JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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	status	chr	external
NPIPB12_chr16_29478534_29511408	29484181	A A	AGAAGGTG others(119): Show AGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp1 HG01978.hp2 HG02004.hp1 others(2): Show HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18944.hp1 NA18972.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0009 a0009c0011 a0001c0002 a0001c0009 a0009c0011	a0001c0002t0001 a0001c0009t0001 a0009c0011t0001 a0001c0002t0001 a0001c0009t0001 a0009c0011t0001	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(2): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0009t0001g0006 a0009c0011t0001g0009	5	21	0.2381	126	c.216 others(135): Show c.2169_2294dupCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTC	p.Ser others(139): Show p.Ser765_Glu766insGluArgGlnLeuThrProLeuProProSerAl aProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgG lyProLeuProProSerAlaAspAspAsnLeuLysThrProSer	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2957/3605	2294/2787	765/928		chr16	TogoVar
NPIPB12_chr16_29478534_29511408	29484457	C C	CGCTGAGG others(119): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18944.hp2 NA18994.hp1 NA18944.hp2 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0003 a0001c0006t0001g0004 a0001c0005t0001g0003 a0001c0006t0001g0004	2	21	0.0952	126	c.201 others(135): Show c.2018_2019insAGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGC	p.Ala others(139): Show p.Ala673_Asp674insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIleL ysThrProAlaGluArgLeuArgGlyProLeuProProSerAla	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2681/3605	2018/2787	673/928		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30223419	G G	GGCTGAGG others(245): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02015.hp1 HG02015.hp1	a0034 a0034	a0034c0048 a0034c0048	a0034c0048t0007 a0034c0048t0007	a0034c0048t0007g0026 a0034c0048t0007g0026	1	145	0.0069	252	c.302 others(261): Show c.3026_3027insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAAT CTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGC	p.Ala others(267): Show p.Ala1009_Asp1010insAspAspAsnLeuLysThrProSerGluArg GlnLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIl eLysThrProAlaGluArgLeuArgGlyProLeuProProSerAlaAspA spAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProProSer AlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuAr gGlyProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	5769/6292	3026/3417	1009/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224775	G G	GGAAGGTG others(119): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGATGCTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG06807.hp2 HG06807.hp2	a0030 a0030	a0030c0064 a0030c0064	a0030c0064t0021 a0030c0064t0021	a0030c0064t0021g0142 a0030c0064t0021g0142	1	145	0.0069	126	c.167 others(135): Show c.1670_1671insTGAGCATCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTC	p.Ser others(139): Show p.Ser557_Glu558insGluHisGlnLeuThrProLeuProProSerAl aProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgG lyProLeuProProSerAlaAspAspAsnLeuLysThrProSer	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4413/6292	1670/3417	557/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224925	C C	CGCTGAGG others(119): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01099.hp1 NA20805.hp1 HG01099.hp1 NA20805.hp1	a0002 a0002	a0002c0041 a0002c0042 a0002c0041 a0002c0042	a0002c0041t0001 a0002c0042t0001 a0002c0041t0001 a0002c0042t0001	a0002c0041t0001g0071 a0002c0042t0001g0072 a0002c0041t0001g0071 a0002c0042t0001g0072	2	145	0.0138	126	c.152 others(135): Show c.1520_1521insCGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGC	p.Ala others(139): Show p.Ala507_Asp508insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIleL ysThrProAlaGluArgLeuArgGlyProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4263/6292	1520/3417	507/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224940	C C	CGGCCCCC others(119): Show CGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGG GTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTG AGATTATCATCCGCTGAGGGTGGAAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp2 NA18612.hp1 HG00621.hp2 NA18612.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0064 a0002c0012t0001g0079 a0002c0012t0001g0064 a0002c0012t0001g0079	2	145	0.0138	126	c.150 others(135): Show c.1505_1506insACTTCCACCCTCAGCGGATGATAATCTCAAGACACC TTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAG ATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCC	p.Pro others(139): Show p.Pro502_Leu503insLeuProProSerAlaAspAspAsnLeuLysTh rProSerGluArgGlnLeuThrProLeuProProSerAlaProProSerA laAspAspAsnIleLysThrProAlaGluArgLeuArgGlyPro	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4248/6292	1505/3417	502/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225198	C C	CCGCAGAC others(119): Show CCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAG CTGAGGGTGGAAGGGGAGTGAGCTGATGCTCGGAAGGTGTCTTGAGATTA TCATCCGCTGAGGGTGGAAGCGGCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 NA19240.hp1 HG01884.hp1 NA19240.hp1	a0021 a0022 a0021 a0022	a0021c0025 a0022c0024 a0021c0025 a0022c0024	a0021c0025t0001 a0022c0024t0001 a0021c0025t0001 a0022c0024t0001	a0021c0025t0001g0067 a0022c0024t0001g0057 a0021c0025t0001g0067 a0022c0024t0001g0057	2	145	0.0138	126	c.124 others(135): Show c.1247_1248insAGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAA GACACCTTCCGAGCATCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCT CAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG	p.Arg others(139): Show p.Arg416_Gly417insGlyProLeuProProSerAlaAspAspAsnLe uLysThrProSerGluHisGlnLeuThrProLeuProProSerAlaProP roSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArg	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3990/6292	1247/3417	416/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225360	C C	CGCTGAGG others(5): Show CGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp2 HG01884.hp2 HG02055.hp1 others(13): Show HG00639.hp2 HG01884.hp2 HG02055.hp1 HG02056.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp2 NA18942.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp2	a0001 a0011 a0024 others(12): Show a0001 a0011 a0024 a0038 a0039 a0040 a0043 a0045 a0047 a0049 a0050 a0051 a0052 a0053 a0054	a0001c0004 a0011c0014 a0024c0027 others(12): Show a0001c0004 a0011c0014 a0024c0027 a0038c0022 a0039c0060 a0040c0059 a0043c0019 a0045c0057 a0047c0055 a0049c0021 a0050c0058 a0051c0051 a0052c0049 a0053c0050 a0054c0037	a0001c0004t0001 a0011c0014t0003 a0011c0014t0004 others(13): Show a0001c0004t0001 a0011c0014t0003 a0011c0014t0004 a0024c0027t0002 a0038c0022t0022 a0039c0060t0003 a0040c0059t0001 a0043c0019t0002 a0045c0057t0003 a0047c0055t0002 a0049c0021t0001 a0050c0058t0004 a0051c0051t0003 a0052c0049t0002 a0053c0050t0001 a0054c0037t0001	a0001c0004t0001g0069 a0011c0014t0003g0100 a0011c0014t0004g0010 others(13): Show a0001c0004t0001g0069 a0011c0014t0003g0100 a0011c0014t0004g0010 a0024c0027t0002g0136 a0038c0022t0022g0143 a0039c0060t0003g0113 a0040c0059t0001g0062 a0043c0019t0002g0116 a0045c0057t0003g0093 a0047c0055t0002g0117 a0049c0021t0001g0040 a0050c0058t0004g0003 a0051c0051t0003g0096 a0052c0049t0002g0141 a0053c0050t0001g0052 a0054c0037t0001g0082	16	145	0.1103	12	c.107 others(21): Show c.1074_1085dupTCCACCCTCAGC	p.Ala others(25): Show p.Ala362_Asp363insProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3828/6292	1085/3417	362/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225372	A A	AAGCGGCC others(38): Show AAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0002 a0014c0030t0002	a0014c0030t0002g0121 a0014c0030t0002g0121	1	145	0.0069	45	c.107 others(54): Show c.1073_1074insAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCT	p.Ala others(58): Show p.Ala358_Pro359insAspAspAsnIleLysThrProAlaGluArgLe uArgGlyProLeu	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3816/6292	1073/3417	358/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225372	A A	AGCTGAGG others(107): Show AGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGAT TATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTC TTGATATTATCATCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp1 HG02717.hp2 HG03195.hp2 others(1): Show HG02717.hp1 HG02717.hp2 HG03195.hp2 NA19240.hp2	a0006 a0006	a0006c0010 a0006c0011 a0006c0010 a0006c0011	a0006c0010t0001 a0006c0011t0006 a0006c0010t0001 a0006c0011t0006	a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0011t0006g0018 others(1): Show a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0011t0006g0018 a0006c0011t0006g0019	4	145	0.0276	114	c.107 others(123): Show c.1073_1074insAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGC GTCAGCTCACTCCCCTTCCACCCTCAGC	p.Ala others(127): Show p.Ala358_Pro359insAspAspAsnIleLysThrProAlaGluArgLe uArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrProSerG luArgGlnLeuThrProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3816/6292	1073/3417	358/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225384	A A	AAGGGGAG others(38): Show AAGGGGAGTGAGCTGATGCTCGGAAGGTGTCTTGAGATTATCATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG03098.hp1 NA18957.hp1 NA19030.hp2	a0005 a0012 a0015 others(4): Show a0005 a0012 a0015 a0017 a0018 a0058 a0060	a0005c0006 a0012c0016 a0015c0031 others(4): Show a0005c0006 a0012c0016 a0015c0031 a0017c0029 a0018c0028 a0058c0071 a0060c0075	a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 others(4): Show a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 a0017c0029t0002 a0018c0028t0002 a0058c0071t0002 a0060c0075t0002	a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 others(9): Show a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0012c0016t0002g0137 a0012c0016t0002g0139 a0015c0031t0002g0130 a0017c0029t0002g0138 a0018c0028t0002g0134 a0058c0071t0002g0140 a0060c0075t0002g0129	12	145	0.0828	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTTCCGAGCATCAGCT CACTCCCCT	p.Ala others(58): Show p.Ala354_Pro355insAspAspAsnLeuLysThrProSerGluHisGl nLeuThrProLeu	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3804/6292	1061/3417	354/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225441	C C	CGCTGAGG others(200): Show CGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGATGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGATGGAG CAGACACTCGGCACGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTG AGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0002 a0014c0030t0002	a0014c0030t0002g0121 a0014c0030t0002g0121	1	145	0.0069	207	c.100 others(216): Show c.1004_1005insTCCACCCTCAGCTCCACCCTCAGCGGATGATAATCT CAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGCGGATG ATAATCTCAAGACACCTTCCGAGCATCAGCTCACTCCCCTTCCACCCTCA GCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCTTCCACCCTCAGC	p.Ala others(220): Show p.Ala335_Asp336insProProSerAlaProProSerAlaAspAspAs nLeuLysThrArgAlaGluCysLeuLeuHisProLeuProProSerAlaA spAspAsnLeuLysThrProSerGluHisGlnLeuThrProLeuProPro SerAlaProProSerAlaAspAspAsnIleLysThrProAlaGluArgLe uArgGlyProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3747/6292	1004/3417	335/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225441	C C	CGCTGAGG others(74): Show CGCTGAGGGTGGAAGGGGATGGAGCAGACACTCGGCACGTGTCTTGAGAT TATCATCCGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0018 a0006c0011t0006g0019 a0006c0011t0006g0018 a0006c0011t0006g0019	2	145	0.0138	81	c.100 others(90): Show c.1004_1005insTCCACCCTCAGCTCCACCCTCAGCGGATGATAATCT CAAGACACGTGCCGAGTGTCTGCTCCATCCCCTTCCACCCTCAGC	p.Ala others(94): Show p.Ala335_Asp336insProProSerAlaProProSerAlaAspAspAs nLeuLysThrArgAlaGluCysLeuLeuHisProLeuProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3747/6292	1004/3417	335/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225441	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(9): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG03098.hp1 NA18957.hp1 NA19030.hp2	a0005 a0012 a0015 others(4): Show a0005 a0012 a0015 a0017 a0018 a0058 a0060	a0005c0006 a0012c0016 a0015c0031 others(4): Show a0005c0006 a0012c0016 a0015c0031 a0017c0029 a0018c0028 a0058c0071 a0060c0075	a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 others(4): Show a0005c0006t0002 a0012c0016t0002 a0015c0031t0002 a0017c0029t0002 a0018c0028t0002 a0058c0071t0002 a0060c0075t0002	a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 others(9): Show a0005c0006t0002g0122 a0005c0006t0002g0126 a0005c0006t0002g0127 a0005c0006t0002g0128 a0005c0006t0002g0131 a0012c0016t0002g0137 a0012c0016t0002g0139 a0015c0031t0002g0130 a0017c0029t0002g0138 a0018c0028t0002g0134 a0058c0071t0002g0140 a0060c0075t0002g0129	12	145	0.0828	24	c.100 others(33): Show c.1004_1005insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala335_Asp336insProProSerAlaProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3747/6292	1004/3417	335/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225498	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0010t0001g0055 a0006c0010t0001g0066	2	145	0.0138	24	c.947 others(31): Show c.947_948insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala316_Asp317insProProSerAlaProProSerAla	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3690/6292	947/3417	316/1138		chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225588	G G	GGGAGGTG others(50): Show GGGAGGTGTCTTGAGATTATCGTCCGCTGAGGGTGGAAGGGGAGTGAGCA GACACTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0055 a0006c0010t0001g0066 a0006c0010t0001g0055 a0006c0010t0001g0066	2	145	0.0138	57	c.857 others(64): Show c.857_858insTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGACG ATAATCTCAAGACACCTCC	p.Pro others(70): Show p.Pro286_Glu287insGluCysLeuLeuThrProLeuProProSerAl aAspAspAsnLeuLysThrProPro	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3600/6292	857/3417	286/1138		chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21837301	C C	CGCTGAGG others(5): Show CGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp2 HG03453.hp2	a0084 a0084	a0084c0063 a0084c0063	a0084c0063t0001 a0084c0063t0001	a0084c0063t0001g0048 a0084c0063t0001g0048	1	204	0.0049	12	c.107 others(21): Show c.1074_1085dupTCCACCCTCAGC	p.Ala others(25): Show p.Ala362_Asp363insProProSerAla	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1300/4020	1085/3669	362/1222		chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22533975	T T	TTCCACCC others(17): Show TTCCACCCTCAGCTCTACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0042 a0025c0025t0004g0042	1	47	0.0213	24	c.100 others(33): Show c.1004_1005insTCTACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala335_Asp336insLeuProSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3916/6463	1005/3402	335/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534044	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTCCCGAGTGTCTGGTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01975.hp2	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0007 a0032c0034t0007	a0032c0034t0007g0011 a0032c0034t0007g0011	1	47	0.0213	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTCCCGAGTGTCTGGT CACTCCCCT	p.Ala others(58): Show p.Ala354_Leu355insAspAspAsnLeuLysThrProProGluCysLe uValThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3973/6463	1062/3402	354/1133		chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534044	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0042 a0025c0025t0004g0042	1	47	0.0213	45	c.106 others(54): Show c.1061_1062insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCT	p.Ala others(58): Show p.Ala354_Leu355insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3973/6463	1062/3402	354/1133		chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534056	C C	CGGATGAT others(38): Show CGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTTCACTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01975.hp2	a0032 a0032	a0032c0034 a0032c0034	a0032c0034t0007 a0032c0034t0007	a0032c0034t0007g0011 a0032c0034t0007g0011	1	47	0.0213	45	c.107 others(54): Show c.1073_1074insGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTT CACTCCCCT	p.Ala others(58): Show p.Ala358_Pro359insAspAspAsnLeuLysThrProProGluCysLe uPheThrProLeu	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3985/6463	1074/3402	358/1133		chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534308	C C	CTCCACCC others(107): Show CTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGG GGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCG TCAGCTCACTGCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0004 a0025c0025t0004	a0025c0025t0004g0042 a0025c0025t0004g0042	1	47	0.0213	114	c.136 others(123): Show c.1361_1362insCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGA TGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCT CAGCAGATGATAATATCAAGACACCTGC	p.Ala others(127): Show p.Ala454_Glu455insGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrAlaLeuProP roSerAlaAspAspAsnIleLysThrProAla	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	22534548	T T	TTCCACCC others(5): Show TTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp1 HG00642.hp1 HG02040.hp2 others(1): Show HG00621.hp1 HG00642.hp1 HG02040.hp2 NA20300.hp1	a0022 a0024 a0029 others(1): Show a0022 a0024 a0029 a0033	a0022c0029 a0024c0028 a0029c0003 others(1): Show a0022c0029 a0024c0028 a0029c0003 a0033c0031	a0022c0029t0002 a0024c0028t0002 a0029c0003t0010 others(1): Show a0022c0029t0002 a0024c0028t0002 a0029c0003t0010 a0033c0031t0013	a0022c0029t0002g0006 a0024c0028t0002g0007 a0029c0003t0010g0043 others(1): Show a0022c0029t0002g0006 a0024c0028t0002g0007 a0029c0003t0010g0043 a0033c0031t0013g0040	4	47	0.0851	12	c.156 others(21): Show c.1566_1577dupTCCACCCTCAGC	p.Ala others(25): Show p.Ala526_Asp527insProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(119): Show TTCCACCCTCAGCAGATGATAATATCAATACACCTGCCGAGCGTCTGCGG GGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCG TCAGCTCACTCCCCTTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp1 HG02040.hp1	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0001 a0017c0007t0001	a0017c0007t0001g0035 a0017c0007t0001g0035	1	47	0.0213	126	c.159 others(135): Show c.1592_1593insTACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACC CTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCC TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAA	p.Ile others(139): Show p.Ile530_Lys531insAsnThrProAlaGluArgLeuArgGlyProLe uProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLeuT hrProLeuProProSerAlaProProSerAlaAspAspAsnIle	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4504/6463	1593/3402	531/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(131): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01981.hp2 HG01975.hp2 HG01981.hp2	a0031 a0032 a0031 a0032	a0031c0035 a0032c0034 a0031c0035 a0032c0034	a0031c0035t0008 a0032c0034t0007 a0031c0035t0008 a0032c0034t0007	a0031c0035t0008g0013 a0032c0034t0007g0011 a0031c0035t0008g0013 a0032c0034t0007g0011	2	47	0.0426	138	c.157 others(147): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GC	p.Ala others(151): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProPro SerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(623): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAG CAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCA CCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCC CCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTG CCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAG ACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTC AGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTC CACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACT GCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCT GCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCG AGCGTCAGCTCACTCCCCTTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0009 a0023c0027t0001g0009	1	47	0.0213	630	c.157 others(639): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCC ACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTC CCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCT GCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAA GACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCT CAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTT CCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCAC TGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTC TGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCC GAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(643): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProPro SerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyProLe uProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLeuT hrProLeuProProSerAlaProProSerAlaAspAspAsnIleLysThr ProAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLe uLysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProP roSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyPro LeuProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLe uThrAlaLeuProProSerAlaAspAspAsnIleLysThrProAlaGluA rgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrPro SerGluArgGlnLeuThrProLeuProProSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(245): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAATA TCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01496.hp2 HG02602.hp2 NA19082.hp2 HG01496.hp2 HG02602.hp2 NA19082.hp2	a0018 a0019 a0030 a0018 a0019 a0030	a0018c0004 a0019c0005 a0030c0023 a0018c0004 a0019c0005 a0030c0023	a0018c0004t0011 a0019c0005t0001 a0030c0023t0012 a0018c0004t0011 a0019c0005t0001 a0030c0023t0012	a0018c0004t0011g0019 a0019c0005t0001g0016 a0030c0023t0012g0010 a0018c0004t0011g0019 a0019c0005t0001g0016 a0030c0023t0012g0010	3	47	0.0638	252	c.157 others(261): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTGCCCTTCCACCCTCAGCAGATGATAAT ATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGA TGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCT CAGCTCCACCCTCAGC	p.Ala others(265): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrAlaLeuProProSerAlaAspAsp AsnIleLysThrProAlaGluArgLeuArgGlyProLeuProProSerAl aAspAspAsnLeuLysThrProSerGluArgGlnLeuThrProLeuProP roSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534729	G G	GATA GATA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show HG00621.hp1 HG01496.hp1 HG02040.hp2 NA20300.hp1	a0016 a0022 a0029 others(1): Show a0016 a0022 a0029 a0033	a0016c0006 a0022c0029 a0029c0003 others(1): Show a0016c0006 a0022c0029 a0029c0003 a0033c0031	a0016c0006t0016 a0022c0029t0002 a0029c0003t0010 others(1): Show a0016c0006t0016 a0022c0029t0002 a0029c0003t0010 a0033c0031t0013	a0016c0006t0016g0039 a0022c0029t0002g0006 a0029c0003t0010g0043 others(1): Show a0016c0006t0016g0039 a0022c0029t0002g0006 a0029c0003t0010g0043 a0033c0031t0013g0040	4	47	0.0851	3	c.174 others(12): Show c.1748_1749insAAT	p.Ile others(6): Show p.Ile583dup	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4660/6463	1749/3402	583/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534729	G G	GATAATCT others(110): Show GATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTC AGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGAGTTCCGCTTC CACCATCAGCGGATGATA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01975.hp2 HG01981.hp2 HG01975.hp2 HG01981.hp2	a0031 a0032 a0031 a0032	a0031c0035 a0032c0034 a0031c0035 a0032c0034	a0031c0035t0008 a0032c0034t0007 a0031c0035t0008 a0032c0034t0007	a0031c0035t0008g0013 a0032c0034t0007g0011 a0031c0035t0008g0013 a0032c0034t0007g0011	2	47	0.0426	117	c.174 others(126): Show c.1748_1749insAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCC CTTCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCG AGTTCCGCTTCCACCATCAGCGGATGATAAT	p.Ile others(130): Show p.Ile583_Ser584insIleSerArgHisLeuProSerValSerSerLe uProPheHisProGlnGlnMetIleIleSerArgTyrLeuLeuSerValC ysGluPheArgPheHisHisGlnArgMetIleIle	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4660/6463	1749/3402	583/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22535100	A A	AGATGATA others(119): Show AGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCAC CCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGT CTGCGGGGGCCGCTTCCACCCTCAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp1 NA19043.hp1	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0014 a0034c0036t0014	a0034c0036t0014g0012 a0034c0036t0014g0012	1	47	0.0213	126	c.224 others(135): Show c.2243_2368dupGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGC	p.Arg others(13): Show p.Arg748_Gln789dup	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	5280/6463	2369/3402	790/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22535584	G G	GGAGCGTC others(119): Show GGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GCAGATGATAATATCAAGACACCTGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02622.hp1 HG03927.hp1 HG02622.hp1 HG03927.hp1	a0006 a0007 a0006 a0007	a0006c0011 a0007c0012 a0006c0011 a0007c0012	a0006c0011t0005 a0007c0012t0003 a0006c0011t0005 a0007c0012t0003	a0006c0011t0005g0003 a0007c0012t0003g0014 a0006c0011t0005g0003 a0007c0012t0003g0014	2	47	0.0426	126	c.288 others(135): Show c.2886_3011dupGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCT CACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGA CACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGC	p.Ala others(141): Show p.Ala1004_Asp1005insAspAspAsnLeuLysThrProSerGluArg GlnLeuThrProLeuProProSerAlaProProSerAlaAspAspAsnIl eLysThrProAlaGluArgLeuArgGlyProLeuProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	5923/6463	3012/3402	1004/1133	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28342859	G G	GAGATTAT others(56): Show GAGATTATCATCCACTGAGGGTGGAAGAGGAGAGGGTGGAAGCGGGACAA AGAGACATTCCTTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG00609.hp1 others(124): Show HG00099.hp2 HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0006 a0008 a0011 a0014 a0015 a0016 a0021 a0023 a0028	a0002c0002 a0003c0003 a0004c0004 others(11): Show a0002c0002 a0003c0003 a0004c0004 a0006c0007 a0006c0028 a0008c0011 a0008c0012 a0011c0013 a0014c0016 a0015c0017 a0016c0018 a0021c0022 a0023c0023 a0028c0034	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(15): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0004c0004t0002 a0004c0004t0004 a0006c0007t0002 a0006c0028t0007 a0008c0011t0002 a0008c0012t0002 a0011c0013t0002 a0014c0016t0002 a0015c0017t0002 a0016c0018t0002 a0021c0022t0002 a0023c0023t0001 a0028c0034t0001	a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0002g0017 others(117): Show a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0006g0268 a0003c0003t0001g0220 a0003c0003t0002g0221 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0298 a0003c0003t0002g0299 a0003c0003t0002g0300 a0003c0003t0002g0301 a0003c0003t0002g0302 a0003c0003t0002g0303 a0003c0003t0002g0304 a0003c0003t0002g0305 a0003c0003t0002g0306 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0309 a0003c0003t0002g0310 a0003c0003t0002g0311 a0003c0003t0002g0312 a0003c0003t0002g0313 a0003c0003t0002g0314 a0003c0003t0002g0315 a0003c0003t0002g0316 a0003c0003t0002g0317 a0003c0003t0002g0318 a0003c0003t0002g0319 a0003c0003t0002g0320 a0003c0003t0002g0321 a0003c0003t0002g0322 a0003c0003t0002g0323 a0003c0003t0002g0324 a0003c0003t0002g0325 a0003c0003t0002g0326 a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0225 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0229 a0004c0004t0002g0231 a0004c0004t0002g0232 a0004c0004t0002g0233 a0004c0004t0002g0234 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0237 a0004c0004t0002g0238 a0004c0004t0002g0239 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0242 a0004c0004t0002g0243 a0004c0004t0002g0244 a0004c0004t0002g0245 a0004c0004t0002g0246 a0004c0004t0002g0252 a0004c0004t0002g0327 a0004c0004t0004g0024 a0006c0007t0002g0247 a0006c0007t0002g0292 a0006c0007t0002g0293 a0006c0007t0002g0294 a0006c0007t0002g0295 a0006c0028t0007g0331 a0008c0011t0002g0270 a0008c0011t0002g0273 a0008c0011t0002g0284 a0008c0012t0002g0223 a0008c0012t0002g0226 a0008c0012t0002g0230 a0011c0013t0002g0018 a0011c0013t0002g0258 a0014c0016t0002g0256 a0014c0016t0002g0279 a0015c0017t0002g0255 a0015c0017t0002g0286 a0016c0018t0002g0250 a0016c0018t0002g0251 a0021c0022t0002g0261 a0023c0023t0001g0169 a0028c0034t0001g0204	127	361	0.3518	63	c.963 others(71): Show c.963_1025dupGAAGGAATGTCTCTTTGTCCCGCTTCCACCCTCTCCT CTTCCACCCTCAGTGGATGATAATCT	p.Leu others(76): Show p.Leu342_Lys343insLysGluCysLeuPheValProLeuProProSe rProLeuProProSerValAspAspAsnLeu	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	8/8	1549/1892	1025/1278	342/425		chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28342901	C C	CGGGACAA others(56): Show CGGGACAAAGAGACATTCCTTCAGATTATCATCCACTGAGGGTGGAAGAG GAGAGGGTGGAAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0030 a0006c0030	a0006c0030t0002 a0006c0030t0002	a0006c0030t0002g0289 a0006c0030t0002g0289	1	361	0.0028	63	c.983 others(70): Show c.983_984insACTTCCACCCTCTCCTCTTCCACCCTCAGTGGATGATA ATCTGAAGGAATGTCTCTTTGTCCC	p.Pro others(76): Show p.Pro328_Leu329insLeuProProSerProLeuProProSerValAs pAspAsnLeuLysGluCysLeuPheValPro	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	8/8	1507/1892	983/1278	328/425		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(35): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCTTGGGTTTCGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(101): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG04228.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA18998.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19081.hp2 NA19082.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0010 others(12): Show a0002 a0007 a0010 a0011 a0013 a0014 a0015 a0016 a0021 a0025 a0026 a0027 a0028 a0030 a0034	a0002c0002 a0007c0006 a0010c0012 others(12): Show a0002c0002 a0007c0006 a0010c0012 a0011c0013 a0013c0016 a0014c0017 a0015c0018 a0016c0019 a0021c0025 a0025c0033 a0026c0029 a0027c0030 a0028c0028 a0030c0034 a0034c0045	a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 others(37): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0031 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0002t0038 a0002c0002t0041 a0002c0002t0043 a0002c0002t0046 a0002c0002t0061 a0007c0006t0005 a0007c0006t0007 a0007c0006t0020 a0007c0006t0026 a0007c0006t0044 a0007c0006t0045 a0007c0006t0047 a0010c0012t0002 a0011c0013t0002 a0011c0013t0036 a0013c0016t0005 a0014c0017t0005 a0015c0018t0011 a0015c0018t0039 a0016c0019t0021 a0021c0025t0002 a0025c0033t0030 a0026c0029t0065 a0027c0030t0002 a0028c0028t0042 a0030c0034t0002 a0034c0045t0001	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 others(89): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0009g0005 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0011g0083 a0002c0002t0011g0085 a0002c0002t0011g0086 a0002c0002t0014g0012 a0002c0002t0014g0112 a0002c0002t0015g0131 a0002c0002t0015g0132 a0002c0002t0015g0133 a0002c0002t0017g0036 a0002c0002t0017g0037 a0002c0002t0018g0044 a0002c0002t0018g0045 a0002c0002t0019g0049 a0002c0002t0031g0035 a0002c0002t0032g0038 a0002c0002t0034g0043 a0002c0002t0035g0046 a0002c0002t0037g0050 a0002c0002t0038g0051 a0002c0002t0041g0089 a0002c0002t0043g0091 a0002c0002t0046g0111 a0002c0002t0061g0332 a0007c0006t0005g0094 a0007c0006t0005g0095 a0007c0006t0005g0096 a0007c0006t0005g0097 a0007c0006t0005g0098 a0007c0006t0005g0102 a0007c0006t0005g0103 a0007c0006t0005g0104 a0007c0006t0007g0137 a0007c0006t0020g0092 a0007c0006t0020g0093 a0007c0006t0026g0030 a0007c0006t0044g0109 a0007c0006t0045g0110 a0007c0006t0047g0113 a0010c0012t0002g0070 a0010c0012t0002g0071 a0010c0012t0002g0072 a0010c0012t0002g0080 a0011c0013t0002g0064 a0011c0013t0002g0079 a0011c0013t0036g0047 a0013c0016t0005g0100 a0013c0016t0005g0101 a0014c0017t0005g0105 a0014c0017t0005g0106 a0015c0018t0011g0084 a0015c0018t0039g0087 a0016c0019t0021g0107 a0016c0019t0021g0108 a0021c0025t0002g0077 a0025c0033t0030g0034 a0026c0029t0065g0339 a0027c0030t0002g0054 a0028c0028t0042g0090 a0030c0034t0002g0078 a0034c0045t0001g0286	104	382	0.2723	42	c.112 others(51): Show c.1121_1122insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser374_Pro375insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(35): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCTTGGGTTTGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00408.hp2	a0038 a0038	a0038c0047 a0038c0047	a0038c0047t0008 a0038c0047t0008	a0038c0047t0008g0324 a0038c0047t0008g0324	1	382	0.0026	42	c.112 others(51): Show c.1121_1122insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser374_Pro375insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456556	C C	CACCTCAT others(35): Show CACCTCATCCACCCTCCGCCTCTTGGGTTTCGGTGATTGTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0019 a0002c0026t0019	a0002c0026t0019g0048 a0002c0026t0019g0048	1	382	0.0026	42	c.111 others(51): Show c.1112_1113insAGAACAATCACCGAAACCCAAGAGGCGGAGGGTGGA TGAGGT	p.Val others(55): Show p.Val371_Glu372insGluGlnSerProLysProLysArgArgArgVa lAspGluVal	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3010/3238	1112/1245	371/414		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658481	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCCAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19078.hp1 NA19078.hp1	a0020 a0020	a0020c0047 a0020c0047	a0020c0047t0001 a0020c0047t0001	a0020c0047t0001g0215 a0020c0047t0001g0215	1	351	0.0029	42	c.117 others(51): Show c.1175_1176insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1300/1537	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658481	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG01071.hp1 HG01257.hp2 others(6): Show HG00280.hp1 HG01071.hp1 HG01257.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 NA18979.hp2 NA18980.hp1 NA20129.hp1	a0006 a0026 a0006 a0026	a0006c0005 a0026c0048 a0006c0005 a0026c0048	a0006c0005t0002 a0006c0005t0007 a0026c0048t0001 a0006c0005t0002 a0006c0005t0007 a0026c0048t0001	a0006c0005t0002g0179 a0006c0005t0002g0278 a0006c0005t0002g0279 others(6): Show a0006c0005t0002g0179 a0006c0005t0002g0278 a0006c0005t0002g0279 a0006c0005t0002g0280 a0006c0005t0002g0293 a0006c0005t0002g0296 a0006c0005t0002g0297 a0006c0005t0007g0295 a0026c0048t0001g0055	9	351	0.0256	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1300/1537	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772593	C C	CAAACCCA others(35): Show CAAACCCAAGAGGTGGAGGGTGGATGAGGTGGAACAATCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG01243.hp2 HG02071.hp2 others(14): Show HG01109.hp2 HG01243.hp2 HG02071.hp2 HG02723.hp2 HG02809.hp2 HG03209.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19077.hp2 NA19080.hp2 NA19087.hp2 NA19089.hp2	a0003 a0012 a0003 a0012	a0003c0005 a0003c0006 a0012c0014 a0003c0005 a0003c0006 a0012c0014	a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 others(1): Show a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 a0012c0014t0001	a0003c0005t0001g0099 a0003c0005t0001g0103 a0003c0005t0001g0104 others(14): Show a0003c0005t0001g0099 a0003c0005t0001g0103 a0003c0005t0001g0104 a0003c0005t0001g0106 a0003c0005t0002g0165 a0003c0005t0002g0166 a0003c0005t0002g0167 a0003c0005t0002g0168 a0003c0006t0001g0009 a0003c0006t0001g0105 a0003c0006t0001g0107 a0003c0006t0001g0108 a0003c0006t0001g0109 a0003c0006t0001g0119 a0003c0006t0001g0156 a0012c0014t0001g0050 a0012c0014t0001g0051	17	179	0.0950	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGTGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgTrpArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772606	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCCAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(84): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01496.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18955.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0000 a0001 a0004 others(10): Show a0000 a0001 a0004 a0005 a0006 a0008 a0011 a0013 a0014 a0016 a0022 a0023 a0024	a0000c0016 a0001c0001 a0001c0013 others(12): Show a0000c0016 a0001c0001 a0001c0013 a0004c0003 a0005c0008 a0005c0036 a0006c0010 a0008c0022 a0011c0018 a0013c0012 a0014c0024 a0016c0025 a0022c0030 a0023c0034 a0024c0035	a0000c0016t0001 a0001c0001t0001 a0001c0001t0003 others(14): Show a0000c0016t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0013t0001 a0004c0003t0001 a0005c0008t0001 a0005c0036t0001 a0006c0010t0001 a0008c0022t0001 a0011c0018t0001 a0013c0012t0001 a0014c0024t0001 a0016c0025t0001 a0022c0030t0001 a0023c0034t0001 a0024c0035t0001	a0000c0016t0001g0003 a0000c0016t0001g0043 a0001c0001t0001g0001 others(80): Show a0000c0016t0001g0003 a0000c0016t0001g0043 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0003g0114 a0001c0001t0004g0163 a0001c0013t0001g0008 a0004c0003t0001g0016 a0004c0003t0001g0017 a0004c0003t0001g0018 a0004c0003t0001g0020 a0004c0003t0001g0026 a0004c0003t0001g0048 a0004c0003t0001g0110 a0004c0003t0001g0111 a0004c0003t0001g0112 a0004c0003t0001g0113 a0004c0003t0001g0153 a0005c0008t0001g0063 a0005c0008t0001g0064 a0005c0008t0001g0066 a0005c0008t0001g0157 a0005c0036t0001g0128 a0006c0010t0001g0127 a0006c0010t0001g0132 a0006c0010t0001g0154 a0008c0022t0001g0011 a0011c0018t0001g0029 a0011c0018t0001g0030 a0013c0012t0001g0137 a0013c0012t0001g0149 a0014c0024t0001g0142 a0016c0025t0001g0006 a0022c0030t0001g0135 a0023c0034t0001g0125 a0024c0035t0001g0065	87	179	0.4860	42	c.117 others(51): Show c.1175_1176insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772606	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02615.hp1 HG02615.hp2 HG02723.hp1 others(10): Show HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp2 NA19086.hp2 NA19240.hp1	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0004 a0001c0019 a0008c0023 others(1): Show a0001c0004 a0001c0019 a0008c0023 a0021c0029	a0001c0004t0001 a0001c0019t0001 a0008c0023t0001 others(1): Show a0001c0004t0001 a0001c0019t0001 a0008c0023t0001 a0021c0029t0001	a0001c0004t0001g0004 a0001c0004t0001g0054 a0001c0004t0001g0056 others(9): Show a0001c0004t0001g0004 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0080 a0001c0004t0001g0120 a0001c0019t0001g0052 a0008c0023t0001g0081 a0021c0029t0001g0027	13	179	0.0726	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772608	G G	GAGGGTGG others(35): Show GAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGCGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0053 a0001c0033t0001g0053	1	179	0.0056	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGAAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432	INFO_REALIGN_3_PRIME	chr16	TogoVar
NR1H2_chr19_50371457_50388388	50378563	A A	AAAC AAAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(199): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0010 others(2): Show a0001c0001 a0001c0009 a0001c0010 a0001c0011 a0003c0008	a0001c0001t0001 a0001c0001t0014 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0014g0002 a0001c0009t0001g0001 a0001c0010t0001g0001 a0001c0011t0001g0001 a0003c0008t0001g0016 a0003c0008t0001g0054	202	374	0.5401	3	c.516 others(10): Show c.516_518dupACA	p.Gln others(6): Show p.Gln173dup	NR1H2	ENSG00000131408.15	transcript	ENST00000253727.10	protein_coding	6/10	766/2416	519/1383	173/460	INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT15_chr13_48032726_48052221	48037782	A A	AGGAGTC AGGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG01433.hp1 HG01943.hp1 others(8): Show HG00558.hp1 HG01433.hp1 HG01943.hp1 HG01952.hp2 NA18945.hp1 NA18964.hp2 NA18978.hp2 NA18982.hp2 NA19000.hp1 NA19077.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0073 a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0073	11	424	0.0259	6	c.50_ others(11): Show c.50_55dupGAGTCG	p.Gly others(11): Show p.Gly17_Val18dup	NUDT15	ENSG00000136159.4	transcript	ENST00000258662.3	protein_coding	1/3	77/1938	56/495	19/164	INFO_REALIGN_3_PRIME	chr13	TogoVar
NUMA1_chr11_71997864_72085542	72005248	A A	ATAGCAGG others(23): Show ATAGCAGGTCTTCAGATGTGGGGGGCACACT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA18992.hp1 NA18992.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0204 a0016c0025t0001g0204	1	244	0.0041	30	c.578 others(39): Show c.5784_5813dupAGTGTGCCCCCCACATCTGAAGACCTGCTA	p.Cys others(45): Show p.Cys1937_Tyr1938insTerValCysProProHisLeuLysThrCys	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	23/27	6000/7198	5813/6348	1938/2115		chr11	TogoVar
NUP42_chr7_23177048_23206006	23182178	A A	ACGGCAGC others(5): Show ACGGCAGCAACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00642.hp2 HG01069.hp2 HG01192.hp2 HG00642.hp2 HG01069.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0031 a0004c0006t0001g0075 a0004c0006t0001g0092 a0004c0006t0001g0031 a0004c0006t0001g0075 a0004c0006t0001g0092	3	364	0.0082	12	c.95_ others(18): Show c.95_106dupGGCAGCAACCGC	p.Arg others(11): Show p.Arg32_Pro35dup	NUP42	ENSG00000136243.18	transcript	ENST00000258742.10	protein_coding	1/7	145/1571	107/1272	36/423	INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP54_chr4_76109664_76153397	76144165	C C	CTGT CTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(84): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02735.hp1 HG02922.hp2 HG03453.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0006 a0005c0007 a0002c0002 a0004c0006 a0005c0007	a0002c0002t0003 a0004c0006t0003 a0005c0007t0003 a0002c0002t0003 a0004c0006t0003 a0005c0007t0003	a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0005 others(63): Show a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0004c0006t0003g0031 a0005c0007t0003g0066	87	370	0.2351	3	c.276 others(10): Show c.276_278dupACA	p.Gln others(5): Show p.Gln93dup	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	3/12	301/2249	278/1524	93/507		chr4	TogoVar
NXPH4_chr12_57211794_57231449	57225404	T T	TGGC TGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG01255.hp1 HG01891.hp2 others(11): Show HG00738.hp2 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp2 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0008 a0002c0004t0001g0022 a0002c0004t0001g0032 others(3): Show a0002c0004t0001g0008 a0002c0004t0001g0022 a0002c0004t0001g0032 a0002c0004t0001g0044 a0002c0004t0002g0008 a0002c0004t0002g0045	14	382	0.0367	3	c.585 others(10): Show c.585_587dupGGC	p.Ala others(6): Show p.Ala196dup	NXPH4	ENSG00000182379.10	transcript	ENST00000349394.6	protein_coding	2/2	764/1805	588/927	196/308	INFO_REALIGN_3_PRIME	chr12	TogoVar
NYNRIN_chr14_24394003_24424283	24409748	A A	ACAGTTTC others(11): Show ACAGTTTCCAAAGCACCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02622.hp2 HG02809.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02965.hp1	a0006 a0006	a0006c0009 a0006c0019 a0006c0009 a0006c0019	a0006c0009t0002 a0006c0019t0002 a0006c0009t0002 a0006c0019t0002	a0006c0009t0002g0054 a0006c0009t0002g0179 a0006c0019t0002g0108 a0006c0009t0002g0054 a0006c0009t0002g0179 a0006c0019t0002g0108	4	450	0.0089	18	c.195 others(27): Show c.1958_1975dupTTTCCAAAGCACCTGCAG	p.Val others(13): Show p.Val653_Ala658dup	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	4/9	2077/7635	1976/5697	659/1898	INFO_REALIGN_3_PRIME	chr14	TogoVar
OBSCN_chr1_228203044_228383876	228372439	G G	GAGGAGGA others(5): Show GAGGAGGAGGAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG02486.hp2	a0103 a0103	a0103c0098 a0103c0098	a0103c0098t0001 a0103c0098t0001	a0103c0098t0001g0189 a0103c0098t0001g0189	1	320	0.0031	12	c.245 others(23): Show c.24542_24553dupAGCAGGAGGAGG	p.Glu others(15): Show p.Glu8181_Glu8184dup	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	105/116	24714/27019	24554/26778	8185/8925	INFO_REALIGN_3_PRIME	chr1	TogoVar

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