Joint Open Genome and Omics Platform (JoGo)

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
CEP295NL_chr17_78885579_78908201	78891576	G G	A A	stop_gained stop_gained	HIGH	NA18957.hp2 NA18971.hp2 NA18980.hp1 others(4): Show NA18957.hp2 NA18971.hp2 NA18980.hp1 NA18981.hp2 NA18988.hp1 NA19005.hp1 NA19066.hp2	a0007 a0007	a0007c0007 a0007c0024 a0007c0007 a0007c0024	a0007c0007t0002 a0007c0024t0002 a0007c0007t0002 a0007c0024t0002	a0007c0007t0002g0016 a0007c0007t0002g0049 a0007c0024t0002g0209 a0007c0007t0002g0016 a0007c0007t0002g0049 a0007c0024t0002g0209	7	430	0.0163	0	c.928 others(3): Show c.928C>T	p.Gln others(4): Show p.Gln310*	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	3/3	1094/2091	928/1866	310/621		chr17	TogoVar
CEP57L1_chr6_109090507_109179418	109150237	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02630.hp1 HG02630.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0077 a0006c0008t0077	a0006c0008t0077g0212 a0006c0008t0077g0212	1	228	0.0044	0	c.460 others(3): Show c.460C>T	p.Gln others(4): Show p.Gln154*	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	4/11	532/12903	460/1383	154/460		chr6	TogoVar
CEP57_chr11_95785498_95837693	95827982	C C	A A	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.108 others(4): Show c.1082C>A	p.Ser others(4): Show p.Ser361*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1283/3141	1082/1503	361/500		chr11	TogoVar
CEP57_chr11_95785498_95837693	95827984	G G	T T	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.108 others(4): Show c.1084G>T	p.Glu others(4): Show p.Glu362*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1285/3141	1084/1503	362/500		chr11	TogoVar
CEP57_chr11_95785498_95837693	95828000	T T	G G	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0088 a0004c0009t0001g0088	1	340	0.0029	0	c.110 others(4): Show c.1100T>G	p.Leu others(4): Show p.Leu367*	CEP57	ENSG00000166037.11	transcript	ENST00000325542.10	protein_coding	9/11	1301/3141	1100/1503	367/500		chr11	TogoVar
CEP89_chr19_32870925_32976958	32933646	T T	A A	stop_gained stop_gained	HIGH	NA19058.hp2 NA19058.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0003 a0010c0020t0003	a0010c0020t0003g0122 a0010c0020t0003g0122	1	386	0.0026	0	c.691 others(3): Show c.691A>T	p.Arg others(4): Show p.Arg231*	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	8/19	775/5673	691/2352	231/783		chr19	TogoVar
CEP97_chr3_101719614_101775562	101762489	C C	T T	stop_gained stop_gained	HIGH	HG02027.hp1 HG02027.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0051 a0007c0014t0001g0051	1	352	0.0028	0	c.182 others(4): Show c.1822C>T	p.Arg others(4): Show p.Arg608*	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding	10/11	1885/7672	1822/2598	608/865		chr3	TogoVar
CERKL_chr2_181531672_181662105	181539168	C C	A A	stop_gained stop_gained	HIGH	HG01175.hp1 HG01175.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0285 a0008c0017t0001g0285	1	298	0.0034	0	c.146 others(4): Show c.1462G>T	p.Glu others(4): Show p.Glu488*	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	12/13	1561/3210	1462/1599	488/532		chr2	TogoVar
CES3_chr16_66956266_66980149	66971316	C C	T T	stop_gained stop_gained	HIGH	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0014 a0006c0009t0011 a0006c0009t0014	a0006c0009t0011g0068 a0006c0009t0014g0069 a0006c0009t0011g0068 a0006c0009t0014g0069	2	330	0.0061	0	c.128 others(4): Show c.1288C>T	p.Arg others(4): Show p.Arg430*	CES3	ENSG00000172828.13	transcript	ENST00000303334.9	protein_coding	10/13	1330/3858	1288/1716	430/571		chr16	TogoVar
CES5A_chr16_55841154_55880373	55846597	C C	A A	stop_gained stop_gained	HIGH	HG02257.hp1 HG02257.hp1	a0040 a0040	a0040c0058 a0040c0058	a0040c0058t0002 a0040c0058t0002	a0040c0058t0002g0330 a0040c0058t0002g0330	1	449	0.0022	0	c.158 others(4): Show c.1582G>T	p.Gly others(4): Show p.Gly528*	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	13/13	1734/2177	1582/1728	528/575		chr16	TogoVar
CES5A_chr16_55841154_55880373	55869642	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show HG01168.hp1 HG02109.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 NA18522.hp2	a0007 a0011 a0007 a0011	a0007c0020 a0007c0021 a0007c0068 others(6): Show a0007c0020 a0007c0021 a0007c0068 a0007c0069 a0007c0070 a0007c0071 a0011c0026 a0011c0047 a0011c0048	a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 others(7): Show a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 a0007c0068t0004 a0007c0069t0003 a0007c0070t0005 a0007c0071t0004 a0011c0026t0001 a0011c0047t0002 a0011c0048t0001	a0007c0020t0001g0364 a0007c0020t0001g0365 a0007c0020t0003g0118 others(11): Show a0007c0020t0001g0364 a0007c0020t0001g0365 a0007c0020t0003g0118 a0007c0021t0001g0360 a0007c0021t0001g0361 a0007c0021t0001g0366 a0007c0068t0004g0131 a0007c0069t0003g0102 a0007c0070t0005g0156 a0007c0071t0004g0106 a0011c0026t0001g0241 a0011c0026t0001g0299 a0011c0047t0002g0308 a0011c0048t0001g0236	14	449	0.0312	0	c.520 others(3): Show c.520C>T	p.Gln others(4): Show p.Gln174*	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/13	672/2177	520/1728	174/575		chr16	TogoVar
