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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPC1_chr18_23526442_23591506 | 23550479 | C | CTTCTTTT others(16): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 378 | 0.0027 | 23 | c.165 others(42): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 10/24 | chr18 | TogoVar | ||||||
NPEPPS_chr17_47526108_47628276 | 47538202 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18960.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0122a0001c0001t0002g0172a0001c0001t0003g0042 | 3 | 342 | 0.0088 | 23 | c.255 others(40): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPEPPS_chr17_47526108_47628276 | 47594629 | A | ATGTTATG others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0338 | 1 | 342 | 0.0029 | 23 | c.142 others(42): Show |
NPEPPS | ENSG00000141279.18 | transcript | ENST00000322157.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NPFFR2_chr4_72027000_72153305 | 72070561 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 344 | 0.0029 | 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 | 208 | 0.0048 | 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 | 208 | 0.0048 | 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 | 208 | 0.0048 | 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 | a0023 | a0023c0015 | a0023c0015t0001 | a0023c0015t0001g0053 | 1 | 430 | 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 | a0135 | a0135c0052 | a0135c0052t0021 | a0135c0052t0021g0041 | 1 | 428 | 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 | a0026 | a0026c0040 | a0026c0040t0001 | a0026c0040t0001g0078 | 1 | 145 | 0.0069 | 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 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0073 | 1 | 261 | 0.0038 | 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 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0005a0002c0002t0005a0004c0004t0005 | a0001c0001t0005g0024a0002c0002t0005g0023a0002c0002t0005g0025others(8): Show | 11 | 261 | 0.0422 | 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 | a0002c0003t0002g0300 | 1 | 351 | 0.0029 | 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 | 320 | 0.0031 | 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 | a0001c0001t0005g0079a0001c0001t0005g0142a0001c0001t0005g0152others(21): Show | 24 | 320 | 0.0750 | 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 | a0001c0001t0018 | a0001c0001t0018g0275 | 1 | 350 | 0.0029 | 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 | 260 | 0.0039 | 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 | a0001c0001t0001g0030a0001c0001t0005g0271 | 2 | 342 | 0.0059 | 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 | 322 | 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 | a0001c0001t0001g0039a0001c0001t0001g0330a0001c0001t0001g0335others(2): Show | 5 | 430 | 0.0116 | 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 | 294 | 0.0034 | 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 | a0001c0001t0003g0180a0001c0001t0003g0181a0001c0001t0003g0182others(25): Show | 28 | 266 | 0.1053 | 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 | 170 | 0.0059 | 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 | 170 | 0.0059 | 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 | a0001c0001t0001g0186 | 1 | 278 | 0.0036 | 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 | a0002c0002t0008a0002c0002t0015a0002c0002t0020 | a0002c0002t0008g0116a0002c0002t0015g0115a0002c0002t0020g0061 | 3 | 356 | 0.0084 | 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 | 286 | 0.0035 | 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 | 286 | 0.0035 | 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(173): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(41): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(173): Show | 176 | 208 | 0.8462 | 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 | a0001c0001t0010a0001c0001t0023a0001c0001t0024others(47): Show | a0001c0001t0010g0263a0001c0001t0023g0260a0001c0001t0024g0258others(109): Show | 119 | 344 | 0.3459 | 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 | a0001c0001t0002g0066a0001c0001t0002g0150a0001c0002t0004g0308 | 3 | 384 | 0.0078 | 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 | a0001c0001t0001g0134a0001c0001t0001g0160a0001c0001t0001g0200others(3): Show | 6 | 384 | 0.0156 | 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 | a0001c0001t0002g0087 | 1 | 384 | 0.0026 | 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 | 384 | 0.0026 | 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 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0168a0004c0005t0092 | a0001c0001t0168g0135a0004c0005t0092g0113 | 2 | 244 | 0.0082 | 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 | a0001c0001t0001g0124a0001c0001t0001g0174a0002c0002t0003g0095 | 3 | 188 | 0.0160 | 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 | 398 | 0.0025 | 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 | a0001c0005t0003g0033 | 1 | 262 | 0.0038 | 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 | a0002c0004t0002g0041 | 1 | 262 | 0.0038 | 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 | a0001c0003t0003g0071a0001c0007t0004g0024 | 2 | 262 | 0.0076 | 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 | a0001c0001t0006g0054a0001c0001t0011g0069a0001c0001t0014g0022others(3): Show | 6 | 116 | 0.0517 | 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 | a0001c0001t0001g0036a0001c0001t0036g0062a0001c0002t0003g0099 | 3 | 116 | 0.0259 | 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 | a0001c0001t0001g0040 | 1 | 116 | 0.0086 | 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 | a0001c0001t0024g0014 | 1 | 116 | 0.0086 | 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 | a0001c0001t0059g0060 | 1 | 116 | 0.0086 | 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 | a0001c0002t0054g0092 | 1 | 116 | 0.0086 | 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 | a0001c0001t0002g0018a0001c0001t0008g0008a0001c0006t0017g0001others(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 | 24 | 0.0417 | 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 | a0001c0006t0017g0001a0001c0008t0004g0014 | 2 | 24 | 0.0833 | 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 | 24 | 0.0417 | 23 | c.344 others(44): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |