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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOP14_chr4_2932936_2968406 | 2950111 | C | CCTCTCTG others(6): Show |
frameshift_variant | HIGH | NA18965.hp1 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0249 | 1 | 422 | 0.0024 | 13 | c.110 others(22): Show |
p.Asp others(5): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 8/18 | 1191/3556 | 1104/2574 | 368/857 | chr4 | TogoVar | ||
NOP53_chr19_47740546_47762058 | 47746979 | AGAGGCCC others(21): Show |
A | frameshift_variant | HIGH | NA18965.hp2 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0092 | 1 | 404 | 0.0025 | -28 | c.238 others(35): Show |
p.Glu others(4): Show |
NOP53 | ENSG00000105373.19 | transcript | ENST00000246802.10 | protein_coding | 2/13 | 252/1504 | 238/1437 | 80/478 | chr19 | TogoVar | ||
NOS2_chr17_27751766_27805529 | 27798808 | ATCTCTAT others(12): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18987.hp1 | a0010 | a0010c0030 | a0010c0030t0011 | a0010c0030t0011g0220 | 1 | 402 | 0.0025 | -19 | c.-18 others(24): Show |
p.Met others(3): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 2/27 | 265/4206 | 1/3462 | 1/1153 | chr17 | TogoVar | ||
NOSIP_chr19_49550468_49585556 | 49555817 | A | AC | frameshift_variant | HIGH | HG00733.hp2 HG00741.hp1 HG00741.hp2 others(9): Show |
a0000 | a0000c0003 | a0000c0003t0001a0000c0003t0002 | a0000c0003t0001g0105a0000c0003t0001g0106a0000c0003t0001g0113others(9): Show | 12 | 304 | 0.0395 | 1 | c.839 others(4): Show |
p.Thr others(5): Show |
NOSIP | ENSG00000142546.14 | transcript | ENST00000596358.6 | protein_coding | 9/9 | 882/1232 | 839/906 | 280/301 | chr19 | TogoVar | ||
NOTUM_chr17_81947507_81966187 | 81960791 | T | TCGGTCCG others(27): Show |
frameshift_variant | HIGH | HG02895.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0123 | 1 | 384 | 0.0026 | 34 | c.118 others(41): Show |
p.Glu others(4): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 1/11 | 396/2223 | 118/1491 | 40/496 | chr17 | TogoVar | ||
NOTUM_chr17_81947507_81966187 | 81960859 | GGCGCAGT others(15): Show |
G | frameshift_variant | HIGH | HG01169.hp2 | a0011 | a0011c0008 | a0011c0008t0016 | a0011c0008t0016g0126 | 1 | 384 | 0.0026 | -22 | c.29_ others(27): Show |
p.Leu others(4): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 1/11 | 328/2223 | 29/1491 | 10/496 | chr17 | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100843958 | A | AT | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.168 others(5): Show |
p.Asn others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1908/2543 | 1688/1695 | 563/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100844032 | T | TC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.161 others(5): Show |
p.Ser others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1834/2543 | 1614/1695 | 538/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100844044 | T | TC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.160 others(5): Show |
p.Thr others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1822/2543 | 1602/1695 | 534/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100870786 | AG | A | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | -1 | c.73d others(3): Show |
p.Leu others(4): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 2/13 | 293/2543 | 73/1695 | 25/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100870813 | AC | A | frameshift_variant others(1): Show |
HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | -1 | c.46d others(3): Show |
p.Val others(4): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 2/13 | 266/2543 | 46/1695 | 16/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100874121 | TA | T | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | -1 | c.18d others(3): Show |
p.Asn others(3): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 1/13 | 238/2543 | 18/1695 | 6/564 | chrX | TogoVar | ||
NPC1_chr18_23526442_23591506 | 23572111 | TTAGTGTC others(45): Show |
T | frameshift_variant | HIGH | HG01346.hp1 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0161 | 1 | 378 | 0.0027 | -52 | c.198 others(59): Show |
p.Phe others(4): Show |
NPC1 | ENSG00000141458.13 | transcript | ENST00000269228.10 | protein_coding | 3/25 | 412/4760 | 198/3837 | 66/1278 | chr18 | TogoVar | ||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0000 | a0000c0002a0000c0024 | a0000c0002t0002a0000c0002t0003a0000c0024t0002 | a0000c0002t0002g0001a0000c0002t0002g0020a0000c0002t0002g0021others(39): Show | 83 | 430 | 0.1930 | -71 | c.960 others(79): Show |
p.Pro others(5): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1030/1084 | 960/1053 | 320/350 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29381892 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG03688.hp2 | a0090 | a0090c0066 | a0090c0066t0004 | a0090c0066t0004g0061 | 1 | 428 | 0.0023 | 13 | c.303 others(22): Show |
p.Pro others(6): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5786/6369 | 3039/3486 | 1013/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29381893 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG02451.hp2 | a0056 | a0056c0149 | a0056c0149t0002 | a0056c0149t0002g0304 | 1 | 428 | 0.0023 | 13 | c.302 others(22): Show |
p.Pro others(6): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5785/6369 | 3038/3486 | 1013/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29381893 | CCCCCGCA others(384): Show |
C | frameshift_variant | HIGH | NA18944.hp2 | a0053 | a0053c0155 | a0053c0155t0001 | a0053c0155t0001g0116 | 1 | 428 | 0.0023 | -391 | c.264 others(9): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5785/6369 | 2648/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382018 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(14): Show |
a0010a0028a0040others(4): Show | a0010c0009a0010c0085a0028c0026others(5): Show | a0010c0009t0004a0010c0009t0022a0010c0085t0004others(6): Show | a0010c0009t0004g0002a0010c0009t0004g0059a0010c0009t0004g0062others(11): Show | 17 | 428 | 0.0397 | 13 | c.291 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5660/6369 | 2913/3486 | 971/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382084 | GGGGAGTG others(118): Show |
G | frameshift_variant | HIGH | NA19076.hp1 | a0071 | a0071c0096 | a0071c0096t0027 | a0071c0096t0027g0316 | 1 | 428 | 0.0023 | -125 | c.272 others(9): Show |
p.Leu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5594/6369 | 2723/3486 | 908/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382102 | T | TGGAAGGT others(132): Show |
frameshift_variant others(1): Show |
HIGH | HG01934.hp1 NA18961.hp2 |
a0096a0097 | a0096c0075a0097c0074 | a0096c0075t0001a0097c0074t0001 | a0096c0075t0001g0182a0097c0074t0001g0161 | 2 | 428 | 0.0047 | 139 | c.282 others(148): Show |
p.Lys others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5576/6369 | 2829/3486 | 943/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0009others(29): Show | a0002c0003a0002c0022a0002c0054others(38): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(48): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(140): Show | 145 | 428 | 0.3388 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382145 | CCCCCGCA others(132): Show |
C | frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(15): Show |
a0010a0028a0040others(5): Show | a0010c0009a0010c0085a0028c0026others(6): Show | a0010c0009t0004a0010c0009t0022a0010c0085t0004others(7): Show | a0010c0009t0004g0002a0010c0009t0004g0059a0010c0009t0004g0062others(12): Show | 18 | 428 | 0.0421 | -139 | c.264 others(9): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5533/6369 | 2648/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382284 | T | TCGGCAGG others(106): Show |
frameshift_variant | HIGH | NA19240.hp2 | a0080 | a0080c0108 | a0080c0108t0014 | a0080c0108t0014g0387 | 1 | 428 | 0.0023 | 113 | c.264 others(122): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5394/6369 | 2647/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382409 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | NA21309.hp1 | a0081 | a0081c0115 | a0081c0115t0002 | a0081c0115t0002g0338 | 1 | 428 | 0.0023 | 13 | c.252 others(22): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5269/6369 | 2522/3486 | 841/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382410 | C | CCCCCGCA others(132): Show |
frameshift_variant | HIGH | NA19240.hp2 | a0080 | a0080c0108 | a0080c0108t0014 | a0080c0108t0014g0387 | 1 | 428 | 0.0023 | 139 | c.252 others(148): Show |
p.Gly others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5268/6369 | 2521/3486 | 841/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382620 | GGAAGGTG others(1000): Show |
G | frameshift_variant | HIGH | NA18962.hp1 | a0094 | a0094c0070 | a0094c0070t0001 | a0094c0070t0001g0080 | 1 | 428 | 0.0023 | -1007 | c.130 others(9): Show |
p.His others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5058/6369 | 1305/3486 | 435/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382661 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0132 | a0132c0152 | a0132c0152t0001 | a0132c0152t0001g0091 | 1 | 428 | 0.0023 | 13 | c.227 others(22): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5017/6369 | 2270/3486 | 757/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383062 | ATCTTGAT others(118): Show |
A | frameshift_variant | HIGH | HG02451.hp2 | a0056 | a0056c0149 | a0056c0149t0002 | a0056c0149t0002g0304 | 1 | 428 | 0.0023 | -125 | c.174 others(9): Show |
p.Thr others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4616/6369 | 1745/3486 | 582/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383165 | G | GC | frameshift_variant | HIGH | HG00673.hp2 HG02027.hp2 HG02074.hp1 others(9): Show |
a0018a0039a0047others(4): Show | a0018c0017a0039c0035a0047c0153others(5): Show | a0018c0017t0001a0039c0035t0001a0047c0153t0001others(5): Show | a0018c0017t0001g0078a0018c0017t0001g0079a0018c0017t0001g0081others(8): Show | 12 | 428 | 0.0280 | 1 | c.176 others(10): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4513/6369 | 1766/3486 | 589/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0009a0026others(12): Show | a0002c0003a0002c0022a0002c0054others(18): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(23): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(69): Show | 72 | 428 | 0.1682 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383290 | GCCCCCGC others(372): Show |
G | frameshift_variant | HIGH | HG03710.hp2 NA18990.hp1 |
a0113a0119 | a0113c0131a0119c0128 | a0113c0131t0001a0119c0128t0001 | a0113c0131t0001g0075a0119c0128t0001g0105 | 2 | 428 | 0.0047 | -379 | c.126 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1263/3486 | 421/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383304 | TCGGCAGT others(106): Show |
T | frameshift_variant | HIGH | HG01175.hp2 | a0057 | a0057c0145 | a0057c0145t0003 | a0057c0145t0003g0362 | 1 | 428 | 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 | ||
NPIPB11_chr16_29376310_29411711 | 29383416 | GCCCCCGC others(120): Show |
G | frameshift_variant | HIGH | HG02027.hp2 HG02074.hp1 HG03831.hp2 others(1): Show |
a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0078a0018c0017t0001g0079a0018c0017t0001g0081others(1): Show | 4 | 428 | 0.0094 | -127 | c.138 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4262/6369 | 1389/3486 | 463/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383416 | GCCCCCGC others(246): Show |
G | frameshift_variant | HIGH | NA19062.hp1 | a0120 | a0120c0129 | a0120c0129t0002 | a0120c0129t0002g0329 | 1 | 428 | 0.0023 | -253 | c.126 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4262/6369 | 1263/3486 | 421/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29403642 | TGCTCAAG others(40): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19043.hp2 | a0135 | a0135c0052 | a0135c0052t0021 | a0135c0052t0021g0041 | 1 | 428 | 0.0023 | -47 | c.114 others(57): Show |
p.Arg others(4): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 2/8 | 114/3486 | 38/1161 | chr16 | TogoVar | |||
NPIPB12_chr16_29478534_29511408 | 29484349 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG01981.hp1 HG02004.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0014a0004c0004t0002g0015 | 2 | 21 | 0.0952 | 13 | c.211 others(22): Show |
p.Pro others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2789/3605 | 2126/2787 | 709/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484475 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG01346.hp1 HG01981.hp1 HG02004.hp2 others(3): Show |
a0003a0004a0007 | a0003c0003a0003c0008a0004c0004others(1): Show | a0003c0003t0001a0003c0008t0001a0004c0004t0002others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0002a0003c0008t0001g0013others(3): Show | 6 | 21 | 0.2857 | -13 | c.198 others(22): Show |
p.Glu others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2663/3605 | 1988/2787 | 663/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484614 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG01346.hp1 NA18972.hp2 NA18994.hp2 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0001a0003c0008t0001 | a0003c0003t0001g0001a0003c0003t0001g0002a0003c0008t0001g0013 | 3 | 21 | 0.1429 | 13 | c.184 others(22): Show |
p.Gly others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2524/3605 | 1861/2787 | 621/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484628 | CGGCAGGT others(478): Show |
C | frameshift_variant | HIGH | HG00140.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0007 | 1 | 21 | 0.0476 | -485 | c.136 others(9): Show |
p.Phe others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2510/3605 | 1363/2787 | 455/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484880 | CGGCAGGT others(226): Show |
C | frameshift_variant | HIGH | NA18982.hp2 | a0007 | a0007c0013 | a0007c0013t0003 | a0007c0013t0003g0005 | 1 | 21 | 0.0476 | -233 | c.136 others(9): Show |
p.Phe others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2258/3605 | 1363/2787 | 455/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29484988 | GCGGAATC others(12): Show |
G | frameshift_variant | HIGH | HG01981.hp1 HG02004.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0014a0004c0004t0002g0015 | 2 | 21 | 0.0952 | -19 | c.146 others(28): Show |
p.Leu others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2150/3605 | 1469/2787 | 490/928 | chr16 | TogoVar | ||
NPIPB12_chr16_29478534_29511408 | 29485113 | A | AGCGGCCC others(12): Show |
frameshift_variant | HIGH | HG01981.hp1 HG02004.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0014a0004c0004t0002g0015 | 2 | 21 | 0.0952 | 19 | c.136 others(28): Show |
p.Phe others(5): Show |
NPIPB12 | ENSG00000169203.18 | transcript | ENST00000550665.6 | protein_coding | 8/8 | 2025/3605 | 1362/2787 | 454/928 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223815 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG01099.hp2 | a0059 | a0059c0073 | a0059c0073t0002 | a0059c0073t0002g0132 | 1 | 145 | 0.0069 | 13 | c.261 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5373/6292 | 2630/3417 | 877/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223828 | TCGGCAGG others(232): Show |
T | frameshift_variant | HIGH | NA19005.hp2 | a0045 | a0045c0057 | a0045c0057t0003 | a0045c0057t0003g0093 | 1 | 145 | 0.0069 | -239 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5360/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223941 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp2 HG00639.hp1 HG00741.hp2 others(5): Show |
a0007a0015a0016others(2): Show | a0007c0017a0007c0072a0007c0074others(4): Show | a0007c0017t0002a0007c0072t0002a0007c0074t0003others(4): Show | a0007c0017t0002g0124a0007c0017t0002g0133a0007c0072t0002g0125others(5): Show | 8 | 145 | 0.0552 | 13 | c.249 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5247/6292 | 2504/3417 | 835/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0027a0038others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(28): Show | 31 | 145 | 0.2138 | -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 | ||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0002a0003a0004others(28): Show | a0002c0003a0002c0007a0002c0008others(39): Show | a0002c0003t0001a0002c0007t0007a0002c0007t0015others(50): Show | a0002c0003t0001g0059a0002c0003t0001g0061a0002c0003t0001g0068others(81): Show | 84 | 145 | 0.5793 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0004a0001c0018others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(72): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(120): Show | 123 | 145 | 0.8483 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar |