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
NBPF20_chr1_145285005_145430603	145374064	C C	CTCCCACG others(1577): Show CTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAAAG GAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGG AGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTA CCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAAT AAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGGTA GCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGGTA ACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAAGAA TGAAAGAGAAAGACAGATAGACACACACACACACACACACACACACACAC ACACACAGACACACACACACACACAGAGAGAGAGAACGAGCTCAGTGAAT TGTCCAGGTGACACACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTG CCCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAA TTTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATACAG TTTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGG AAGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTT AGTAGGAATAATTCAGGCTTGCTGGAAAAGATGTAATCGATAATGTCAGC CCGCTCTGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTA GCTGTTCACAATTGCTCAGTTACCTGGGGCATGGTGGGCCTTGGTCTTCT TCCTCTTCTTGGTCCTTTTTAGTTCCTGCAATACATTCAGACAGGGACAG ACAAAATAAGCCAATTCACCTACACCCATAACAGTCCACTGTCTAATCCC CACACAGGGATCTCAGGCTCCTCAGCATGAGAACAGGACAATGTGAGAGA GATACTTCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTGGTTTGCATC TCAGAACCAAGGGTGAAATATCCCCATTCTGGTAGATCGTTATCCCAAAA TCATTTATCCCAAGTTTGTGCAAACAGTTATGCCTTATTGTTCCCATCAG TTCAAAGAAAATGCCCCAGATGATTTCTAGGAGGAAAACTGCAGTATTCA GCCCTGTCTCATCAAATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGA CACTGAAATTAGAATGAAGGAGGAAATCTACAAACCCTTCAGTCCAAATC ATACTTCTGTGAATTTTTTACATCTGCCTGGGTCCAATGTGCTGAGAGCG GGCTCAGCTTGCCACAGGCATGGCTGGAGACTAGGAATAGAGCCTTGCTC ACTGACCCATTTCATGTCTAGGCTTCCAACTGAGACTACAGTTTCATTAC AACCTATATGCGCCCATAGGTCCTGCCTGCGGCAATGACATCTCTCGGGT CAGTAAGGGCCACTTGGAACAGGAATATCACCCCTATCTGGAAGACCAGG TGGAGGCTTATCACCTTCACAGTAAGGTACTCACT	stop_gained others(2): Show stop_gained conservative_inframe_insertion splice_region_variant	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0002 a0006c0006t0003g0002	1	6	0.1667	1584	c.414 others(1593): Show c.4140_4141insAGTGAGTACCTTACTGTGAAGGTGATAAGCCTCCAC CTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGA CCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTG TAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTG AGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAAGCTGAGCCC GCTCTCAGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAAGTATG ATTTGGACTGAAGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGT CTAAAATTCTTGCATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCT GAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAAC TGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAATGAT TTTGGGATAACGATCTACCAGAATGGGGATATTTCACCCTTGGTTCTGAG ATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATCT CTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGG GGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTC TGTCCCTGTCTGAATGTATTGCAGGAACTAAAAAGGACCAAGAAGAGGAA GAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCT ACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGG CTGACATTATCGATTACATCTTTTCCAGCAAGCCTGAATTATTCCTACTA ACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTC CTCCCCTTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAAC TGTATTCTCATGGCGACTGCATGGAAACTTGAGCACATTTTATGGAAAAT TATTGAGCACAGTCTTTTCATGATCCCTGTATGCTGTGTGTCCTGAGGGC ACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAA TTCACTGAGCTCGTTCTCTCTCTCTGTGTGTGTGTGTGTGTCTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCAT TCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTTGTT ACCTCATTAATGGATCTATCCTTTTAGTTTTTTAACCACTTCCCTATGCT ACCCATGAAACCTAGTTGGGGCTCTGTTGTGTCTGATTTCCCCTGGCTTA TTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGT AGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTC CTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGGAAGTTCC TTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGGA	p.Asp others(1599): Show p.Asp1380_Glu1381insSerGluTyrLeuThrValLysValIleSer LeuHisLeuValPheGlnIleGlyValIlePheLeuPheGlnValAlaLe uThrAspProArgAspValIleAlaAlaGlyArgThrTyrGlyArgIleT erValValMetLysLeuTerSerGlnLeuGluAlaTerThrTerAsnGly SerValSerLysAlaLeuPheLeuValSerSerHisAlaCysGlyLysLe uSerProLeuSerAlaHisTrpThrGlnAlaAspValLysAsnSerGlnL ysTyrAspLeuAspTerArgValCysArgPheProProSerPheTerPhe GlnCysLeuLysPheLeuHisProTerThrSerTrpAlaPheAspGluTh rGlyLeuAsnThrAlaValPheLeuLeuGluIleIleTrpGlyIlePheP heGluLeuMetGlyThrIleArgHisAsnCysLeuHisLysLeuGlyIle AsnAspPheGlyIleThrIleTyrGlnAsnGlyAspIleSerProLeuVa lLeuArgCysLysProLysAsnIleMetThrSerPheGlnAlaSerTerS erIleSerLeuThrLeuSerCysSerHisAlaGluGluProGluIlePro ValTrpGlyLeuAspSerGlyLeuLeuTrpValTerValAsnTrpLeuIl eLeuSerValProValTerMetTyrCysArgAsnTerLysGlyProArgA rgGlyArgArgProArgProThrMetProGlnValThrGluGlnLeuTer ThrAlaThrSerValLeuThrSerGlyAspSerTrpPheArgGluAsnAr gAlaGlyTerHisTyrArgLeuHisLeuPheGlnGlnAlaTerIleIleP roThrAsnIleAlaValGlyPheHisCysSerArgTyrLeuGlyPheHis PhePheLeuProLeuSerPheThrAsnLeuLeuTerValAspGlnThrSe rLysThrValPheSerTrpArgLeuHisGlyAsnLeuSerThrPheTyrG lyLysLeuLeuSerThrValPheSerTerSerLeuTyrAlaValCysPro GluGlyThrAsnSerGluCysProValThrProSerSerValCysHisLe uAspAsnSerLeuSerSerPheSerLeuSerValCysValCysValSerV alCysValCysValCysValCysValCysValCysLeuSerValPheLeu PheHisSerPheProPheGlyProValLeuSerGlnHisGluGlyAsnAs nLeuLeuProHisTerTrpIleTyrProPheSerPheLeuThrThrSerL euCysTyrProTerAsnLeuValGlyAlaLeuLeuCysLeuIleSerPro GlyLeuPhePheThrPheSerSerPheSerArgLeuSerArgGluLeuLe uGluValValGluProGluValLeuGlnAspSerLeuAspArgCysTyrS erThrProSerSerCysLeuGluGlnProAspSerCysGlnProTyrGly SerSerPheTyrAlaLeuGluGluLysHisValGlyPheSerLeuAspVa lGly	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	39/143	5259/19578	4140/16938	1380/5645		chr1	TogoVar
NBPF20_chr1_145285005_145430603	145378081	G G	C C	stop_gained stop_gained	HIGH	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0005 a0002c0005t0002g0005	1	6	0.1667	0	c.342 others(4): Show c.3423C>G	p.Tyr others(5): Show p.Tyr1141*	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	34/143	4542/19578	3423/16938	1141/5645		chr1	TogoVar
NBPF20_chr1_145285005_145430603	145378814	C C	CTCCCACG others(1577): Show CTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAAAG GAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGG AGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTA CCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAAT AAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGGTA GCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGGTA ACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAAGAA TGAAAGAGAAAGACAGATAGACACACACACACACACACACACACACACAC ACACACAGACACACACACACACACAGAGAGAGAGAACGAGCTCAGTGAAT TGTCCAGGTGACACACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTG CCCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAA TTTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATACAG TTTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGG AAGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTT AGTAGGAATAATTCAGGCTTGCTGGAAAAGATGTAATCGATAATGTCAGC CCGCTCTGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTA GCTGTTCACAATTGCTCAGTTACCTGGGGCATGGTGGGCCTTGGTCTTCT TCCTCTTCTTGGTCCTTTTTAGTTCCTGCAATACATTCAGACAGGGACAG ACAAAATAAGCCAATTCACCTACACCCATAACAGTCCACTGTCTAATCCC CACACAGGGATCTCAGGCTCCTCAGCATGAGAACAGGACAATGTGAGAGA GATACTTCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTGGTTTGCATC TCAGAACCAAGGGTGAAATATCCCCATTCTGGTAGATCGTTATCCCAAAA TCATTTATCCCAAGTTTGTGCAAACAGTTATGCCTTATTGTTCCCATCAG TTCAAAGAAAATGCCCCAGATGATTTCTAGGAGGAAAACTGCAGTATTCA GCCCTGTCTCATCAAATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGA CACTGAAATTAGAATGAAGGAGGAAATCTACAAACCCTTCAGTCCAAATC ATAGTTCTGTGAATTTTTTACATCTGCCTGGGTCCAATGTGCTGAGAGCG GGCTCAGCTTGCCACAGGCATGGCTGGAGACTAGGAATAGAGCCTTGCTC ACTGACCCATTTCATGTCTAGGCTTCCAACTGAGACTACAGTTTCATTAC AACCTATATGCGCCCATAGGTCCTGCCTGCGGCAATGACATCTCTCGGGT CAGTAAGGGCCACTTGGAACAGGAATATCACCCCTATCTGGAAGACCAGG TGGAGGCTTATCACCTTCACAGTAAGGTACTCACT	stop_gained others(2): Show stop_gained conservative_inframe_insertion splice_region_variant	HIGH	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0005 a0002c0005t0002g0005	1	6	0.1667	1584	c.340 others(1593): Show c.3408_3409insAGTGAGTACCTTACTGTGAAGGTGATAAGCCTCCAC CTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGA CCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTG TAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTG AGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAAGCTGAGCCC GCTCTCAGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAACTATG ATTTGGACTGAAGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGT CTAAAATTCTTGCATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCT GAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAAC TGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAATGAT TTTGGGATAACGATCTACCAGAATGGGGATATTTCACCCTTGGTTCTGAG ATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATCT CTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGG GGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTC TGTCCCTGTCTGAATGTATTGCAGGAACTAAAAAGGACCAAGAAGAGGAA GAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCT ACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGG CTGACATTATCGATTACATCTTTTCCAGCAAGCCTGAATTATTCCTACTA ACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTC CTCCCCTTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAAC TGTATTCTCATGGCGACTGCATGGAAACTTGAGCACATTTTATGGAAAAT TATTGAGCACAGTCTTTTCATGATCCCTGTATGCTGTGTGTCCTGAGGGC ACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAA TTCACTGAGCTCGTTCTCTCTCTCTGTGTGTGTGTGTGTGTCTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCAT TCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTTGTT ACCTCATTAATGGATCTATCCTTTTAGTTTTTTAACCACTTCCCTATGCT ACCCATGAAACCTAGTTGGGGCTCTGTTGTGTCTGATTTCCCCTGGCTTA TTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGT AGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTC CTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGGAAGTTCC TTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGGA	p.Asp others(1599): Show p.Asp1136_Glu1137insSerGluTyrLeuThrValLysValIleSer LeuHisLeuValPheGlnIleGlyValIlePheLeuPheGlnValAlaLe uThrAspProArgAspValIleAlaAlaGlyArgThrTyrGlyArgIleT erValValMetLysLeuTerSerGlnLeuGluAlaTerThrTerAsnGly SerValSerLysAlaLeuPheLeuValSerSerHisAlaCysGlyLysLe uSerProLeuSerAlaHisTrpThrGlnAlaAspValLysAsnSerGlnA snTyrAspLeuAspTerArgValCysArgPheProProSerPheTerPhe GlnCysLeuLysPheLeuHisProTerThrSerTrpAlaPheAspGluTh rGlyLeuAsnThrAlaValPheLeuLeuGluIleIleTrpGlyIlePheP heGluLeuMetGlyThrIleArgHisAsnCysLeuHisLysLeuGlyIle AsnAspPheGlyIleThrIleTyrGlnAsnGlyAspIleSerProLeuVa lLeuArgCysLysProLysAsnIleMetThrSerPheGlnAlaSerTerS erIleSerLeuThrLeuSerCysSerHisAlaGluGluProGluIlePro ValTrpGlyLeuAspSerGlyLeuLeuTrpValTerValAsnTrpLeuIl eLeuSerValProValTerMetTyrCysArgAsnTerLysGlyProArgA rgGlyArgArgProArgProThrMetProGlnValThrGluGlnLeuTer ThrAlaThrSerValLeuThrSerGlyAspSerTrpPheArgGluAsnAr gAlaGlyTerHisTyrArgLeuHisLeuPheGlnGlnAlaTerIleIleP roThrAsnIleAlaValGlyPheHisCysSerArgTyrLeuGlyPheHis PhePheLeuProLeuSerPheThrAsnLeuLeuTerValAspGlnThrSe rLysThrValPheSerTrpArgLeuHisGlyAsnLeuSerThrPheTyrG lyLysLeuLeuSerThrValPheSerTerSerLeuTyrAlaValCysPro GluGlyThrAsnSerGluCysProValThrProSerSerValCysHisLe uAspAsnSerLeuSerSerPheSerLeuSerValCysValCysValSerV alCysValCysValCysValCysValCysValCysLeuSerValPheLeu PheHisSerPheProPheGlyProValLeuSerGlnHisGluGlyAsnAs nLeuLeuProHisTerTrpIleTyrProPheSerPheLeuThrThrSerL euCysTyrProTerAsnLeuValGlyAlaLeuLeuCysLeuIleSerPro GlyLeuPhePheThrPheSerSerPheSerArgLeuSerArgGluLeuLe uGluValValGluProGluValLeuGlnAspSerLeuAspArgCysTyrS erThrProSerSerCysLeuGluGlnProAspSerCysGlnProTyrGly SerSerPheTyrAlaLeuGluGluLysHisValGlyPheSerLeuAspVa lGly	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	33/143	4527/19578	3408/16938	1136/5645		chr1	TogoVar
NBPF3_chr1_21435137_21489900	21478277	C C	T T	stop_gained stop_gained	HIGH	HG02738.hp1 HG02738.hp1	a0016 a0016	a0016c0031 a0016c0031	a0016c0031t0001 a0016c0031t0001	a0016c0031t0001g0268 a0016c0031t0001g0268	1	394	0.0025	0	c.112 others(4): Show c.1126C>T	p.Gln others(4): Show p.Gln376*	NBPF3	ENSG00000142794.19	transcript	ENST00000318249.10	protein_coding	9/15	1477/3767	1126/1902	376/633		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120438588	G G	T T	stop_gained stop_gained	HIGH	NA19010.hp2 NA19010.hp2	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0068 a0013c0037t0068	a0013c0037t0068g0266 a0013c0037t0068g0266	1	292	0.0034	0	c.220 others(3): Show c.220G>T	p.Glu others(3): Show p.Glu74*	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	5/23	1192/7256	220/2829	74/942		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120451275	G G	T T	stop_gained stop_gained	HIGH	NA18983.hp1 NA18983.hp1	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0003 a0014c0033t0003	a0014c0033t0003g0275 a0014c0033t0003g0275	1	292	0.0034	0	c.108 others(4): Show c.1084G>T	p.Glu others(4): Show p.Glu362*	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	10/23	2056/7256	1084/2829	362/942		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120466107	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG02004.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18962.hp1 NA18979.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0001c0011 a0001c0019 others(5): Show a0001c0002 a0001c0011 a0001c0019 a0001c0040 a0001c0041 a0001c0042 a0001c0044 a0012c0039	a0001c0002t0002 a0001c0002t0008 a0001c0002t0028 others(14): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0052 a0001c0002t0053 a0001c0002t0056 a0001c0011t0008 a0001c0011t0015 a0001c0019t0054 a0001c0019t0055 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002 a0001c0044t0031 a0012c0039t0002	a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0002g0013 others(54): Show a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0008g0002 a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0008g0058 a0001c0002t0008g0060 a0001c0002t0008g0061 a0001c0002t0008g0062 a0001c0002t0028g0035 a0001c0002t0028g0037 a0001c0002t0029g0015 a0001c0002t0029g0039 a0001c0002t0031g0065 a0001c0002t0052g0018 a0001c0002t0053g0051 a0001c0002t0056g0048 a0001c0011t0008g0049 a0001c0011t0015g0052 a0001c0011t0015g0053 a0001c0011t0015g0056 a0001c0011t0015g0057 a0001c0011t0015g0059 a0001c0019t0054g0066 a0001c0019t0055g0063 a0001c0040t0002g0033 a0001c0041t0002g0025 a0001c0042t0002g0050 a0001c0044t0031g0064 a0012c0039t0002g0021	59	292	0.2021	0	c.271 others(4): Show c.2715C>G	p.Tyr others(4): Show p.Tyr905*	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	23/23	3687/7256	2715/2829	905/942		chr1	TogoVar
NBPF9_chr1_149047186_149108551	149060561	A A	T T	stop_gained stop_gained	HIGH	NA19078.hp2 NA19078.hp2	a0032 a0032	a0032c0032 a0032c0032	a0032c0032t0034 a0032c0032t0034	a0032c0032t0034g0191 a0032c0032t0034g0191	1	344	0.0029	0	c.243 others(4): Show c.2438T>A	p.Leu others(4): Show p.Leu813*	NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	24/30	3531/7899	2438/3336	813/1111		chr1	TogoVar
NBPF9_chr1_149047186_149108551	149082076	C C	A A	stop_gained stop_gained	HIGH	NA21309.hp1 NA21309.hp1	a0021 a0021	a0021c0047 a0021c0047	a0021c0047t0079 a0021c0047t0079	a0021c0047t0079g0264 a0021c0047t0079g0264	1	344	0.0029	0	c.64G others(2): Show c.64G>T	p.Glu others(3): Show p.Glu22*	NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	7/30	1157/7899	64/3336	22/1111		chr1	TogoVar
NCAPD2_chr12_6489102_6536955	6509734	C C	T T	stop_gained stop_gained	HIGH	HG02970.hp2 HG02970.hp2	a0012 a0012	a0012c0034 a0012c0034	a0012c0034t0005 a0012c0034t0005	a0012c0034t0005g0278 a0012c0034t0005g0278	1	432	0.0023	0	c.145 others(3): Show c.145C>T	p.Arg others(3): Show p.Arg49*	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	3/32	221/4825	145/4206	49/1401		chr12	TogoVar
NCAPG2_chr7_158626169_158709804	158679980	T T	A A	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0002 a0016c0012t0002	a0016c0012t0002g0042 a0016c0012t0002g0042	1	378	0.0027	0	c.112 others(4): Show c.1126A>T	p.Lys others(4): Show p.Lys376*	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	11/28	1246/4049	1126/3432	376/1143		chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158679983	G G	A A	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0002 a0016c0012t0002	a0016c0012t0002g0042 a0016c0012t0002g0042	1	378	0.0027	0	c.112 others(4): Show c.1123C>T	p.Gln others(4): Show p.Gln375*	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	11/28	1243/4049	1123/3432	375/1143		chr7	TogoVar
NCBP3_chr17_3797158_3851246	3816212	T T	A A	stop_gained stop_gained	HIGH	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0099 a0003c0008t0099	a0003c0008t0099g0226 a0003c0008t0099g0226	1	370	0.0027	0	c.136 others(4): Show c.1369A>T	p.Lys others(4): Show p.Lys457*	NCBP3	ENSG00000074356.17	transcript	ENST00000389005.6	protein_coding	11/13	1392/12772	1369/1863	457/620		chr17	TogoVar
NCOA1_chr2_24486254_24775702	24758059	G G	GGAAAAGA others(35): Show GGAAAAGATATATTGGAAATTTGTATGTATAGAATTTATATTC	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0149 a0003c0009t0001g0149	1	314	0.0032	42	c.396 others(51): Show c.3968_3969insGAAAAGATATATTGGAAATTTGTATGTATAGAATTT ATATTC	p.Gly others(57): Show p.Gly1323_Gly1324insLysArgTyrIleGlyAsnLeuTyrValTer AsnLeuTyrSer	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	21/23	4713/7381	3969/4326	1323/1441		chr2	TogoVar
NCOA6_chr20_34709774_34830651	34742019	C C	A A	stop_gained stop_gained	HIGH	NA19072.hp2 NA19072.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0083 a0009c0012t0002g0083	1	290	0.0035	0	c.423 others(4): Show c.4237G>T	p.Glu others(5): Show p.Glu1413*	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	11/15	4580/7083	4237/6192	1413/2063		chr20	TogoVar
NCOA7_chr6_125785960_125937034	125815403	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0003 a0006c0014t0003	a0006c0014t0003g0249 a0006c0014t0003g0249	1	270	0.0037	0	c.49C others(2): Show c.49C>T	p.Arg others(3): Show p.Arg17*	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/16	221/6264	49/2829	17/942		chr6	TogoVar
NCSTN_chr1_160338383_160363949	160357181	C C	G G	stop_gained stop_gained	HIGH	NA19072.hp1 NA19072.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0007 a0007c0013t0001g0007	1	448	0.0022	0	c.193 others(4): Show c.1935C>G	p.Tyr others(4): Show p.Tyr645*	NCSTN	ENSG00000162736.18	transcript	ENST00000294785.10	protein_coding	16/17	1949/2822	1935/2130	645/709		chr1	TogoVar
NCSTN_chr1_160338383_160363949	160357189	G G	A A	stop_gained stop_gained	HIGH	NA19072.hp1 NA19072.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0007 a0007c0013t0001g0007	1	448	0.0022	0	c.194 others(4): Show c.1943G>A	p.Trp others(4): Show p.Trp648*	NCSTN	ENSG00000162736.18	transcript	ENST00000294785.10	protein_coding	16/17	1957/2822	1943/2130	648/709		chr1	TogoVar
NDC1_chr1_53760478_53843296	53832582	C C	CCTTTTGT others(32): Show CCTTTTGTGCTTTTTTTTTTTTTTGTCTATTTTGGTTTGT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0128 a0003c0004t0001g0128	1	196	0.0051	39	c.187 others(46): Show c.187_188insACAAACCAAAATAGACAAAAAAAAAAAAAAGCACAAAA G	p.Ser others(50): Show p.Ser63delinsAsnLysProLysTerThrLysLysLysLysSerThrL ysGly	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	3/18	222/4552	187/2025	63/674		chr1	TogoVar
NDUFB7_chr19_14561078_14577066	14566786	C C	T T	stop_gained stop_gained	HIGH	HG02165.hp1 HG02165.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0039 a0004c0004t0001g0039	1	402	0.0025	0	c.260 others(3): Show c.260G>A	p.Trp others(3): Show p.Trp87*	NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding	2/3	326/535	260/414	87/137		chr19	TogoVar
NDUFS3_chr11_47574074_47589562	47580556	C C	CTGACAGA others(4): Show CTGACAGACACG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0057 a0004c0005t0001g0057	1	422	0.0024	11	c.165 others(18): Show c.165_166insTGACAGACACG	p.Lys others(4): Show p.Lys56fs	NDUFS3	ENSG00000213619.11	transcript	ENST00000263774.9	protein_coding	3/7	184/894	166/795	56/264		chr11	TogoVar
NDUFV3_chr21_42888309_42918299	42903610	C C	T T	stop_gained stop_gained	HIGH	HG00609.hp1 HG00621.hp1 HG00639.hp1 others(27): Show HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01496.hp1 HG02080.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp1 NA18612.hp2 NA18941.hp2 NA18952.hp1 NA18959.hp2 NA18965.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp2 NA18993.hp2 NA18994.hp2 NA19004.hp2 NA19056.hp1 NA19065.hp2 NA19080.hp2 NA19085.hp2 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0006 a0003c0004t0007 a0003c0004t0019 others(12): Show a0003c0004t0006 a0003c0004t0007 a0003c0004t0019 a0003c0004t0034 a0003c0004t0035 a0003c0004t0044 a0003c0004t0045 a0003c0004t0046 a0003c0004t0047 a0003c0004t0048 a0003c0004t0049 a0003c0004t0071 a0003c0004t0072 a0003c0005t0001 a0003c0005t0062	a0003c0004t0006g0035 a0003c0004t0006g0128 a0003c0004t0006g0131 others(25): Show a0003c0004t0006g0035 a0003c0004t0006g0128 a0003c0004t0006g0131 a0003c0004t0006g0145 a0003c0004t0006g0149 a0003c0004t0006g0190 a0003c0004t0006g0194 a0003c0004t0006g0197 a0003c0004t0006g0211 a0003c0004t0007g0030 a0003c0004t0007g0142 a0003c0004t0007g0148 a0003c0004t0019g0195 a0003c0004t0019g0196 a0003c0004t0019g0200 a0003c0004t0034g0219 a0003c0004t0035g0218 a0003c0004t0044g0210 a0003c0004t0045g0209 a0003c0004t0046g0134 a0003c0004t0047g0133 a0003c0004t0048g0198 a0003c0004t0049g0129 a0003c0004t0071g0132 a0003c0004t0072g0199 a0003c0005t0001g0023 a0003c0005t0001g0127 a0003c0005t0062g0002	30	348	0.0862	0	c.598 others(3): Show c.598C>T	p.Arg others(4): Show p.Arg200*	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	3/4	623/5725	598/1422	200/473		chr21	TogoVar
NEFH_chr22_29475218_29496390	29489267	G G	GAAGTCAA others(39): Show GAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19089.hp2 NA19089.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0104 a0017c0023t0001g0104	1	448	0.0022	46	c.163 others(55): Show c.1630_1675dupGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAG GAAGAGGCAA	p.Lys others(5): Show p.Lys559fs	NEFH	ENSG00000100285.10	transcript	ENST00000310624.7	protein_coding	4/4	1721/3795	1676/3063	559/1020	INFO_REALIGN_3_PRIME	chr22	TogoVar
NEIL2_chr8_11764710_11792345	11771583	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01106.hp2 HG01106.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0006 a0009c0020t0006	a0009c0020t0006g0024 a0009c0020t0006g0024	1	446	0.0022	0	c.136 others(3): Show c.136C>T	p.Gln others(3): Show p.Gln46*	NEIL2	ENSG00000154328.16	transcript	ENST00000284503.7	protein_coding	2/5	764/2699	136/999	46/332		chr8	TogoVar
NEU2_chr2_233027672_233040057	233034635	C C	T T	stop_gained stop_gained	HIGH	HG03490.hp2 HG03490.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0000 a0010c0014t0000	a0010c0014t0000g0001 a0010c0014t0000g0001	1	454	0.0022	0	c.721 others(3): Show c.721C>T	p.Arg others(4): Show p.Arg241*	NEU2	ENSG00000115488.3	transcript	ENST00000233840.3	protein_coding	2/2	721/1143	721/1143	241/380		chr2	TogoVar
NEUROD1_chr2_181671467_181685517	181678846	G G	C C	stop_gained stop_gained	HIGH	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0008 a0005c0008t0008	a0005c0008t0008g0074 a0005c0008t0008g0074	1	380	0.0026	0	c.15C others(2): Show c.15C>G	p.Tyr others(2): Show p.Tyr5*	NEUROD1	ENSG00000162992.5	transcript	ENST00000295108.4	protein_coding	2/2	114/2493	15/1071	5/356		chr2	TogoVar
NGB_chr14_77260483_77276206	77266661	C C	A A	stop_gained stop_gained	HIGH	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0103 a0003c0006t0001g0103	1	366	0.0027	0	c.331 others(3): Show c.331G>T	p.Glu others(4): Show p.Glu111*	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	4/4	600/1778	331/456	111/151		chr14	TogoVar
NIM1K_chr5_43187225_43285850	43277122	C C	T T	stop_gained stop_gained	HIGH	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0063 a0003c0016t0001g0063	1	292	0.0034	0	c.358 others(3): Show c.358C>T	p.Arg others(4): Show p.Arg120*	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	3/4	1239/2313	358/1311	120/436		chr5	TogoVar
NIM1K_chr5_43187225_43285850	43280490	A A	T T	stop_gained stop_gained	HIGH	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	0	c.107 others(4): Show c.1072A>T	p.Lys others(4): Show p.Lys358*	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4	1953/2313	1072/1311	358/436		chr5	TogoVar
NIM1K_chr5_43187225_43285850	43280563	C C	A A	stop_gained stop_gained	HIGH	HG02165.hp2 HG02165.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0161 a0008c0013t0001g0161	1	292	0.0034	0	c.114 others(4): Show c.1145C>A	p.Ser others(4): Show p.Ser382*	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	4/4	2026/2313	1145/1311	382/436		chr5	TogoVar
NIPAL3_chr1_24410802_24477976	24453456	A A	T T	stop_gained stop_gained	HIGH	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0012 a0003c0009t0012	a0003c0009t0012g0094 a0003c0009t0012g0094	1	380	0.0026	0	c.589 others(3): Show c.589A>T	p.Lys others(4): Show p.Lys197*	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding	7/12	949/5372	589/1221	197/406		chr1	TogoVar
