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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPFFR2_chr4_72027000_72153305 | 72070561 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 111 | 0.0090 | 23 | c.-8+ others(40): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0169 | 1 | 32 | 0.0313 | 23 | c.517 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATATTTTT others(16): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0188 | 1 | 32 | 0.0313 | 23 | c.517 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5964941 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0189 | 1 | 32 | 0.0313 | 23 | c.517 others(40): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 5/29 | chr1 | TogoVar | |||||||
NPIPA5_chr16_15358628_15383294 | 15377634 | G | GAGGGGAG others(16): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0020 | a0020c0012 | a0020c0012t0001 | a0020c0012t0001g0053 | 1 | 429 | 0.0023 | 23 | c.63+ others(36): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 1/7 | chr16 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29405368 | T | TTCCTGGT others(16): Show |
5_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0067 | a0067c0039 | a0067c0039t0021 | a0067c0039t0021g0041 | 1 | 426 | 0.0023 | 23 | c.-14 others(34): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 1/8 | 1567 | chr16 | TogoVar | ||||||
NPIPB13_chr16_30217897_30253479 | 30238672 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0070 | 1 | 16 | 0.0625 | 23 | c.121 others(40): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74377800 | C | CCCCCCTC others(16): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 171 | 0.0058 | 23 | c.-22 others(38): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB15_chr16_74371306_74397115 | 74377833 | T | TCCCCTCC others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01346.hp1 HG01928.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0034 a0001c0001t0005g0035 others(6): Show |
11 | 210 | 0.0524 | 23 | c.-22 others(38): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPIPB8_chr16_28633065_28663744 | 28646202 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0299 | 1 | 52 | 0.0192 | 23 | c.121 others(40): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPR3_chr5_32706321_32796720 | 32710859 | G | GTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0047 | 1 | 196 | 0.0051 | 23 | c.-91 others(32): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 461 | chr5 | TogoVar | |||||||
NPR3_chr5_32706321_32796720 | 32790262 | C | CAGCAAGA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0024others(8): Show | a0001c0001t0005g0079 a0001c0001t0005g0143 a0001c0001t0005g0153 others(20): Show |
24 | 318 | 0.0755 | 23 | c.*39 others(34): Show |
NPR3 | ENSG00000113389.16 | transcript | ENST00000265074.13 | protein_coding | 8/8 | 3927 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 103296 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0161 | 1 | 34 | 0.0294 | 23 | c.630 others(40): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34791160 | A | ATATATGT others(16): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0160 | 1 | 223 | 0.0045 | 23 | c.384 others(42): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPTN_chr15_73555014_73638389 | 73636112 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034 a0001c0001t0005g0261 |
2 | 209 | 0.0096 | 23 | c.-28 others(34): Show |
NPTN | ENSG00000156642.17 | transcript | ENST00000345330.9 | protein_coding | 2724 | chr15 | TogoVar | |||||||
NR0B1_chrX_30299206_30314390 | 30301017 | A | AGAGAGAG others(16): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 319 | 0.0031 | 23 | c.*35 others(34): Show |
NR0B1 | ENSG00000169297.8 | transcript | ENST00000378970.5 | protein_coding | 3188 | chrX | TogoVar | |||||||
NR2C1_chr12_95015229_95078618 | 95019484 | A | ATTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp2 NA18959.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0039 a0001c0001t0001g0330 a0001c0001t0001g0335 others(2): Show |
5 | 352 | 0.0142 | 23 | c.*27 others(34): Show |
NR2C1 | ENSG00000120798.17 | transcript | ENST00000333003.10 | protein_coding | 744 | chr12 | TogoVar | |||||||
NR2F1_chr5_93578222_93599611 | 93581729 | T | TCTCTCTC others(16): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 23 | c.-32 others(34): Show |
NR2F1 | ENSG00000175745.15 | transcript | ENST00000327111.8 | protein_coding | 1492 | chr5 | TogoVar | |||||||
NR3C1_chr5_143272934_143408686 | 143284470 | C | CATTACTA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(25): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0022others(3): Show | a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 others(25): Show |
28 | 264 | 0.1061 | 23 | c.202 others(42): Show |
NR3C1 | ENSG00000113580.15 | transcript | ENST00000394464.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148134641 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 107 | 0.0093 | 23 | c.251 others(44): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
NR3C2_chr4_148073764_148447414 | 148134643 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0154 | 1 | 28 | 0.0357 | 23 | c.251 others(44): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
NR4A3_chr9_99816885_99871891 | 99862549 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 62 | 0.0161 | 23 | c.163 others(42): Show |
NR4A3 | ENSG00000119508.18 | transcript | ENST00000395097.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NR5A1_chr9_124476236_124512399 | 124504051 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03017.hp1 NA19064.hp1 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0014a0002c0002t0018 | a0002c0002t0008g0034 a0002c0002t0014g0103 a0002c0002t0018g0069 |
3 | 297 | 0.0101 | 23 | c.-15 others(38): Show |
NR5A1 | ENSG00000136931.10 | transcript | ENST00000373588.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
