0003c0003others(1): Show | a0002c0002t0034a0002c0002t0038a0002c0002t0065others(36): Show | a0002c0002t0034g0264a0002c0002t0034g0265a0002c0002t0038g0174others(76): Show | 84 | 364 | 0.2308 | 19 | c.*13 others(32): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 1192 | chr1 | TogoVar | ||||||
NSL1_chr1_212721153_212796777 | 212744164 | T | TGCCTGGC others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0065 | 1 | 364 | 0.0028 | 19 | c.500 others(36): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
NSL1_chr1_212721153_212796777 | 212754769 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03195.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0025a0002c0002t0093a0002c0002t0094 | a0002c0002t0025g0118a0002c0002t0093g0117a0002c0002t0094g0116 | 3 | 364 | 0.0082 | 19 | c.500 others(38): Show |
NSL1 | ENSG00000117697.15 | transcript | ENST00000366977.8 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
NSMCE2_chr8_125086860_125372120 | 125170376 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 244 | 0.0041 | 19 | c.265 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NSMCE2_chr8_125086860_125372120 | 125333505 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0222 | 2 | 244 | 0.0082 | 19 | c.419 others(38): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NSMCE2_chr8_125086860_125372120 | 125367509 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 244 | 0.0041 | 19 | c.*62 others(28): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 390 | chr8 | TogoVar |