NIPSNAP3A_chr9_104742683_104765120	104752920	C C	T T	stop_gained stop_gained	HIGH	HG02258.hp2 HG02451.hp2 HG02922.hp2 others(3): Show HG02258.hp2 HG02451.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp2 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0049 a0003c0004t0001g0119 a0003c0004t0001g0006 a0003c0004t0001g0049 a0003c0004t0001g0119	6	446	0.0135	0	c.286 others(3): Show c.286C>T	p.Arg others(3): Show p.Arg96*	NIPSNAP3A	ENSG00000136783.10	transcript	ENST00000374767.5	protein_coding	3/6	396/1636	286/744	96/247		chr9	TogoVar
NIT2_chr3_100329757_100366635	100355227	A A	T T	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0092 a0002c0004t0005g0092	1	396	0.0025	0	c.790 others(3): Show c.790A>T	p.Lys others(4): Show p.Lys264*	NIT2	ENSG00000114021.12	transcript	ENST00000394140.9	protein_coding	10/10	825/7233	790/831	264/276		chr3	TogoVar
NLRP14_chr11_7015479_7076526	7039746	A A	T T	stop_gained stop_gained	HIGH	HG02132.hp1 HG02273.hp2 NA18965.hp1 others(3): Show HG02132.hp1 HG02273.hp2 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18982.hp1	a0006 a0006	a0006c0008 a0006c0034 a0006c0008 a0006c0034	a0006c0008t0001 a0006c0034t0001 a0006c0008t0001 a0006c0034t0001	a0006c0008t0001g0014 a0006c0008t0001g0105 a0006c0034t0001g0104 a0006c0008t0001g0014 a0006c0008t0001g0105 a0006c0034t0001g0104	6	346	0.0173	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	NLRP14	ENSG00000158077.5	transcript	ENST00000299481.5	protein_coding	3/12	635/3813	322/3282	108/1093		chr11	TogoVar
NME8_chr7_37843597_37905397	37863462	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02735.hp1 HG02735.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0218 a0017c0036t0001g0218	1	388	0.0026	0	c.454 others(3): Show c.454C>T	p.Gln others(4): Show p.Gln152*	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	8/18	826/2308	454/1767	152/588		chr7	TogoVar
NME8_chr7_37843597_37905397	37867873	G G	T T	stop_gained stop_gained	HIGH	NA18973.hp1 NA18973.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0133 a0016c0030t0001g0133	1	388	0.0026	0	c.793 others(3): Show c.793G>T	p.Gly others(4): Show p.Gly265*	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	11/18	1165/2308	793/1767	265/588		chr7	TogoVar
NME8_chr7_37843597_37905397	37896962	T T	A A	stop_gained stop_gained	HIGH	HG00673.hp1 HG00673.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0001 a0015c0032t0001	a0015c0032t0001g0131 a0015c0032t0001g0131	1	388	0.0026	0	c.163 others(4): Show c.1637T>A	p.Leu others(4): Show p.Leu546*	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	17/18	2009/2308	1637/1767	546/588		chr7	TogoVar
NMUR2_chr5_152386546_152410279	152404645	G G	A A	stop_gained stop_gained	HIGH	HG02015.hp1 HG02080.hp1 HG02129.hp1 others(4): Show HG02015.hp1 HG02080.hp1 HG02129.hp1 HG03927.hp2 HG03942.hp1 NA18947.hp2 NA18977.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0005 a0003c0005t0001 a0003c0005t0005	a0003c0005t0001g0032 a0003c0005t0001g0159 a0003c0005t0001g0160 others(2): Show a0003c0005t0001g0032 a0003c0005t0001g0159 a0003c0005t0001g0160 a0003c0005t0001g0161 a0003c0005t0005g0171	7	446	0.0157	0	c.469 others(3): Show c.469C>T	p.Gln others(4): Show p.Gln157*	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	1/4	635/2059	469/1248	157/415		chr5	TogoVar
NOMO3_chr16_16227528_16299811	16256076	C C	T T	stop_gained stop_gained	HIGH	HG01943.hp2 HG01943.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0006 a0008c0021t0006	a0008c0021t0006g0063 a0008c0021t0006g0063	1	132	0.0076	0	c.113 others(4): Show c.1138C>T	p.Gln others(4): Show p.Gln380*	NOMO3	ENSG00000103226.19	transcript	ENST00000399336.9	protein_coding	11/31	1277/4320	1138/3669	380/1222		chr16	TogoVar
NOMO3_chr16_16227528_16299811	16273756	G G	T T	stop_gained stop_gained	HIGH	HG01074.hp2 HG03490.hp1 NA20805.hp1 HG01074.hp2 HG03490.hp1 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0016 a0004c0006t0001g0017 a0004c0006t0001g0009 a0004c0006t0001g0016 a0004c0006t0001g0017	3	132	0.0227	0	c.212 others(4): Show c.2122G>T	p.Glu others(4): Show p.Glu708*	NOMO3	ENSG00000103226.19	transcript	ENST00000399336.9	protein_coding	19/31	2261/4320	2122/3669	708/1222		chr16	TogoVar
NOP14_chr4_2932936_2968406	2939249	G G	A A	stop_gained stop_gained	HIGH	HG01261.hp1 HG01261.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0126 a0017c0027t0001g0126	1	422	0.0024	0	c.241 others(4): Show c.2413C>T	p.Arg others(4): Show p.Arg805*	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	17/18	2500/3556	2413/2574	805/857		chr4	TogoVar
NOS3_chr7_150986017_151019588	150998588	C C	T T	stop_gained stop_gained	HIGH	HG02559.hp1 HG02559.hp1	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0001 a0009c0035t0001	a0009c0035t0001g0068 a0009c0035t0001g0068	1	382	0.0026	0	c.724 others(3): Show c.724C>T	p.Arg others(4): Show p.Arg242*	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	7/27	1059/4366	724/3612	242/1203		chr7	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149463506	G G	A A	stop_gained stop_gained	HIGH	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	0	c.485 others(3): Show c.485G>A	p.Trp others(4): Show p.Trp162*	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	4/5	652/8729	485/882	162/293		chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120793815	C C	T T	stop_gained stop_gained	HIGH	HG03017.hp1 HG03017.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0014 a0007c0011t0014	a0007c0011t0014g0149 a0007c0011t0014g0149	1	164	0.0061	0	c.820 others(3): Show c.820C>T	p.Arg others(4): Show p.Arg274*	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	5/5	1053/2089	820/825	274/274		chr1	TogoVar
NOX5_chr15_69009695_69067762	69035397	G G	A A	stop_gained stop_gained	HIGH	HG02257.hp1 HG02280.hp1 HG02280.hp2 others(8): Show HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02896.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 NA20300.hp2	a0005 a0007 a0005 a0007	a0005c0006 a0005c0008 a0007c0010 a0005c0006 a0005c0008 a0007c0010	a0005c0006t0006 a0005c0006t0028 a0005c0008t0006 others(2): Show a0005c0006t0006 a0005c0006t0028 a0005c0008t0006 a0005c0008t0018 a0007c0010t0006	a0005c0006t0006g0296 a0005c0006t0006g0297 a0005c0006t0006g0299 others(7): Show a0005c0006t0006g0296 a0005c0006t0006g0297 a0005c0006t0006g0299 a0005c0006t0006g0300 a0005c0006t0028g0298 a0005c0008t0006g0294 a0005c0008t0006g0295 a0005c0008t0006g0301 a0005c0008t0018g0082 a0007c0010t0006g0044	11	396	0.0278	0	c.899 others(3): Show c.899G>A	p.Trp others(4): Show p.Trp300*	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	6/16	940/8405	899/2298	300/765		chr15	TogoVar
NOXO1_chr16_1973917_1986469	1981162	G G	T T	stop_gained stop_gained	HIGH	NA19004.hp1 NA19004.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0029 a0005c0008t0002g0029	1	442	0.0023	0	c.18C others(2): Show c.18C>A	p.Tyr others(2): Show p.Tyr6*	NOXO1	ENSG00000196408.12	transcript	ENST00000356120.9	protein_coding	1/8	308/1541	18/1116	6/371		chr16	TogoVar
NPAS3_chr14_32933879_33809173	32939344	C C	T T	stop_gained stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0072 a0003c0010t0003g0072	1	92	0.0109	0	c.28C others(2): Show c.28C>T	p.Gln others(3): Show p.Gln10*	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/12	466/6304	28/2802	10/933		chr14	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
NPC1L1_chr7_44507535_44546330	44521030	C C	T T	stop_gained stop_gained	HIGH	HG03471.hp2 HG03471.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0132 a0014c0026t0001g0132	1	320	0.0031	0	c.304 others(4): Show c.3042G>A	p.Trp others(5): Show p.Trp1014*	NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	13/19	3113/4982	3042/3999	1014/1332		chr7	TogoVar
NPHP3_chr3_132675609_132727409	132699988	C C	T T	stop_gained stop_gained	HIGH	HG00621.hp1 HG00621.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0107 a0010c0020t0002g0107	1	342	0.0029	0	c.181 others(4): Show c.1817G>A	p.Trp others(4): Show p.Trp606*	NPHP3	ENSG00000113971.21	transcript	ENST00000337331.10	protein_coding	12/27	1871/5348	1817/3993	606/1330		chr3	TogoVar

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