NR5A2_chr1_200022710_200182415 | 200074736 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0266 | 1 | 68 | 0.0147 | 23 | c.111 others(44): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NR5A2_chr1_200022710_200182415 | 200127699 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0250 | 1 | 210 | 0.0048 | 23 | c.137 others(42): Show |
NR5A2 | ENSG00000116833.14 | transcript | ENST00000367362.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108268015 | A | AAACACTG others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(41): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(172): Show |
175 | 206 | 0.8495 | 23 | c.-10 others(44): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90330222 | T | TAAATAAA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(116): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0011a0001c0001t0024a0001c0001t0025others(47): Show | a0001c0001t0011g0294 a0001c0001t0024g0291 a0001c0001t0025g0289 others(107): Show |
119 | 237 | 0.5021 | 23 | c.64+ others(38): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 1/13 | chr14 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 HG04199.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0093 a0001c0001t0002g0151 a0001c0002t0004g0302 |
3 | 78 | 0.0385 | 23 | c.*64 others(34): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0001g0194 others(3): Show |
6 | 81 | 0.0741 | 23 | c.*64 others(34): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 76 | 0.0132 | 23 | c.*64 others(34): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRF1_chr7_129606720_129762076 | 129761680 | A | AAAAAAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0261 | 1 | 76 | 0.0132 | 23 | c.*64 others(34): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 4605 | chr7 | TogoVar | |||||||
NRG1_chr8_32543311_32779046 | 32634099 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0160a0005c0005t0091 | a0001c0001t0160g0134 a0005c0005t0091g0113 |
2 | 110 | 0.0182 | 23 | c.502 others(42): Show |
NRG1 | ENSG00000157168.22 | transcript | ENST00000405005.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NRG2_chr5_139841781_140048299 | 140029687 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG02647.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0123 a0001c0001t0001g0173 a0002c0002t0003g0096 |
3 | 122 | 0.0246 | 23 | c.700 others(42): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15019470 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0034 | 1 | 56 | 0.0179 | 23 | c.-45 others(42): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0034 | 1 | 152 | 0.0066 | 23 | c.186 others(42): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199389 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0042 | 1 | 152 | 0.0066 | 23 | c.186 others(42): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRP1_chr10_33172493_33339667 | 33199390 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18988.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0003a0001c0007t0004 | a0001c0003t0003g0072 a0001c0007t0004g0025 |
2 | 219 | 0.0091 | 23 | c.186 others(42): Show |
NRP1 | ENSG00000099250.18 | transcript | ENST00000374867.7 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50019641 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02886.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(3): Show | a0001c0001t0006g0055 a0001c0001t0011g0064 a0001c0001t0014g0020 others(3): Show |
6 | 41 | 0.1463 | 23 | c.412 others(44): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 21/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50373679 | A | AAAGAAGG others(16): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03540.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0036a0001c0002t0003 | a0001c0001t0001g0036 a0001c0001t0036g0061 a0001c0002t0003g0099 |
3 | 59 | 0.0508 | 23 | c.336 others(44): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50373679 | A | AAGGAAAG others(16): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 57 | 0.0175 | 23 | c.336 others(44): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50447737 | T | TTTATATA others(16): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0016 | 1 | 7 | 0.1429 | 23 | c.336 others(44): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50658439 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0062 | 1 | 112 | 0.0089 | 23 | c.833 others(42): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50829999 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0096 | 1 | 14 | 0.0714 | 23 | c.832 others(42): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 78938842 | A | ATTTTTCT others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0006t0017others(2): Show | a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0006t0017g0001 others(2): Show |
5 | 24 | 0.2083 | 23 | c.227 others(44): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79560504 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0015 | 1 | 11 | 0.0909 | 23 | c.344 others(44): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79617917 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19240.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0017a0001c0008t0004 | a0001c0006t0017g0001 a0001c0008t0004g0014 |
2 | 11 | 0.1818 | 23 | c.344 others(44): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79637729 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0019 | 1 | 5 | 0.2000 | 23 | c.344 others(44): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158293 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0206 | 1 | 136 | 0.0074 | 23 | c.927 others(42): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158998 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 |
a0001 | a0001c0003 | a0001c0003t0028a0001c0003t0051 | a0001c0003t0028g0136 a0001c0003t0051g0120 |
2 | 55 | 0.0364 | 23 | c.927 others(42): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NSD1_chr5_177128773_177305213 | 177158998 | T | TTATATAT others(16): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0013 | a0004c0013t0020 | a0004c0013t0020g0101 | 1 | 54 | 0.0185 | 23 | c.927 others(42): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |