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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPIPB11_chr16_29376310_29411711 | 29384075 | GGAGGTGT others(50): Show |
G | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(85): Show |
a0003a0016a0027others(27): Show | a0003c0002a0003c0130a0003c0160others(30): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0006others(34): Show | a0003c0002t0001g0008a0003c0002t0001g0083a0003c0002t0001g0095others(81): Show | 88 | 428 | 0.2056 | -57 | c.800 others(64): Show |
p.Leu others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 3603/6369 | 800/3486 | 267/1161 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223419 | GGCTGAGG others(119): Show |
G | disruptive_inframe_deletion | MODERATE | HG00323.hp2 NA18951.hp1 NA18952.hp2 others(2): Show |
a0008a0028a0029 | a0008c0009a0028c0066a0029c0065 | a0008c0009t0005a0028c0066t0005a0029c0065t0005 | a0008c0009t0005g0089a0008c0009t0005g0106a0008c0009t0005g0111others(2): Show | 5 | 145 | 0.0345 | -126 | c.290 others(9): Show |
p.Asp others(14): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5769/6292 | 2901/3417 | 967/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224080 | TCGGCAGG others(245): Show |
T | disruptive_inframe_deletion | MODERATE | HG02074.hp2 | a0042 | a0042c0053 | a0042c0053t0004 | a0042c0053t0004g0004 | 1 | 145 | 0.0069 | -252 | c.211 others(9): Show |
p.Gly others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5108/6292 | 2114/3417 | 705/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224982 | TGCTGAGG others(131): Show |
T | disruptive_inframe_deletion | MODERATE | HG02056.hp2 | a0038 | a0038c0022 | a0038c0022t0022 | a0038c0022t0022g0143 | 1 | 145 | 0.0069 | -138 | c.132 others(9): Show |
p.Pro others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4206/6292 | 1326/3417 | 442/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30225246 | AGCTGAGG others(107): Show |
A | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(46): Show |
a0001a0003a0041others(6): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(21): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(46): Show | 49 | 145 | 0.3379 | -114 | c.108 others(9): Show |
p.Asp others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3942/6292 | 1086/3417 | 362/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30225360 | CGCTGAGG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0026 | a0026c0040 | a0026c0040t0001 | a0026c0040t0001g0078 | 1 | 145 | 0.0069 | -12 | c.107 others(21): Show |
p.Pro others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3828/6292 | 1074/3417 | 358/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30225384 | AGCTGAGG others(107): Show |
A | disruptive_inframe_deletion | MODERATE | HG03195.hp1 | a0013 | a0013c0069 | a0013c0069t0001 | a0013c0069t0001g0034 | 1 | 145 | 0.0069 | -114 | c.948 others(8): Show |
p.Asp others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3804/6292 | 948/3417 | 316/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30225417 | GGGAGGTG others(50): Show |
G | disruptive_inframe_deletion | MODERATE | NA19079.hp1 | a0055 | a0055c0061 | a0055c0061t0001 | a0055c0061t0001g0050 | 1 | 145 | 0.0069 | -57 | c.972 others(65): Show |
p.Glu others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3771/6292 | 972/3417 | 324/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30225531 | AGGAGGTG others(50): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG00741.hp2 HG01099.hp2 others(7): Show |
a0007a0009a0016others(3): Show | a0007c0017a0007c0072a0007c0074others(6): Show | a0007c0017t0002a0007c0072t0002a0007c0074t0003others(6): Show | a0007c0017t0002g0124a0007c0017t0002g0133a0007c0072t0002g0125others(7): Show | 10 | 145 | 0.0690 | -57 | c.858 others(64): Show |
p.Glu others(13): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3657/6292 | 858/3417 | 286/1138 | chr16 | TogoVar | ||
NPIPB15_chr16_74371306_74397115 | 74391657 | GGTCCCTC others(56): Show |
G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 HG02965.hp2 |
a0010 | a0010c0010 | a0010c0010t0011 | a0010c0010t0011g0078a0010c0010t0011g0159 | 2 | 261 | 0.0077 | -63 | c.957 others(71): Show |
p.Lys others(13): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 8/8 | 2020/2430 | 957/1332 | 319/443 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB15_chr16_74371306_74397115 | 74391723 | CCCTCTTC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(38): Show |
a0004 | a0004c0004a0004c0009 | a0004c0004t0003a0004c0004t0005a0004c0004t0006others(2): Show | a0004c0004t0003g0003a0004c0004t0003g0004a0004c0004t0003g0009others(30): Show | 41 | 261 | 0.1571 | -15 | c.990 others(23): Show |
p.Pro others(13): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 8/8 | 2053/2430 | 990/1332 | 330/443 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB2_chr16_11922373_11947045 | 11927631 | AGCTGAGG others(50): Show |
A | disruptive_inframe_deletion | MODERATE | HG02630.hp2 HG02723.hp2 HG02735.hp1 others(2): Show |
a0001a0002 | a0001c0033a0001c0039a0002c0015others(1): Show | a0001c0033t0000a0001c0039t0000a0002c0015t0000others(1): Show | a0001c0033t0000g0054a0001c0039t0000g0103a0002c0015t0000g0256others(2): Show | 5 | 414 | 0.0121 | -57 | c.879 others(64): Show |
p.Asp others(13): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 8/8 | 935/1194 | 879/1194 | 293/397 | chr16 | TogoVar | ||
NPIPB2_chr16_11922373_11947045 | 11933709 | AGCCCTTG others(3): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG02135.hp1 | a0010 | a0010c0030 | a0010c0030t0000 | a0010c0030t0000g0313 | 1 | 414 | 0.0024 | -10 | c.293 others(19): Show |
p.Gly others(17): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 295/1194 | 293/1194 | 98/397 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21834805 | GTCACCGA others(80): Show |
G | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01175.hp2 HG01243.hp2 others(3): Show |
a0011a0055a0065 | a0011c0012a0055c0057a0065c0054 | a0011c0012t0001a0055c0057t0001a0065c0054t0001 | a0011c0012t0001g0100a0011c0012t0001g0102a0011c0012t0001g0103others(3): Show | 6 | 204 | 0.0294 | -87 | c.349 others(96): Show |
p.Val others(15): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3796/4020 | 3495/3669 | 1165/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835108 | GGCTGAGG others(119): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00642.hp2 HG00738.hp1 others(42): Show |
a0001a0003a0017others(9): Show | a0001c0002a0001c0008a0003c0010others(14): Show | a0001c0002t0001a0001c0008t0001a0003c0010t0001others(14): Show | a0001c0002t0001g0004a0001c0002t0001g0101a0001c0002t0001g0104others(42): Show | 45 | 204 | 0.2206 | -126 | c.315 others(9): Show |
p.Asp others(15): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3493/4020 | 3153/3669 | 1051/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835108 | GGCTGAGG others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG01074.hp1 HG01099.hp2 others(18): Show |
a0010a0011a0012others(8): Show | a0010c0011a0011c0012a0012c0013others(8): Show | a0010c0011t0001a0011c0012t0001a0012c0013t0001others(8): Show | a0010c0011t0001g0002a0010c0011t0001g0138a0010c0011t0001g0163others(17): Show | 21 | 204 | 0.1029 | -252 | c.302 others(9): Show |
p.Asp others(15): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3493/4020 | 3027/3669 | 1009/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835108 | GGCTGAGG others(371): Show |
G | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(55): Show |
a0002a0005a0006others(18): Show | a0002c0001a0005c0003a0006c0005others(19): Show | a0002c0001t0001a0005c0003t0001a0006c0005t0001others(19): Show | a0002c0001t0001g0006a0002c0001t0001g0015a0002c0001t0001g0016others(55): Show | 58 | 204 | 0.2843 | -378 | c.290 others(9): Show |
p.Asp others(14): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3493/4020 | 2901/3669 | 967/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835108 | GGCTGAGG others(497): Show |
G | disruptive_inframe_deletion | MODERATE | HG01081.hp2 HG01256.hp1 HG01257.hp2 others(3): Show |
a0020a0021a0036others(1): Show | a0020c0019a0021c0025a0036c0073others(1): Show | a0020c0019t0001a0021c0025t0001a0036c0073t0001others(1): Show | a0020c0019t0001g0069a0020c0019t0001g0070a0021c0025t0001g0039others(3): Show | 6 | 204 | 0.0294 | -504 | c.277 others(9): Show |
p.Asp others(14): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3493/4020 | 2775/3669 | 925/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835517 | TCGGCAGG others(497): Show |
T | disruptive_inframe_deletion | MODERATE | HG00621.hp1 HG00621.hp2 HG01975.hp2 others(5): Show |
a0009a0023a0046 | a0009c0009a0023c0024a0046c0040 | a0009c0009t0001a0023c0024t0001a0046c0040t0001 | a0009c0009t0001g0121a0009c0009t0001g0135a0009c0009t0001g0179others(5): Show | 8 | 204 | 0.0392 | -504 | c.236 others(9): Show |
p.Gly others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3084/4020 | 2366/3669 | 789/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835643 | TCGGCAGG others(371): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG02055.hp2 HG03041.hp1 |
a0022a0067 | a0022c0023a0067c0083 | a0022c0023t0001a0067c0083t0001 | a0022c0023t0001g0063a0022c0023t0001g0064a0067c0083t0001g0037 | 3 | 204 | 0.0147 | -378 | c.236 others(9): Show |
p.Gly others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2958/4020 | 2366/3669 | 789/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835669 | TGCTGAGG others(131): Show |
T | disruptive_inframe_deletion | MODERATE | HG03492.hp1 HG03710.hp2 |
a0052a0072 | a0052c0062a0072c0061 | a0052c0062t0001a0072c0061t0001 | a0052c0062t0001g0193a0072c0061t0001g0185 | 2 | 204 | 0.0098 | -138 | c.258 others(9): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2932/4020 | 2580/3669 | 860/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21835895 | TCCCCGCA others(119): Show |
T | disruptive_inframe_deletion | MODERATE | HG01257.hp1 | a0037 | a0037c0036 | a0037c0036t0001 | a0037c0036t0001g0137 | 1 | 204 | 0.0049 | -126 | c.236 others(9): Show |
p.Gly others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2706/4020 | 2366/3669 | 789/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836536 | GTTATCAT others(119): Show |
G | disruptive_inframe_deletion | MODERATE | HG00544.hp2 HG00642.hp2 HG00738.hp1 others(43): Show |
a0001a0007a0010others(12): Show | a0001c0002a0001c0008a0007c0006others(13): Show | a0001c0002t0001a0001c0008t0001a0007c0006t0001others(13): Show | a0001c0002t0001g0004a0001c0002t0001g0101a0001c0002t0001g0104others(42): Show | 46 | 204 | 0.2255 | -126 | c.172 others(9): Show |
p.Ile others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2065/4020 | 1725/3669 | 575/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836536 | GTTATCAT others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG01496.hp1 NA18980.hp1 |
a0024a0043 | a0024c0081a0043c0033 | a0024c0081t0001a0043c0033t0001 | a0024c0081t0001g0024a0043c0033t0001g0125 | 2 | 204 | 0.0098 | -252 | c.159 others(9): Show |
p.Ile others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2065/4020 | 1599/3669 | 533/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836536 | GTTATCAT others(497): Show |
G | disruptive_inframe_deletion | MODERATE | NA19068.hp2 | a0045 | a0045c0031 | a0045c0031t0001 | a0045c0031t0001g0113 | 1 | 204 | 0.0049 | -504 | c.134 others(9): Show |
p.Ile others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2065/4020 | 1347/3669 | 449/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836647 | GGCAGGTG others(371): Show |
G | disruptive_inframe_deletion | MODERATE | HG00597.hp2 HG01123.hp1 HG01255.hp2 others(19): Show |
a0005a0009a0044others(5): Show | a0005c0003a0009c0009a0044c0032others(5): Show | a0005c0003t0001a0009c0009t0001a0044c0032t0001others(5): Show | a0005c0003t0001g0116a0005c0003t0001g0120a0005c0003t0001g0131others(19): Show | 22 | 204 | 0.1078 | -378 | c.136 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1954/4020 | 1362/3669 | 454/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836773 | GGCAGGTG others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00642.hp1 HG02155.hp2 HG02451.hp2 others(3): Show |
a0024a0027a0049others(3): Show | a0024c0076a0027c0069a0049c0043others(3): Show | a0024c0076t0001a0027c0069t0001a0049c0043t0001others(3): Show | a0024c0076t0001g0038a0027c0069t0001g0014a0049c0043t0001g0011others(3): Show | 6 | 204 | 0.0294 | -252 | c.136 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1828/4020 | 1362/3669 | 454/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836899 | GGCAGGTG others(119): Show |
G | disruptive_inframe_deletion | MODERATE | HG01975.hp1 HG02027.hp2 HG02572.hp1 others(5): Show |
a0016a0033a0048others(4): Show | a0016c0020a0033c0072a0048c0044others(4): Show | a0016c0020t0001a0033c0072t0001a0048c0044t0001others(4): Show | a0016c0020t0001g0010a0016c0020t0001g0013a0033c0072t0001g0003others(5): Show | 8 | 204 | 0.0392 | -126 | c.136 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1702/4020 | 1362/3669 | 454/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21836977 | CTTGAGAT others(251): Show |
C | disruptive_inframe_deletion | MODERATE | HG02559.hp1 | a0047 | a0047c0042 | a0047c0042t0002 | a0047c0042t0002g0112 | 1 | 204 | 0.0049 | -258 | c.115 others(9): Show |
p.Asn others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1624/4020 | 1152/3669 | 384/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21837025 | AGCAGGTG others(119): Show |
A | disruptive_inframe_deletion | MODERATE | HG03492.hp1 HG03710.hp2 |
a0052a0072 | a0052c0062a0072c0061 | a0052c0062t0001a0072c0061t0001 | a0052c0062t0001g0193a0072c0061t0001g0185 | 2 | 204 | 0.0098 | -126 | c.123 others(9): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1576/4020 | 1236/3669 | 412/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21837415 | AGGAGGTG others(50): Show |
A | disruptive_inframe_deletion | MODERATE | HG00423.hp2 | a0035 | a0035c0065 | a0035c0065t0001 | a0035c0065t0001g0158 | 1 | 204 | 0.0049 | -57 | c.915 others(64): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1186/4020 | 915/3669 | 305/1222 | chr16 | TogoVar | ||
NPIPB4_chr16_21829582_21862756 | 21837415 | AGGAGGTG others(107): Show |
A | disruptive_inframe_deletion | MODERATE | NA18964.hp2 NA19063.hp1 |
a0088a0089 | a0088c0098a0089c0099 | a0088c0098t0001a0089c0099t0001 | a0088c0098t0001g0097a0089c0099t0001g0098 | 2 | 204 | 0.0098 | -114 | c.858 others(7): Show |
p.Glu others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1186/4020 | 858/3669 | 286/1222 | chr16 | TogoVar | ||
NPIPB5_chr16_22505891_22541535 | 22534219 | CGAGCGTC others(119): Show |
C | disruptive_inframe_deletion | MODERATE | NA18948.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0027 | 1 | 47 | 0.0213 | -126 | c.136 others(9): Show |
p.Glu others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4273/6463 | 1362/3402 | 454/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22534296 | TTCCACCC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | NA18522.hp1 | a0003 | a0003c0033 | a0003c0033t0017 | a0003c0033t0017g0004 | 1 | 47 | 0.0213 | -12 | c.132 others(21): Show |
p.Pro others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4237/6463 | 1326/3402 | 442/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22534662 | TTCCACCC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG00621.hp1 HG02040.hp2 |
a0022a0029 | a0022c0029a0029c0003 | a0022c0029t0002a0029c0003t0010 | a0022c0029t0002g0006a0029c0003t0010g0043 | 2 | 47 | 0.0426 | -12 | c.169 others(21): Show |
p.Pro others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4603/6463 | 1692/3402 | 564/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22534852 | GATA | G | disruptive_inframe_deletion | MODERATE | HG01496.hp1 NA20300.hp1 |
a0016a0033 | a0016c0006a0033c0031 | a0016c0006t0016a0033c0031t0013 | a0016c0006t0016g0039a0033c0031t0013g0040 | 2 | 47 | 0.0426 | -3 | c.187 others(12): Show |
p.Ile others(6): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4783/6463 | 1872/3402 | 624/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22534970 | GAGCGGAT others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG03927.hp2 | a0010 | a0010c0032 | a0010c0032t0003 | a0010c0032t0003g0015 | 1 | 47 | 0.0213 | -252 | c.228 others(9): Show |
p.Phe others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5197/6463 | 2286/3402 | 762/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22534978 | GATA | G | disruptive_inframe_deletion | MODERATE | HG02040.hp2 HG02155.hp1 |
a0022a0026 | a0022c0029a0026c0022 | a0022c0029t0002a0026c0022t0009 | a0022c0029t0002g0006a0026c0022t0009g0002 | 2 | 47 | 0.0426 | -3 | c.199 others(12): Show |
p.Ile others(6): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4909/6463 | 1998/3402 | 666/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22535584 | GGAGCGTC others(245): Show |
G | disruptive_inframe_deletion | MODERATE | HG00621.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0034 | 1 | 47 | 0.0213 | -252 | c.276 others(9): Show |
p.Asp others(14): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5671/6463 | 2760/3402 | 920/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB5_chr16_22505891_22541535 | 22535787 | TTCCACCC others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01975.hp2 HG01981.hp2 |
a0031a0032 | a0031c0035a0032c0034 | a0031c0035t0008a0032c0034t0007 | a0031c0035t0008g0013a0032c0034t0007g0011 | 2 | 47 | 0.0426 | -12 | c.281 others(21): Show |
p.Pro others(13): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5728/6463 | 2817/3402 | 939/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB6_chr16_28337517_28368508 | 28342671 | CGCCTCTT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01167.hp1 HG01169.hp2 |
a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0003 | 3 | 361 | 0.0083 | -42 | c.117 others(51): Show |
p.Gln others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1737/1892 | 1172/1278 | 391/425 | chr16 | TogoVar | ||
NPIPB6_chr16_28337517_28368508 | 28342727 | GGGCGATT others(35): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(51): Show |
a0002a0006a0008others(3): Show | a0002c0002a0006c0007a0008c0011others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(5): Show | a0002c0002t0001g0166a0002c0002t0001g0167a0002c0002t0002g0017others(45): Show | 54 | 361 | 0.1496 | -42 | c.111 others(51): Show |
p.Lys others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1681/1892 | 1116/1278 | 372/425 | chr16 | TogoVar | ||
NPIPB6_chr16_28337517_28368508 | 28342730 | CGATTGTT others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(87): Show |
a0003a0004a0005others(5): Show | a0003c0003a0004c0004a0005c0005others(6): Show | a0003c0003t0001a0003c0003t0002a0004c0004t0002others(8): Show | a0003c0003t0001g0220a0003c0003t0002g0221a0003c0003t0002g0248others(85): Show | 90 | 361 | 0.2493 | -42 | c.111 others(51): Show |
p.Pro others(13): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 8/8 | 1678/1892 | 1113/1278 | 371/425 | chr16 | TogoVar | ||
NPIPB7_chr16_28451329_28477336 | 28456634 | GAGATTAT others(56): Show |
G | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00544.hp1 HG02083.hp1 others(29): Show |
a0004a0014a0018others(4): Show | a0004c0004a0014c0017a0018c0021others(4): Show | a0004c0004t0001a0004c0004t0050a0004c0004t0051others(7): Show | a0004c0004t0001g0001a0004c0004t0001g0190a0004c0004t0001g0203others(21): Show | 32 | 382 | 0.0838 | -63 | c.972 others(71): Show |
p.Lys others(13): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 2932/3238 | 972/1245 | 324/414 | chr16 | TogoVar | ||
NPIPB8_chr16_28633065_28663744 | 28658252 | TCTTCCAC others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG03486.hp1 NA18968.hp2 NA18980.hp1 others(2): Show |
a0013a0020a0026others(1): Show | a0013c0040a0013c0042a0020c0047others(2): Show | a0013c0040t0001a0013c0042t0001a0020c0047t0001others(2): Show | a0013c0040t0001g0109a0013c0042t0001g0327a0020c0047t0001g0215others(2): Show | 5 | 351 | 0.0143 | -63 | c.102 others(72): Show |
p.Lys others(13): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1150/1537 | 1026/1299 | 342/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPIPB9_chr16_28746787_28777864 | 28772377 | TCTTCCAC others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(90): Show |
a0001a0003a0008others(7): Show | a0001c0001a0001c0004a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(85): Show | 93 | 179 | 0.5196 | -63 | c.102 others(72): Show |
p.Lys others(13): Show |
NPIPB9 | ENSG00000196993.9 | transcript | ENST00000357796.8 | protein_coding | 7/7 | 1712/2094 | 1026/1299 | 342/432 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
NPM2_chr8_22019134_22041897 | 22034158 | GGAGGAA | G | disruptive_inframe_deletion | MODERATE | HG02818.hp1 HG03453.hp2 NA20129.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0208a0004c0004t0002g0209a0004c0004t0002g0210 | 3 | 434 | 0.0069 | -6 | c.429 others(13): Show |
p.Glu others(13): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 7/10 | 1059/1490 | 429/645 | 143/214 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
NPVF_chr7_25219570_25233486 | 25226950 | TTAA | T | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(60): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003a0003c0003t0003g0018a0003c0003t0003g0033others(2): Show | 63 | 450 | 0.1400 | -3 | c.212 others(10): Show |
p.Ile others(5): Show |
NPVF | ENSG00000105954.2 | transcript | ENST00000222674.2 | protein_coding | 2/3 | 261/1190 | 212/591 | 71/196 | chr7 | TogoVar | ||
NRDC_chr1_51784210_51883727 | 51840391 | ATCT | A | disruptive_inframe_deletion | MODERATE | HG00544.hp1 HG00558.hp1 HG00642.hp2 others(101): Show |
a0002a0004a0005 | a0002c0001a0002c0004a0002c0007others(7): Show | a0002c0001t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0001t0001g0110a0002c0001t0001g0113a0002c0001t0001g0114others(101): Show | 104 | 244 | 0.4262 | -3 | c.462 others(10): Show |
p.Glu others(6): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 2/31 | 576/3594 | 462/3456 | 154/1151 | chr1 | TogoVar | ||
NRG2_chr5_139841781_140048299 | 139848487 | CCCGGGT | C | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01081.hp2 HG01167.hp2 others(30): Show |
a0002a0009 | a0002c0002a0002c0007a0002c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0017a0002c0002t0001g0085a0002c0002t0002g0001others(29): Show | 33 | 188 | 0.1755 | -6 | c.197 others(15): Show |
p.Pro others(13): Show |
NRG2 | ENSG00000158458.21 | transcript | ENST00000361474.6 | protein_coding | 10/10 | 2212/3919 | 1977/2553 | 659/850 | chr5 | TogoVar |