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
NFE2L3_chr7_26147198_26192137	26152597	C C	CCTG CCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp2 HG01106.hp2 HG01167.hp2 others(8): Show HG00741.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp1 HG02970.hp2 HG03225.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0005 a0002c0004t0009 a0002c0007t0003 a0002c0004t0005 a0002c0004t0009 a0002c0007t0003	a0002c0004t0005g0047 a0002c0004t0005g0048 a0002c0004t0005g0263 others(5): Show a0002c0004t0005g0047 a0002c0004t0005g0048 a0002c0004t0005g0263 a0002c0004t0005g0264 a0002c0004t0009g0039 a0002c0007t0003g0224 a0002c0007t0003g0231 a0002c0007t0003g0232	11	400	0.0275	3	c.107 others(10): Show c.107_109dupTGC	p.Leu others(5): Show p.Leu36dup	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/4	411/3740	110/2085	37/694	INFO_REALIGN_3_PRIME	chr7	TogoVar
NME3_chr16_1765320_1776543	1771127	T T	TTCACGCA others(14): Show TTCACGCAGCTCGGCGTAGTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0014 a0004c0007t0001g0014	1	426	0.0024	21	c.201 others(28): Show c.201_221dupGCACTACGCCGAGCTGCGTGA	p.Glu others(32): Show p.Glu74_Arg75insHisTyrAlaGluLeuArgGlu	NME3	ENSG00000103024.8	transcript	ENST00000219302.8	protein_coding	3/5	230/848	221/510	74/169		chr16	TogoVar
NOMO3_chr16_16227528_16299811	16232700	C C	CCCGCGGT others(8): Show CCCGCGGTGGTCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp1 HG01993.hp1	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0003 a0014c0011t0003	a0014c0011t0003g0034 a0014c0011t0003g0034	1	132	0.0076	15	c.45_ others(20): Show c.45_59dupCACCGCCGCGGTGGT	p.Val others(26): Show p.Val20_Leu21insThrAlaAlaValVal	NOMO3	ENSG00000103226.19	transcript	ENST00000399336.9	protein_coding	1/31	199/4320	60/3669	20/1222	INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP9_chr14_24294850_24314124	24300643	A A	AGAG AGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00733.hp2 HG00741.hp2 HG01070.hp2 others(91): Show HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA19001.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0003 a0004 a0005 others(4): Show a0003 a0004 a0005 a0009 a0010 a0012 a0019	a0003c0004 a0003c0007 a0003c0026 others(7): Show a0003c0004 a0003c0007 a0003c0026 a0004c0005 a0004c0015 a0005c0006 a0009c0010 a0010c0012 a0012c0023 a0019c0013	a0003c0004t0003 a0003c0004t0013 a0003c0004t0017 others(18): Show a0003c0004t0003 a0003c0004t0013 a0003c0004t0017 a0003c0004t0024 a0003c0004t0029 a0003c0004t0038 a0003c0007t0003 a0003c0026t0003 a0004c0005t0001 a0004c0005t0002 a0004c0005t0005 a0004c0005t0009 a0004c0005t0015 a0004c0005t0036 a0004c0015t0028 a0005c0006t0006 a0009c0010t0006 a0009c0010t0018 a0010c0012t0003 a0012c0023t0005 a0019c0013t0003	a0003c0004t0003g0004 a0003c0004t0003g0010 a0003c0004t0003g0015 others(21): Show a0003c0004t0003g0004 a0003c0004t0003g0010 a0003c0004t0003g0015 a0003c0004t0013g0004 a0003c0004t0017g0004 a0003c0004t0024g0016 a0003c0004t0029g0004 a0003c0004t0038g0004 a0003c0007t0003g0004 a0003c0026t0003g0004 a0004c0005t0001g0001 a0004c0005t0002g0001 a0004c0005t0005g0001 a0004c0005t0005g0027 a0004c0005t0009g0001 a0004c0005t0015g0001 a0004c0005t0036g0001 a0004c0015t0028g0023 a0005c0006t0006g0006 a0009c0010t0006g0006 a0009c0010t0018g0006 a0010c0012t0003g0004 a0012c0023t0005g0001 a0019c0013t0003g0010	94	414	0.2271	3	c.507 others(10): Show c.507_509dupGGA	p.Glu others(6): Show p.Glu169dup	NOP9	ENSG00000196943.14	transcript	ENST00000267425.8	protein_coding	2/10	615/6045	510/1911	170/636	INFO_REALIGN_3_PRIME	chr14	TogoVar
NOP9_chr14_24294850_24314124	24300643	A A	AGAGGAG AGAGGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00544.hp2 others(90): Show HG00099.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0002 a0007 a0011 others(1): Show a0002 a0007 a0011 a0018	a0002c0002 a0007c0009 a0011c0024 others(1): Show a0002c0002 a0007c0009 a0011c0024 a0018c0014	a0002c0002t0001 a0002c0002t0011 a0002c0002t0023 others(6): Show a0002c0002t0001 a0002c0002t0011 a0002c0002t0023 a0002c0002t0025 a0002c0002t0034 a0002c0002t0041 a0007c0009t0014 a0011c0024t0001 a0018c0014t0006	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 others(15): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0011g0002 a0002c0002t0023g0002 a0002c0002t0025g0002 a0002c0002t0034g0002 a0002c0002t0041g0006 a0007c0009t0014g0009 a0011c0024t0001g0002 a0018c0014t0006g0026	93	414	0.2246	6	c.504 others(13): Show c.504_509dupGGAGGA	p.Glu others(13): Show p.Glu168_Glu169dup	NOP9	ENSG00000196943.14	transcript	ENST00000267425.8	protein_coding	2/10	615/6045	510/1911	170/636	INFO_REALIGN_3_PRIME	chr14	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGC AGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp1 HG00558.hp2 HG00735.hp1 others(7): Show HG00544.hp1 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01516.hp2 HG02155.hp2 HG02602.hp2 HG02723.hp2 HG03942.hp2 homoSapiens_chm13v2.hp1	a0014 a0015 a0014 a0015	a0014c0012 a0015c0017 a0015c0030 others(1): Show a0014c0012 a0015c0017 a0015c0030 a0015c0032	a0014c0012t0011 a0014c0012t0017 a0015c0017t0002 others(2): Show a0014c0012t0011 a0014c0012t0017 a0015c0017t0002 a0015c0030t0001 a0015c0032t0002	a0014c0012t0011g0239 a0014c0012t0011g0241 a0014c0012t0011g0243 others(7): Show a0014c0012t0011g0239 a0014c0012t0011g0241 a0014c0012t0011g0243 a0014c0012t0017g0240 a0014c0012t0017g0244 a0015c0017t0002g0011 a0015c0017t0002g0046 a0015c0017t0002g0047 a0015c0030t0001g0148 a0015c0032t0002g0024	10	260	0.0385	3	c.42_ others(8): Show c.42_44dupCGG	p.Gly others(5): Show p.Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGC AGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(50): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01081.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01952.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02818.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18970.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA20752.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0001c0019 a0025c0031 a0001c0001 a0001c0019 a0025c0031	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0019t0010 a0001c0019t0035 a0025c0031t0002	a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(50): Show a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0256 a0001c0001t0009g0016 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0030 a0001c0001t0009g0035 a0001c0001t0016g0048 a0001c0001t0016g0055 a0001c0001t0016g0061 a0001c0001t0022g0006 a0001c0001t0022g0007 a0001c0001t0023g0025 a0001c0001t0023g0037 a0001c0001t0024g0019 a0001c0001t0050g0059 a0001c0001t0051g0029 a0001c0001t0052g0049 a0001c0001t0054g0053 a0001c0001t0055g0062 a0001c0019t0010g0253 a0001c0019t0035g0074 a0025c0031t0002g0060	53	260	0.2039	6	c.39_ others(11): Show c.39_44dupCGGCGG	p.Gly others(11): Show p.Gly14_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(2): Show AGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG02109.hp1 HG02559.hp1 others(6): Show HG01081.hp2 HG02109.hp1 HG02559.hp1 HG02735.hp1 HG03490.hp2 NA18612.hp2 NA18968.hp2 NA19066.hp2 NA19068.hp2	a0010 a0010	a0010c0009 a0010c0033 a0010c0009 a0010c0033	a0010c0009t0001 a0010c0009t0005 a0010c0009t0012 others(3): Show a0010c0009t0001 a0010c0009t0005 a0010c0009t0012 a0010c0009t0013 a0010c0009t0033 a0010c0033t0002	a0010c0009t0001g0001 a0010c0009t0001g0124 a0010c0009t0001g0150 others(6): Show a0010c0009t0001g0001 a0010c0009t0001g0124 a0010c0009t0001g0150 a0010c0009t0005g0084 a0010c0009t0012g0078 a0010c0009t0012g0103 a0010c0009t0013g0173 a0010c0009t0033g0191 a0010c0033t0002g0018	9	260	0.0346	9	c.36_ others(14): Show c.36_44dupCGGCGGCGG	p.Gly others(11): Show p.Gly13_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(5): Show AGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG01243.hp1 HG01243.hp2 others(5): Show HG01109.hp1 HG01243.hp1 HG01243.hp2 HG02486.hp2 HG02559.hp2 HG03130.hp2 NA18998.hp1 NA19063.hp1	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0001 a0012c0010t0010 a0012c0010t0021 others(3): Show a0012c0010t0001 a0012c0010t0010 a0012c0010t0021 a0012c0010t0038 a0012c0010t0039 a0012c0010t0053	a0012c0010t0001g0077 a0012c0010t0001g0086 a0012c0010t0001g0132 others(5): Show a0012c0010t0001g0077 a0012c0010t0001g0086 a0012c0010t0001g0132 a0012c0010t0010g0251 a0012c0010t0021g0156 a0012c0010t0038g0168 a0012c0010t0039g0172 a0012c0010t0053g0089	8	260	0.0308	12	c.33_ others(17): Show c.33_44dupCGGCGGCGGCGG	p.Gly others(11): Show p.Gly12_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG02080.hp2 HG02602.hp1 others(4): Show HG01168.hp2 HG02080.hp2 HG02602.hp1 HG02647.hp2 HG04199.hp2 NA18988.hp1 NA19090.hp1	a0011 a0011	a0011c0011 a0011c0041 a0011c0011 a0011c0041	a0011c0011t0001 a0011c0011t0005 a0011c0011t0006 others(1): Show a0011c0011t0001 a0011c0011t0005 a0011c0011t0006 a0011c0041t0003	a0011c0011t0001g0097 a0011c0011t0001g0130 a0011c0011t0005g0205 others(4): Show a0011c0011t0001g0097 a0011c0011t0001g0130 a0011c0011t0005g0205 a0011c0011t0006g0123 a0011c0011t0006g0151 a0011c0011t0006g0233 a0011c0041t0003g0170	7	260	0.0269	15	c.30_ others(20): Show c.30_44dupCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly11_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(11): Show AGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG00642.hp2 HG01891.hp1 others(16): Show HG00558.hp1 HG00642.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02071.hp1 HG02280.hp1 HG02280.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 NA18906.hp2 NA18946.hp2 NA18972.hp1 NA18994.hp2 NA19011.hp1 NA19077.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 others(7): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0008 a0003c0003t0010 a0003c0003t0012 a0003c0003t0020 a0003c0003t0028 a0003c0003t0034	a0003c0003t0001g0102 a0003c0003t0001g0162 a0003c0003t0001g0167 others(16): Show a0003c0003t0001g0102 a0003c0003t0001g0162 a0003c0003t0001g0167 a0003c0003t0001g0175 a0003c0003t0001g0181 a0003c0003t0001g0187 a0003c0003t0001g0194 a0003c0003t0003g0117 a0003c0003t0004g0087 a0003c0003t0004g0219 a0003c0003t0005g0210 a0003c0003t0008g0185 a0003c0003t0010g0250 a0003c0003t0010g0252 a0003c0003t0012g0104 a0003c0003t0020g0125 a0003c0003t0020g0228 a0003c0003t0028g0118 a0003c0003t0034g0204	19	260	0.0731	18	c.27_ others(23): Show c.27_44dupCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly10_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(14): Show AGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00738.hp2 HG00741.hp1 others(31): Show HG00438.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01358.hp1 HG01433.hp1 HG01934.hp1 HG02040.hp1 HG02273.hp2 HG02523.hp1 HG02647.hp1 HG02698.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG04199.hp1 HG04228.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18969.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19066.hp1 NA19082.hp1 NA19090.hp2	a0002 a0029 a0002 a0029	a0002c0002 a0002c0022 a0029c0044 a0002c0002 a0002c0022 a0029c0044	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(8): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0019 a0002c0002t0026 a0002c0002t0037 a0002c0002t0046 a0002c0022t0043 a0002c0022t0045 a0029c0044t0003	a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0108 others(30): Show a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0108 a0002c0002t0001g0121 a0002c0002t0001g0129 a0002c0002t0001g0169 a0002c0002t0001g0193 a0002c0002t0001g0206 a0002c0002t0001g0212 a0002c0002t0001g0225 a0002c0002t0004g0003 a0002c0002t0004g0098 a0002c0002t0004g0128 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0005g0122 a0002c0002t0005g0203 a0002c0002t0005g0207 a0002c0002t0005g0211 a0002c0002t0005g0245 a0002c0002t0005g0246 a0002c0002t0006g0171 a0002c0002t0006g0254 a0002c0002t0019g0111 a0002c0002t0019g0166 a0002c0002t0026g0112 a0002c0002t0037g0140 a0002c0002t0046g0119 a0002c0022t0043g0180 a0002c0022t0045g0179 a0029c0044t0003g0152	34	260	0.1308	21	c.24_ others(26): Show c.24_44dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly9_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(17): Show AGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG01074.hp2 HG01109.hp2 others(14): Show HG00140.hp2 HG01074.hp2 HG01109.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02148.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA19068.hp1	a0004 a0030 a0004 a0030	a0004c0004 a0004c0042 a0030c0037 a0004c0004 a0004c0042 a0030c0037	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(6): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0006 a0004c0004t0008 a0004c0004t0014 a0004c0004t0041 a0004c0042t0001 a0030c0037t0032	a0004c0004t0001g0096 a0004c0004t0001g0107 a0004c0004t0001g0120 others(14): Show a0004c0004t0001g0096 a0004c0004t0001g0107 a0004c0004t0001g0120 a0004c0004t0001g0126 a0004c0004t0001g0157 a0004c0004t0001g0161 a0004c0004t0001g0255 a0004c0004t0003g0178 a0004c0004t0004g0216 a0004c0004t0004g0218 a0004c0004t0006g0192 a0004c0004t0008g0106 a0004c0004t0014g0115 a0004c0004t0014g0116 a0004c0004t0041g0214 a0004c0042t0001g0196 a0030c0037t0032g0242	17	260	0.0654	24	c.21_ others(29): Show c.21_44dupCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly8_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(20): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG01071.hp1 HG02165.hp2 others(9): Show HG00408.hp2 HG01071.hp1 HG02165.hp2 HG02886.hp1 NA18952.hp1 NA18981.hp1 NA18982.hp2 NA18992.hp2 NA19001.hp2 NA19007.hp2 NA19012.hp2 NA19078.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0004 a0007c0006t0005 others(3): Show a0007c0006t0001 a0007c0006t0004 a0007c0006t0005 a0007c0006t0006 a0007c0006t0025 a0007c0006t0036	a0007c0006t0001g0154 a0007c0006t0001g0160 a0007c0006t0001g0184 others(9): Show a0007c0006t0001g0154 a0007c0006t0001g0160 a0007c0006t0001g0184 a0007c0006t0001g0202 a0007c0006t0001g0227 a0007c0006t0004g0217 a0007c0006t0004g0220 a0007c0006t0005g0208 a0007c0006t0006g0088 a0007c0006t0006g0131 a0007c0006t0025g0247 a0007c0006t0036g0110	12	260	0.0462	27	c.18_ others(32): Show c.18_44dupCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly7_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(23): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG01952.hp2 HG01975.hp1 others(10): Show HG00544.hp2 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02258.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 NA18949.hp2 NA18968.hp1 NA19062.hp2	a0006 a0006	a0006c0007 a0006c0043 a0006c0007 a0006c0043	a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 others(4): Show a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 a0006c0007t0006 a0006c0007t0008 a0006c0007t0040 a0006c0043t0001	a0006c0007t0001g0001 a0006c0007t0001g0136 a0006c0007t0001g0155 others(10): Show a0006c0007t0001g0001 a0006c0007t0001g0136 a0006c0007t0001g0155 a0006c0007t0001g0159 a0006c0007t0001g0215 a0006c0007t0001g0229 a0006c0007t0003g0176 a0006c0007t0005g0209 a0006c0007t0006g0091 a0006c0007t0006g0195 a0006c0007t0008g0142 a0006c0007t0040g0143 a0006c0043t0001g0093	13	260	0.0500	30	c.44_ others(35): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(41): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(26): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp1 HG01169.hp2 HG01346.hp1 others(8): Show HG01168.hp1 HG01169.hp2 HG01346.hp1 HG02135.hp2 HG02886.hp2 HG02976.hp2 HG03831.hp2 NA18940.hp1 NA18952.hp2 NA18953.hp1 NA18989.hp1	a0008 a0008	a0008c0008 a0008c0045 a0008c0008 a0008c0045	a0008c0008t0001 a0008c0008t0006 a0008c0008t0042 others(3): Show a0008c0008t0001 a0008c0008t0006 a0008c0008t0042 a0008c0008t0048 a0008c0008t0056 a0008c0045t0008	a0008c0008t0001g0001 a0008c0008t0001g0094 a0008c0008t0001g0095 others(8): Show a0008c0008t0001g0001 a0008c0008t0001g0094 a0008c0008t0001g0095 a0008c0008t0001g0145 a0008c0008t0001g0183 a0008c0008t0001g0234 a0008c0008t0006g0182 a0008c0008t0042g0100 a0008c0008t0048g0177 a0008c0008t0056g0099 a0008c0045t0008g0144	11	260	0.0423	33	c.44_ others(38): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(44): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(29): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp2 HG04228.hp1 NA18955.hp1 HG03209.hp2 HG04228.hp1 NA18955.hp1	a0017 a0017	a0017c0024 a0017c0048 a0017c0024 a0017c0048	a0017c0024t0003 a0017c0024t0013 a0017c0048t0005 a0017c0024t0003 a0017c0024t0013 a0017c0048t0005	a0017c0024t0003g0137 a0017c0024t0013g0190 a0017c0048t0005g0153 a0017c0024t0003g0137 a0017c0024t0013g0190 a0017c0048t0005g0153	3	260	0.0115	36	c.44_ others(41): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(47): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG ly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(32): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG01074.hp1 HG01433.hp2 others(3): Show HG00408.hp1 HG01074.hp1 HG01433.hp2 HG02809.hp2 NA18964.hp2 NA19058.hp2	a0009 a0009	a0009c0013 a0009c0049 a0009c0013 a0009c0049	a0009c0013t0001 a0009c0013t0003 a0009c0013t0008 others(1): Show a0009c0013t0001 a0009c0013t0003 a0009c0013t0008 a0009c0049t0001	a0009c0013t0001g0198 a0009c0013t0001g0230 a0009c0013t0003g0085 others(3): Show a0009c0013t0001g0198 a0009c0013t0001g0230 a0009c0013t0003g0085 a0009c0013t0003g0226 a0009c0013t0008g0146 a0009c0049t0001g0188	6	260	0.0231	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(35): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG01169.hp1 NA19001.hp1 HG00609.hp1 HG01169.hp1 NA19001.hp1	a0018 a0018	a0018c0025 a0018c0050 a0018c0025 a0018c0050	a0018c0025t0001 a0018c0025t0003 a0018c0050t0001 a0018c0025t0001 a0018c0025t0003 a0018c0050t0001	a0018c0025t0001g0189 a0018c0025t0003g0113 a0018c0050t0001g0200 a0018c0025t0001g0189 a0018c0025t0003g0113 a0018c0050t0001g0200	3	260	0.0115	42	c.44_ others(47): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GG	p.Gly others(53): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(38): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01516.hp1 HG02083.hp1 HG02523.hp2 others(1): Show HG01516.hp1 HG02083.hp1 HG02523.hp2 HG04204.hp1	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0001 a0019c0016t0003 a0019c0016t0001 a0019c0016t0003	a0019c0016t0001g0149 a0019c0016t0001g0231 a0019c0016t0003g0101 others(1): Show a0019c0016t0001g0149 a0019c0016t0001g0231 a0019c0016t0003g0101 a0019c0016t0003g0158	4	260	0.0154	45	c.44_ others(50): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGG	p.Gly others(56): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(41): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18969.hp1 NA18969.hp1	a0020 a0020	a0020c0051 a0020c0051	a0020c0051t0003 a0020c0051t0003	a0020c0051t0003g0165 a0020c0051t0003g0165	1	260	0.0039	48	c.44_ others(53): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGG	p.Gly others(59): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(44): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02155.hp1 NA18970.hp1 HG02155.hp1 NA18970.hp1	a0021 a0021	a0021c0052 a0021c0054 a0021c0052 a0021c0054	a0021c0052t0003 a0021c0054t0001 a0021c0052t0003 a0021c0054t0001	a0021c0052t0003g0147 a0021c0054t0001g0201 a0021c0052t0003g0147 a0021c0054t0001g0201	2	260	0.0077	51	c.44_ others(56): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGG	p.Gly others(62): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(47): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19240.hp1 NA19240.hp1	a0031 a0031	a0031c0053 a0031c0053	a0031c0053t0013 a0031c0053t0013	a0031c0053t0013g0174 a0031c0053t0013g0174	1	260	0.0039	54	c.44_ others(59): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGG	p.Gly others(65): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(50): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18992.hp1 NA18992.hp1	a0032 a0032	a0032c0055 a0032c0055	a0032c0055t0003 a0032c0055t0003	a0032c0055t0003g0164 a0032c0055t0003g0164	1	260	0.0039	57	c.44_ others(62): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGG	p.Gly others(68): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(53): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp2 NA19060.hp1 NA18954.hp2 NA19060.hp1	a0022 a0022	a0022c0056 a0022c0058 a0022c0056 a0022c0058	a0022c0056t0003 a0022c0058t0003 a0022c0056t0003 a0022c0058t0003	a0022c0056t0003g0186 a0022c0058t0003g0213 a0022c0056t0003g0186 a0022c0058t0003g0213	2	260	0.0077	60	c.44_ others(65): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGG	p.Gly others(71): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(56): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp2 HG00609.hp2	a0033 a0033	a0033c0057 a0033c0057	a0033c0057t0021 a0033c0057t0021	a0033c0057t0021g0199 a0033c0057t0021g0199	1	260	0.0039	63	c.44_ others(68): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(74): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(59): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19054.hp1 NA19054.hp1	a0034 a0034	a0034c0059 a0034c0059	a0034c0059t0003 a0034c0059t0003	a0034c0059t0003g0248 a0034c0059t0003g0248	1	260	0.0039	66	c.44_ others(71): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(77): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390817	C C	CGGCGGCG others(29): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp2 HG00639.hp2	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0141 a0017c0036t0001g0141	1	260	0.0039	36	c.44_ others(41): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGG	p.Gly others(47): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG ly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390817	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0040 a0009c0040	a0009c0040t0001 a0009c0040t0001	a0009c0040t0001g0127 a0009c0040t0001g0127	1	260	0.0039	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390820	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18747.hp1 NA18906.hp1 NA18747.hp1 NA18906.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0018 a0009c0023t0001 a0009c0023t0018	a0009c0023t0001g0075 a0009c0023t0018g0163 a0009c0023t0001g0075 a0009c0023t0018g0163	2	260	0.0077	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGA CGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02145.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0015 a0016c0015t0047 a0016c0015t0015 a0016c0015t0047	a0016c0015t0015g0236 a0016c0015t0015g0237 a0016c0015t0015g0238 others(1): Show a0016c0015t0015g0236 a0016c0015t0015g0237 a0016c0015t0015g0238 a0016c0015t0047g0235	4	260	0.0154	6	c.44_ others(11): Show c.44_45insCGGAGG	p.Gly others(11): Show p.Gly14_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(8): Show CGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp1 HG00140.hp1 HG00323.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0072 a0011c0020t0001g0073 a0011c0020t0001g0072 a0011c0020t0001g0073	2	260	0.0077	15	c.44_ others(20): Show c.44_45insCGGCGGCGGCGGAGG	p.Gly others(11): Show p.Gly11_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp1 HG02486.hp1 HG02135.hp1 HG02486.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0003 a0003c0021t0012 a0003c0021t0003 a0003c0021t0012	a0003c0021t0003g0092 a0003c0021t0012g0105 a0003c0021t0003g0092 a0003c0021t0012g0105	2	260	0.0077	18	c.44_ others(23): Show c.44_45insCGGCGGCGGCGGCGGAGG	p.Gly others(11): Show p.Gly10_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(17): Show CGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0001 a0004c0034t0001	a0004c0034t0001g0138 a0004c0034t0001g0138	1	260	0.0039	24	c.44_ others(29): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGAGG	p.Gly others(10): Show p.Gly8_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19091.hp2 NA19091.hp2	a0009 a0009	a0009c0046 a0009c0046	a0009c0046t0003 a0009c0046t0003	a0009c0046t0003g0232 a0009c0046t0003g0232	1	260	0.0039	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(35): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03654.hp2 HG03654.hp2	a0018 a0018	a0018c0047 a0018c0047	a0018c0047t0014 a0018c0047t0014	a0018c0047t0014g0114 a0018c0047t0014g0114	1	260	0.0039	42	c.44_ others(47): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA GG	p.Gly others(53): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(41): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0003 a0020c0018t0018 a0020c0018t0057 a0020c0018t0003 a0020c0018t0018 a0020c0018t0057	a0020c0018t0003g0002 a0020c0018t0018g0002 a0020c0018t0057g0139 a0020c0018t0003g0002 a0020c0018t0018g0002 a0020c0018t0057g0139	3	260	0.0115	48	c.44_ others(53): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGAGG	p.Gly others(59): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390838	C C	CGGCGGCG others(8): Show CGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA20129.hp2 NA20129.hp2	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0030 a0026c0035t0030	a0026c0035t0030g0080 a0026c0035t0030g0080	1	260	0.0039	15	c.55_ others(20): Show c.55_56insGCGGCGGCGGAGGCG	p.Gly others(11): Show p.Gly14_Gly18dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	223/8729	56/882	19/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390838	C C	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 NA19240.hp2 HG01891.hp2 NA19240.hp2	a0027 a0028 a0027 a0028	a0027c0039 a0028c0038 a0027c0039 a0028c0038	a0027c0039t0029 a0028c0038t0031 a0027c0039t0029 a0028c0038t0031	a0027c0039t0029g0082 a0028c0038t0031g0081 a0027c0039t0029g0082 a0028c0038t0031g0081	2	260	0.0077	18	c.55_ others(23): Show c.55_56insGCGGCGGCGGCGGAGGCG	p.Gly others(11): Show p.Gly13_Gly18dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	223/8729	56/882	19/293	INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	T T	TAGC TAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp2 HG00597.hp1 HG00673.hp1 others(34): Show HG00423.hp2 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01517.hp2 HG02027.hp2 HG02129.hp2 HG02257.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 NA18747.hp2 NA18951.hp1 NA18971.hp2 NA18987.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19054.hp2 NA19064.hp1 NA19068.hp1 NA19080.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0007 a0012 a0028 others(3): Show a0007 a0012 a0028 a0034 a0050 a0051	a0007c0006 a0007c0076 a0012c0013 others(6): Show a0007c0006 a0007c0076 a0012c0013 a0012c0077 a0028c0044 a0028c0078 a0034c0045 a0050c0075 a0051c0079	a0007c0006t0003 a0007c0076t0003 a0012c0013t0003 others(6): Show a0007c0006t0003 a0007c0076t0003 a0012c0013t0003 a0012c0077t0003 a0028c0044t0003 a0028c0078t0003 a0034c0045t0003 a0050c0075t0002 a0051c0079t0003	a0007c0006t0003g0029 a0007c0006t0003g0030 a0007c0006t0003g0046 others(27): Show a0007c0006t0003g0029 a0007c0006t0003g0030 a0007c0006t0003g0046 a0007c0006t0003g0047 a0007c0006t0003g0296 a0007c0006t0003g0306 a0007c0006t0003g0307 a0007c0006t0003g0308 a0007c0006t0003g0309 a0007c0006t0003g0315 a0007c0006t0003g0316 a0007c0006t0003g0317 a0007c0006t0003g0318 a0007c0076t0003g0304 a0012c0013t0003g0045 a0012c0013t0003g0297 a0012c0013t0003g0300 a0012c0013t0003g0301 a0012c0013t0003g0302 a0012c0013t0003g0303 a0012c0013t0003g0311 a0012c0013t0003g0319 a0012c0077t0003g0312 a0028c0044t0003g0313 a0028c0044t0003g0314 a0028c0078t0003g0305 a0034c0045t0003g0298 a0034c0045t0003g0299 a0050c0075t0002g0146 a0051c0079t0003g0310	37	437	0.0847	3	c.45_ others(8): Show c.45_47dupGCT	p.Leu others(5): Show p.Leu16dup	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	47/6012	16/2003		chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	T T	TAGCAGC TAGCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG00738.hp2 others(18): Show HG00099.hp2 HG00280.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02148.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG03130.hp1 HG03239.hp1 HG04184.hp1 HG04204.hp1 NA19240.hp2	a0011 a0014 a0052 others(1): Show a0011 a0014 a0052 a0053	a0011c0020 a0011c0023 a0011c0081 others(3): Show a0011c0020 a0011c0023 a0011c0081 a0014c0017 a0052c0080 a0053c0082	a0011c0020t0002 a0011c0023t0002 a0011c0081t0002 others(4): Show a0011c0020t0002 a0011c0023t0002 a0011c0081t0002 a0014c0017t0002 a0014c0017t0003 a0052c0080t0002 a0053c0082t0002	a0011c0020t0002g0019 a0011c0020t0002g0147 a0011c0020t0002g0148 others(13): Show a0011c0020t0002g0019 a0011c0020t0002g0147 a0011c0020t0002g0148 a0011c0020t0002g0149 a0011c0023t0002g0011 a0011c0023t0002g0155 a0011c0081t0002g0150 a0014c0017t0002g0152 a0014c0017t0002g0153 a0014c0017t0003g0320 a0014c0017t0003g0321 a0014c0017t0003g0322 a0014c0017t0003g0323 a0014c0017t0003g0324 a0052c0080t0002g0151 a0053c0082t0002g0154	21	437	0.0481	6	c.42_ others(11): Show c.42_47dupGCTGCT	p.Leu others(11): Show p.Leu15_Leu16dup	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	47/6012	16/2003		chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32223881	T T	TAGCAGCA others(2): Show TAGCAGCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03834.hp2 NA18948.hp1 NA19066.hp1 others(1): Show HG03834.hp2 NA18948.hp1 NA19066.hp1 NA20752.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0002 a0022c0029t0002	a0022c0029t0002g0012 a0022c0029t0002g0012	4	437	0.0092	9	c.39_ others(14): Show c.39_47dupGCTGCTGCT	p.Leu others(11): Show p.Leu14_Leu16dup	NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	1/30	186/6745	47/6012	16/2003		chr6	TogoVar
NPAS4_chr11_66416035_66431707	66423886	G G	GGCCTGAT others(29): Show GGCCTGATCCTGCCAGCAGTTGAACTCTGAGACACCA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01943.hp2 HG01943.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0001 a0005c0007t0001g0001	1	424	0.0024	36	c.998 others(43): Show c.998_999insCTGATCCTGCCAGCAGTTGAACTCTGAGACACCAGC	p.Ala others(49): Show p.Ala333_Ala334insTerSerCysGlnGlnLeuAsnSerGluThrPr oAla	NPAS4	ENSG00000174576.11	transcript	ENST00000311034.7	protein_coding	7/8	1144/3272	999/2409	333/802	INFO_REALIGN_3_PRIME	chr11	TogoVar
NPIPA1_chr16_14932443_14957056	14951897	C C	CCCGAGTG others(62): Show CCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCTCAGCGGA TGATAATCTCAAGACACCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp1 HG01978.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0054 a0011c0012t0002g0054	1	253	0.0040	69	c.961 others(76): Show c.961_962insTACCCTCAGCGGATGATAATCTCAAGACACCTGCCGAG TGTCTGCTCACTCCCCTTCCACCCTCAGCTC	p.Ala others(82): Show p.Ala320_Pro321insLeuProSerAlaAspAspAsnLeuLysThrPr oAlaGluCysLeuLeuThrProLeuProProSerAla	NPIPA1	ENSG00000183426.17	transcript	ENST00000328085.10	protein_coding	8/8	962/1084	962/1053	321/350	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPA2_chr16_14737533_14770462	14765146	C C	CCTCAAGA others(119): Show CCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC TACCCTCAGCGGATGATAATCTCAAGACACCTGCGGAGTGTCTGCTCTAT CCCCTTCCACCCTCAGCGGATGATAAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18989.hp2 NA18989.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0145 a0007c0013t0001g0145	1	205	0.0049	126	c.893 others(134): Show c.893_1018dupTACCCTCAGCGGATGATAATCTCAAGACACCTGCGGA GTGTCTGCTCTATCCCCTTCCACCCTCAGCGGATGATAATCTCAAGACAC CTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC	p.Leu others(13): Show p.Leu298_Ala339dup	NPIPA2	ENSG00000254852.9	transcript	ENST00000529166.6	protein_coding	10/10	1369/1509	1019/1110	340/369	INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15363785	G G	GGGAGGTG others(50): Show GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGATAGAGCA GACACTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp1 HG01928.hp1 HG02056.hp1 others(7): Show HG00735.hp1 HG01928.hp1 HG02056.hp1 HG02135.hp2 HG02615.hp1 NA18957.hp2 NA18988.hp2 NA19064.hp2 NA19086.hp1 NA20905.hp1	a0002 a0010 a0002 a0010	a0002c0003 a0002c0008 a0010c0013 a0002c0003 a0002c0008 a0010c0013	a0002c0003t0003 a0002c0008t0003 a0010c0013t0003 a0002c0003t0003 a0002c0008t0003 a0010c0013t0003	a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0190 others(7): Show a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0190 a0002c0003t0003g0207 a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0003g0220 a0002c0003t0003g0227 a0002c0008t0003g0193 a0010c0013t0003g0080	10	430	0.0233	57	c.926 others(64): Show c.926_927insGGAGTGTCTGCTCTATCCCCTTCCACCCTCAGCGGATG ATAATCTCAAGACACCTCC	p.Ala others(70): Show p.Ala309_Glu310insGluCysLeuLeuTyrProLeuProProSerAl aAspAspAsnLeuLysThrProPro	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	926/1084	926/1053	309/350		chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15363878	C C	CGCTGAGG others(5): Show CGCTGAGGGTAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02602.hp2 NA18979.hp2 NA19000.hp1 HG02602.hp2 NA18979.hp2 NA19000.hp1	a0009 a0013 a0009 a0013	a0009c0012 a0013c0023 a0009c0012 a0013c0023	a0009c0012t0003 a0013c0023t0003 a0009c0012t0003 a0013c0023t0003	a0009c0012t0003g0079 a0009c0012t0003g0136 a0013c0023t0003g0127 a0009c0012t0003g0079 a0009c0012t0003g0136 a0013c0023t0003g0127	3	430	0.0070	12	c.833 others(19): Show c.833_834insTCTACCCTCAGC	p.Ala others(25): Show p.Ala278_Asp279insLeuProSerAla	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	833/1084	833/1053	278/350		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383375	A A	AGAAGGTG others(119): Show AGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18612.hp1 NA18983.hp1 NA18984.hp1 others(2): Show NA18612.hp1 NA18983.hp1 NA18984.hp1 NA19011.hp1 NA19079.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0026 a0015c0013t0001 a0015c0013t0026	a0015c0013t0001g0077 a0015c0013t0001g0166 a0015c0013t0001g0168 others(2): Show a0015c0013t0001g0077 a0015c0013t0001g0166 a0015c0013t0001g0168 a0015c0013t0001g0177 a0015c0013t0026g0205	5	428	0.0117	126	c.155 others(135): Show c.1556_1557insCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCC ACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGC CGCTTCCACCCTCAGCCGATGATAATCTCAAGACACCTTC	p.Ser others(139): Show p.Ser519_Glu520insGluArgGlnLeuThrProLeuProProSerAl aProProSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgG lyProLeuProProSerAlaAspAspAsnLeuLysThrProSer	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4303/6369	1556/3486	519/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383984	A A	AAGGGGAG others(38): Show AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0132 a0132	a0132c0152 a0132c0152	a0132c0152t0001 a0132c0152t0001	a0132c0152t0001g0091 a0132c0152t0001g0091	1	428	0.0023	45	c.947 others(52): Show c.947_948insGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCA CTCCCCT	p.Ala others(58): Show p.Ala316_Pro317insAspAspAsnLeuLysThrProSerGluArgGl nLeuThrProLeu	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3694/6369	947/3486	316/1161		chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29384041	C C	CGCTGAGG others(17): Show CGCTGAGGGTGGAGCTGAGGGTGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03209.hp1 HG03209.hp1	a0132 a0132	a0132c0152 a0132c0152	a0132c0152t0001 a0132c0152t0001	a0132c0152t0001g0091 a0132c0152t0001g0091	1	428	0.0023	24	c.890 others(31): Show c.890_891insTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(37): Show p.Ala297_Asp298insProProSerAlaProProSerAla	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3637/6369	890/3486	297/1161		chr16	TogoVar

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