CES5A_chr16_55841154_55880373	55873900	G G	A A	stop_gained stop_gained	HIGH	HG02155.hp1 HG02155.hp1	a0025 a0025	a0025c0076 a0025c0076	a0025c0076t0002 a0025c0076t0002	a0025c0076t0002g0371 a0025c0076t0002g0371	1	449	0.0022	0	c.211 others(3): Show c.211C>T	p.Arg others(3): Show p.Arg71*	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	2/13	363/2177	211/1728	71/575		chr16	TogoVar
CFAP107_chr1_12741200_12768699	12746530	G G	T T	stop_gained stop_gained	HIGH	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0022 a0007c0009t0002g0022	1	336	0.0030	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	CFAP107	ENSG00000157330.10	transcript	ENST00000614859.5	protein_coding	1/4	331/3564	100/585	34/194		chr1	TogoVar
CFAP141_chr1_154194085_154211333	154200542	G G	A A	stop_gained stop_gained	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0111 a0002c0005t0001g0111	1	372	0.0027	0	c.121 others(3): Show c.121C>T	p.Gln others(3): Show p.Gln41*	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	3/4	147/674	121/306	41/101		chr1	TogoVar
CFAP157_chr9_127701988_127721002	127713033	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp1 HG03516.hp1 HG02723.hp1 HG03516.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0010 a0007c0011t0010	a0007c0011t0010g0023 a0007c0011t0010g0023	2	354	0.0057	0	c.131 others(4): Show c.1318C>T	p.Gln others(4): Show p.Gln440*	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding	8/9	1362/3704	1318/1563	440/520		chr9	TogoVar
CFAP251_chr12_121913592_122008919	121934313	A A	T T	stop_gained stop_gained	HIGH	NA19060.hp2 NA19060.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0115 a0010c0022t0001g0115	1	354	0.0028	0	c.955 others(3): Show c.955A>T	p.Lys others(4): Show p.Lys319*	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	5/22	1079/3729	955/3450	319/1149		chr12	TogoVar
CFAP276_chr1_109100951_109117747	109107936	G G	T T	stop_gained stop_gained	HIGH	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0068 a0006c0007t0001g0068	1	404	0.0025	0	c.183 others(3): Show c.183C>A	p.Tyr others(3): Show p.Tyr61*	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding	2/5	251/655	183/510	61/169		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109108012	T T	TGTGTTGG others(463): Show TGTGTTGGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTCAAGGGCAATT CACATTTATTTCCTGAGCATGCTGACTAAACATACTTCAAACACAGCAGA AGGTAAAGAGTCTGTTTTGTAAGTAAAGCCGTTTCTTGCCAACAGCGAAT GGTGGTCCATGAAGAGTACCTTGAGCATCATCTTCAAGCTGAGGCTCCAG CTCTGGGCAAACAGCTGCTGGGTGGACCTGGTCCTTCTGGCCTGGATGGG GGCCTCCAAGGAACTACTTGTTCTCATACTTGTGCTTGATGTGTTTCCAC AGCTTCCCCTCGTTGATGTGGTCGTAGATAGCGTCCGCGCCTTGATCGAA GGCGCGCTCGAAGAACATGACGCCCACGATGATGGTGAGGGCGAAGGTGG AGGTCCTGCGGAACAGCAGGGAGTACAATTTCGAAGTCAACGTCGCGGCC GCCATGTTTCTTCACAGTCCC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01934.hp1 HG03098.hp2 NA20752.hp1 HG01934.hp1 HG03098.hp2 NA20752.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	3	404	0.0074	470	c.106 others(477): Show c.106_107insGGGACTGTGAAGAAACATGGCGGCCGCGACGTTGACTT CGAAATTGTACTCCCTGCTGTTCCGCAGGACCTCCACCTTCGCCCTCACC ATCATCGTGGGCGTCATGTTCTTCGAGCGCGCCTTCGATCAAGGCGCGGA CGCTATCTACGACCACATCAACGAGGGGAAGCTGTGGAAACACATCAAGC ACAAGTATGAGAACAAGTAGTTCCTTGGAGGCCCCCATCCAGGCCAGAAG GACCAGGTCCACCCAGCAGCTGTTTGCCCAGAGCTGGAGCCTCAGCTTGA AGATGATGCTCAAGGTACTCTTCATGGACCACCATTCGCTGTTGGCAAGA AACGGCTTTACTTACAAAACAGACTCTTTACCTTCTGCTGTGTTTGAAGT ATGTTTAGTCAGCATGCTCAGGAAATAAATGTGAATTGCCCTTGAAAAAA AAAAAAAAAAAAAAAAAAAAAGAACCCAACAC	p.His others(4): Show p.His36fs	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding	2/5	174/655	106/510	36/169		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109108012	T T	TGTGTTGG others(464): Show TGTGTTGGGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAAGGGCAAT TCACATTTATTTCCTGAGCATGCTGACTAAACATACTTCAAACACAGCAG AAGGTAAAGAGTCTGTTTTGTAAGTAAAGCCGTTTCTTGCCAACAGCGAA TGGTGGTCCATGAAGAGTACCTTGAGCATCATCTTCAAGCTGAGGCTCCA GCTCTGGGCAAACAGCTGCTGGGTGGACCTGGTCCTTCTGGCCTGGATGG GGGCCTCCAAGGAACTACTTGTTCTCATACTTGTGCTTGATGTGTTTCCA CAGCTTCCCCTCGTTGATGTGGTCGTAGATAGCGTCCGCGCCTTGATCGA AGGCGCGCTCGAAGAACATGACGCCCACGATGATGGTGAGGGCGAAGGTG GAGGTCCTGCGGAACAGCAGGGAGTACAATTTCGAAGTCAACGTCGCGGC CGCCATGTTTCTTCACAGTCCC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01243.hp1 HG02559.hp1 HG01243.hp1 HG02559.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0046 a0005c0006t0001g0055 a0005c0006t0001g0046 a0005c0006t0001g0055	2	404	0.0050	471	c.106 others(478): Show c.106_107insGGGACTGTGAAGAAACATGGCGGCCGCGACGTTGACTT CGAAATTGTACTCCCTGCTGTTCCGCAGGACCTCCACCTTCGCCCTCACC ATCATCGTGGGCGTCATGTTCTTCGAGCGCGCCTTCGATCAAGGCGCGGA CGCTATCTACGACCACATCAACGAGGGGAAGCTGTGGAAACACATCAAGC ACAAGTATGAGAACAAGTAGTTCCTTGGAGGCCCCCATCCAGGCCAGAAG GACCAGGTCCACCCAGCAGCTGTTTGCCCAGAGCTGGAGCCTCAGCTTGA AGATGATGCTCAAGGTACTCTTCATGGACCACCATTCGCTGTTGGCAAGA AACGGCTTTACTTACAAAACAGACTCTTTACCTTCTGCTGTGTTTGAAGT ATGTTTAGTCAGCATGCTCAGGAAATAAATGTGAATTGCCCTTGAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAACCCAACAC	p.Thr others(482): Show p.Thr35_His36insArgAspCysGluGluThrTrpArgProArgArgT erLeuArgAsnCysThrProCysCysSerAlaGlyProProProSerPro SerProSerSerTrpAlaSerCysSerSerSerAlaProSerIleLysAl aArgThrLeuSerThrThrThrSerThrArgGlySerCysGlyAsnThrS erSerThrSerMetArgThrSerSerSerLeuGluAlaProIleGlnAla ArgArgThrArgSerThrGlnGlnLeuPheAlaGlnSerTrpSerLeuSe rLeuLysMetMetLeuLysValLeuPheMetAspHisHisSerLeuLeuA laArgAsnGlyPheThrTyrLysThrAspSerLeuProSerAlaValPhe GluValCysLeuValSerMetLeuArgLysTerMetTerIleAlaLeuGl uLysLysLysLysLysLysLysLysLysAsnProThr	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding	2/5	174/655	106/510	36/169		chr1	TogoVar
CFAP45_chr1_159867364_159905165	159873104	G G	A A	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0253 a0012c0016t0001g0253	1	410	0.0024	0	c.141 others(4): Show c.1417C>T	p.Gln others(4): Show p.Gln473*	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	11/12	1484/1844	1417/1656	473/551		chr1	TogoVar
CFAP47_chrX_35914734_36390317	35919809	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp2 HG02723.hp2	a0022 a0022	a0022c0078 a0022c0078	a0022c0078t0003 a0022c0078t0003	a0022c0078t0003g0134 a0022c0078t0003g0134	1	216	0.0046	0	c.10C others(2): Show c.10C>T	p.Gln others(2): Show p.Gln4*	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/64	76/9941	10/9564	4/3187		chrX	TogoVar
CFAP54_chr12_96484577_96880555	96538444	A A	T T	stop_gained stop_gained	HIGH	HG02145.hp2 HG02145.hp2	a0037 a0037	a0037c0062 a0037c0062	a0037c0062t0001 a0037c0062t0001	a0037c0062t0001g0054 a0037c0062t0001g0054	1	268	0.0037	0	c.185 others(4): Show c.1852A>T	p.Lys others(4): Show p.Lys618*	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	13/68	1885/9776	1852/9291	618/3096		chr12	TogoVar
CFAP57_chr1_43167330_43259358	43234282	C C	T T	stop_gained stop_gained	HIGH	NA19062.hp1 NA19062.hp1	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0001 a0023c0038t0001	a0023c0038t0001g0119 a0023c0038t0001g0119	1	308	0.0033	0	c.313 others(4): Show c.3130C>T	p.Arg others(5): Show p.Arg1044*	CFAP57	ENSG00000243710.8	transcript	ENST00000372492.9	protein_coding	20/23	3273/4063	3130/3753	1044/1250		chr1	TogoVar
CFAP65_chr2_218997846_219046516	219021206	T T	A A	stop_gained stop_gained	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0227 a0023c0027t0001g0227	1	322	0.0031	0	c.320 others(4): Show c.3205A>T	p.Lys others(5): Show p.Lys1069*	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding	19/35	3282/5946	3205/5778	1069/1925		chr2	TogoVar
CFAP90_chr5_7825378_7856133	7835432	G G	A A	stop_gained stop_gained	HIGH	HG02132.hp2 NA18939.hp2 NA18946.hp1 others(13): Show HG02132.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18968.hp2 NA18999.hp1 NA19004.hp1 NA19070.hp1 NA19074.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0083 a0003c0003t0001g0091 a0003c0003t0001g0003 a0003c0003t0001g0083 a0003c0003t0001g0091	16	420	0.0381	0	c.214 others(3): Show c.214C>T	p.Arg others(3): Show p.Arg72*	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	2/3	326/2028	214/444	72/147		chr5	TogoVar
CFAP99_chr4_2413955_2468002	2436982	C C	T T	stop_gained stop_gained	HIGH	NA18975.hp1 NA18975.hp1	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0001 a0009c0038t0001	a0009c0038t0001g0292 a0009c0038t0001g0292	1	350	0.0029	0	c.220 others(3): Show c.220C>T	p.Arg others(3): Show p.Arg74*	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	3/16	376/2173	220/1941	74/646		chr4	TogoVar
CFAP99_chr4_2413955_2468002	2445228	A A	T T	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0010 a0010	a0010c0033 a0010c0033	a0010c0033t0001 a0010c0033t0001	a0010c0033t0001g0200 a0010c0033t0001g0200	1	350	0.0029	0	c.562 others(3): Show c.562A>T	p.Lys others(4): Show p.Lys188*	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/16	718/2173	562/1941	188/646		chr4	TogoVar
CFHR1_chr1_196814731_196837189	196826962	T T	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0001 a0005c0009t0001g0001	1	275	0.0036	0	c.387 others(3): Show c.387T>A	p.Cys others(4): Show p.Cys129*	CFHR1	ENSG00000244414.8	transcript	ENST00000320493.10	protein_coding	3/6	501/1297	387/993	129/330		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196914648	G G	A A	stop_gained stop_gained	HIGH	HG03831.hp1 HG03831.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0004 a0013c0011t0001g0004	1	350	0.0029	0	c.133 others(4): Show c.1334G>A	p.Trp others(4): Show p.Trp445*	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding	8/10	1433/2063	1334/1737	445/578		chr1	TogoVar
CFHR5_chr1_196972556_197014678	197008677	T T	A A	stop_gained stop_gained	HIGH	HG02965.hp1 NA19043.hp2 HG02965.hp1 NA19043.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0132 a0004c0008t0001g0133 a0004c0008t0001g0132 a0004c0008t0001g0133	2	356	0.0056	0	c.170 others(4): Show c.1704T>A	p.Cys others(4): Show p.Cys568*	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	10/10	1813/2814	1704/1710	568/569		chr1	TogoVar
CGB3_chr19_49017869_49029333	49022911	G G	T T	stop_gained stop_gained	HIGH	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0031 a0005c0007t0008g0031	1	391	0.0026	0	c.473 others(3): Show c.473C>A	p.Ser others(4): Show p.Ser158*	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding	3/3	835/877	473/498	158/165		chr19	TogoVar
CGB5_chr19_49038848_49050311	49045269	C C	A A	stop_gained stop_gained	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0001	1	382	0.0026	0	c.473 others(3): Show c.473C>A	p.Ser others(4): Show p.Ser158*	CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding	3/3	835/877	473/498	158/165		chr19	TogoVar
CHDH_chr3_53807335_53851419	53818151	C C	A A	stop_gained stop_gained	HIGH	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0166 a0006c0014t0001g0166	1	392	0.0026	0	c.141 others(4): Show c.1411G>T	p.Glu others(4): Show p.Glu471*	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	9/9	1878/7694	1411/1785	471/594		chr3	TogoVar
CHGA_chr14_92918150_92940285	92931570	A A	T T	stop_gained stop_gained	HIGH	HG03209.hp1 HG03209.hp1	a0024 a0024	a0024c0032 a0024c0032	a0024c0032t0001 a0024c0032t0001	a0024c0032t0001g0045 a0024c0032t0001g0045	1	447	0.0022	0	c.676 others(3): Show c.676A>T	p.Lys others(4): Show p.Lys226*	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	6/8	886/1985	676/1374	226/457		chr14	TogoVar
CHGA_chr14_92918150_92940285	92931576	G G	T T	stop_gained stop_gained	HIGH	HG03209.hp1 HG03209.hp1	a0024 a0024	a0024c0032 a0024c0032	a0024c0032t0001 a0024c0032t0001	a0024c0032t0001g0045 a0024c0032t0001g0045	1	447	0.0022	0	c.682 others(3): Show c.682G>T	p.Glu others(4): Show p.Glu228*	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	6/8	892/1985	682/1374	228/457		chr14	TogoVar
CHGB_chr20_5906510_5930353	5922682	G G	T T	stop_gained stop_gained	HIGH	HG03669.hp2 HG03669.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0095 a0016c0023t0001g0095	1	440	0.0023	0	c.538 others(3): Show c.538G>T	p.Glu others(4): Show p.Glu180*	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding	4/5	662/2462	538/2034	180/677		chr20	TogoVar
CHIA_chr1_111285851_111325563	111317705	G G	T T	stop_gained stop_gained	HIGH	HG02809.hp1 HG02922.hp2 HG03540.hp1 HG02809.hp1 HG02922.hp2 HG03540.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0133 a0010c0012t0003g0134 a0010c0012t0003g0136 a0010c0012t0003g0133 a0010c0012t0003g0134 a0010c0012t0003g0136	3	426	0.0070	0	c.505 others(3): Show c.505G>T	p.Glu others(4): Show p.Glu169*	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	7/12	673/1696	505/1431	169/476		chr1	TogoVar
CHIT1_chr1_203211079_203234673	203217822	C C	CAGACCAT others(17): Show CAGACCATGGCCCCGCCCAGTCCCT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2	a0001 a0009 a0013 others(5): Show a0001 a0009 a0013 a0016 a0017 a0018 a0020 a0023	a0001c0001 a0001c0022 a0001c0025 others(8): Show a0001c0001 a0001c0022 a0001c0025 a0001c0029 a0009c0009 a0013c0015 a0016c0017 a0017c0028 a0018c0027 a0020c0024 a0023c0018	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0001c0025t0001 a0001c0029t0001 a0009c0009t0001 a0013c0015t0001 a0016c0017t0001 a0017c0028t0001 a0018c0027t0001 a0020c0024t0001 a0023c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0048 a0001c0022t0001g0100 a0001c0025t0001g0101 a0001c0029t0001g0116 a0009c0009t0001g0027 a0009c0009t0001g0047 a0009c0009t0001g0125 a0013c0015t0001g0046 a0016c0017t0001g0136 a0017c0028t0001g0102 a0018c0027t0001g0153 a0020c0024t0001g0107 a0023c0018t0001g0096	175	484	0.3616	24	c.104 others(33): Show c.1049_1072dupAGGGACTGGGCGGGGCCATGGTCT	p.Val others(37): Show p.Val357_Trp358insTerGlyLeuGlyGlyAlaMetVal	CHIT1	ENSG00000133063.16	transcript	ENST00000367229.6	protein_coding	10/11	1109/2248	1072/1401	358/466		chr1	TogoVar
CHMP4A_chr14_24204615_24218488	24210370	A A	AGAAGGTA others(6): Show AGAAGGTACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0050 a0007c0005t0001g0050	1	418	0.0024	13	c.575 others(20): Show c.575_587dupCTAGTGTACCTTC	p.Thr others(5): Show p.Thr197fs	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	5/6	636/980	587/669	196/222		chr14	TogoVar
CHMP4A_chr14_24204615_24218488	24210722	G G	A A	stop_gained stop_gained	HIGH	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0065 a0006c0006t0001g0065	1	418	0.0024	0	c.406 others(3): Show c.406C>T	p.Gln others(4): Show p.Gln136*	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	4/6	455/980	406/669	136/222		chr14	TogoVar
CHRDL2_chr11_74691429_74736426	74697229	G G	A A	stop_gained stop_gained	HIGH	NA18942.hp1 NA18942.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0006 a0008c0019t0006	a0008c0019t0006g0339 a0008c0019t0006g0339	1	392	0.0026	0	c.118 others(4): Show c.1189C>T	p.Arg others(4): Show p.Arg397*	CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	10/11	1727/1908	1189/1290	397/429		chr11	TogoVar
CHRND_chr2_232521160_232541664	232530019	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0002 a0005c0018t0001g0002	1	438	0.0023	0	c.700 others(3): Show c.700C>T	p.Gln others(4): Show p.Gln234*	CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	7/12	756/2962	700/1554	234/517		chr2	TogoVar
CHST4_chr16_71521426_71543748	71537518	C C	T T	stop_gained stop_gained	HIGH	HG01361.hp1 HG01361.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0135 a0008c0010t0001g0135	1	418	0.0024	0	c.841 others(3): Show c.841C>T	p.Arg others(4): Show p.Arg281*	CHST4	ENSG00000140835.10	transcript	ENST00000539698.4	protein_coding	2/2	929/2159	841/1161	281/386		chr16	TogoVar
CIPC_chr14_77093258_77122287	77114049	C C	T T	stop_gained stop_gained	HIGH	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0088 a0004c0007t0001g0088	1	426	0.0024	0	c.931 others(3): Show c.931C>T	p.Gln others(4): Show p.Gln311*	CIPC	ENSG00000198894.8	transcript	ENST00000361786.7	protein_coding	4/4	1087/4325	931/1200	311/399		chr14	TogoVar
CKS2_chr9_89306195_89321703	89315103	G G	GGTACATG others(61): Show GGTACATGTATAAAGCGACAGTTGTAGAAAAGGCACTGGACTAACACTTG GCTGTATCTTGTAACAGGC	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	440	0.0023	68	c.60- others(76): Show c.60-66_61dupGTACATGTATAAAGCGACAGTTGTAGAAAAGGCACTG GACTAACACTTGGCTGTATCTTGTAACAGGC	p.His others(4): Show p.His21fs	CKS2	ENSG00000123975.5	transcript	ENST00000314355.7	protein_coding	2/3	160/616	62/240	21/79	INFO_REALIGN_3_PRIME	chr9	TogoVar
CLCN7_chr16_1439935_1480028	1457328	T T	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAT GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01074.hp2 HG03239.hp1 HG01074.hp2 HG03239.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0116 a0005c0014t0001g0117 a0005c0014t0001g0116 a0005c0014t0001g0117	2	404	0.0050	200	c.747 others(207): Show c.747_748insCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCATCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTC CAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTC CAGGAAGGGCCG	p.Met others(5): Show p.Met250fs	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	747/2418	249/805		chr16	TogoVar
CLCNKA_chr1_16017036_16039050	16032231	G G	GAGGGCCC others(9198): Show GAGGGCCCAGCTGGTGCAGGTAAACCTGGGATATGGACCCAGGGTCGTAC TCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTATGGCCTGGTCCTCCC CTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCATCTGG CCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCC CAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGG TATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCGGG CTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTA CGCCAGTCCCCACTGGCCAAAACCTCAGATCCCAGGGGGGAGTCGGGAAG GGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGC CCGAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTG GCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGT GGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGC AGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCC AGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTC ATCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGA ACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTA AATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCGGTGACTCATGCCTGT AATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAG TTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATA GAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCTGAGCTACTC AGGAGGCTGAGGCGGGAGGACTGCTTGAGCTGGGGAATTTGATCCTGCAC TGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACC CCTGTCTGAAACAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGC TGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGT GGACAGATCGCTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGC TAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTA TAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAACCCTGG CAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCAGCCTGGCC AACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGG TTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCGCACAGGTAGAGT GTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCC CGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGT CTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCC TCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGCAAAGTGGTA TGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCA GTCTCACCCCCATCACCCCACGAAAGCTGGGTCAGAGGGGACTTGGGCTG GTCCCTGCCTTCCGGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCC CCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGAT GGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTC TCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCC TTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCA CCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAG AAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATC CTCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGT GGGCGTGGCCACAGTCTTTGGCGCTCCCTTCAGCGGTGAGACCCCTTCAT GCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCT TCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGGCTCATTCTAGTTCT CACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGG GGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTAT ACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCT GAGCCCGGCTTCTTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCG ATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCA GCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTG TCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTG ACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCA CCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGT CTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACC TGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGG TGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAG GGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCGTCT CTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGG AGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAA GGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAAT GCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGC TGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTC CCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGT TTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGT GCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAATATGGCATTCC CCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCAGGCTCTGGGCTCA TGTCTCCATGCTCCCCAGGGGTCTCTGCGGCATCCTGGGCAGCGCTTACC TCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGC TCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTC TCAGCGAGCTCCCCCCCCACCGTACTCCCAACCTTATGTAGAAAGCTCTA CCGGCCACCTGAGCCCCTAAAGCCCATGCCATTATTTTTTCCTGCCCAGA CAATGCCCATGCAGTGATCTGGGCCCCCAAGGACCCAGCTTCACCCCCAC AGCACCCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAA GTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATT TAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCC CTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGT GTGCCCGTGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGC CCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAAT TCTCCTATCAGCCTCTACTCCTAAAAATACCCAGGAGTGTGGGGCTGACC CCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTG CTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGG GATGTGGGAAAGGGAGGACCAGCCCTAGAGCCCACCCATCCCCCACAGCA AGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTAC CCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTG GGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCT CACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTA TAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCG CTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGA GGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCC GCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACT CCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTC GACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTT TGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCA GGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCAT CGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTG CCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCC TCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGG AAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCT CAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGC CGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTC CCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCC ACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTG CCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGG TTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACC CTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGG CCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCT ATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCAT CGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGG CAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGG CTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACT GAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAG CCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGC CCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCA CTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCC TGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGGTGGCCCCTGGCCT GAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGG GCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGG CCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACG CCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTC AAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGT GGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCT GGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTTGGAC ATGGGGGCTGGGAGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTC CCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGT GTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCC CGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTC CAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTC CCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAG AATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAG CTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTC TGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGT TTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTC AAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAA TCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTG CAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAG TAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTT AGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGG CATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTC CAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGA CACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTG GTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGA ACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGC AAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTG TGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTG GAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACT GGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCC TGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTA GGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGC ATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCAC ATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACC CTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTA AGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGG GTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGA GTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGA CAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGA AACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCAT TTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCT GTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCA AGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACC TTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACC CCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACT TAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGA GTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCC CCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATC TCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTC CTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTT ACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTG GGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGG AAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAG AAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCC ATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTA GGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCG CCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACAC ACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTT GCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGC AGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAG ACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAAT GGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGG CTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCT CCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATA GTGCGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19003.hp1 NA19003.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0002 a0019c0030t0002	a0019c0030t0002g0049 a0019c0030t0002g0049	1	392	0.0026	9205	c.180 others(9214): Show c.1804_1805insTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGC CTCTTCTTGGGGGTCTGCACCTCACTGTATGGCCTGGTCCTCCCCTCTTC GTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCATCTGGCCCCGA GGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGC ACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTC TCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCGGGCTTCTC TCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAG TCCCCACTGGCCAAAACCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAG CCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCGAAG GGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTA CCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGG ATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCAGTGGA GGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCA GCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCGGG CTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGAACGTGA ACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAG TTTAAGGACCTTACCCTAGGCTGGGTGCGGTGACTCATGCCTGTAATCCC AGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAG ACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAA AATCAGCTGGGCATGATTGCATGTGCCCGTGGTCTGAGCTACTCAGGAGG CTGAGGCGGGAGGACTGCTTGAGCTGGGGAATTTGATCCTGCACTGAGCA GTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTC TGAAACAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCA CACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAG ATCGCTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACT CCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCC CAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAACCCTGGCAACTG AGGCTGCTGTAAGCTATGATCCTACCACTGTACTCAGCCTGGCCAACAGA GCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGC TGATCTGGCGAGATCGTAATGTGAAAACATCGCACAGGTAGAGTGTTGAG ATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAA GGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGA GGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCT GCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGCAAAGTGGTATGGGCA GGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCA CCCCCATCACCCCACGAAAGCTGGGTCAGAGGGGACTTGGGCTGGTCCCT GCCTTCCGGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAG TGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGA GGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCT GCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGT GCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGA CCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGG GAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCTCCAG AACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGT GGCCACAGTCTTTGGCGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCG CCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCC CAGCTGAGAGCCTGGAGGAGGGGGTGGGGGCTCATTCTAGTTCTCACTTC AGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCG GGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGAC TTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCC GGCTTCTTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCG AGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGC TCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTG TCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGG GGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAG ATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCC ACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGG GCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCC CCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCC CTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCGTCTCTCTCC CTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGG CTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATG AGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGG ACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAG TCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACT GCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGG GTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGTGCTGGG GTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAATATGGCATTCCCCCAAG GCCTGGACTGCGGCCCCTGGTACTGGGGTCAGGCTCTGGGCTCATGTCTC CATGCTCCCCAGGGGTCTCTGCGGCATCCTGGGCAGCGCTTACCTCTTCT GTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAA CTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCG AGCTCCCCCCCCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCGGCC ACCTGAGCCCCTAAAGCCCATGCCATTATTTTTTCCTGCCCAGACAATGC CCATGCAGTGATCTGGGCCCCCAAGGACCCAGCTTCACCCCCACAGCACC CCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCC ACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCC CCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACT GACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCC GTGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGC CTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCT ATCAGCCTCTACTCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAG GTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTC CTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTG GGAAAGGGAGGACCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTG TGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCC AGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGG CAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTA ATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATG ATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGA AGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGG GGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACA GCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGG CGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCC CAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGAC CCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTG CACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGC TGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCT GCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTC TTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAA GGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGT GAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCAC CCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGT CCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCC ACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGT ACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGA GAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCC AGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGT CAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGG CGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGC TGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTG AGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGAC CTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCC TCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCAC CATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCG GCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCC ACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCG CAGCCGTGCCAGCCTTGCCCTAACATGAGGGTGGCCCCTGGCCTGAGCTG CCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTG ACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGAT AGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTG CACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAG CTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCC CACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTG AAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTTGGACATGGGG GCTGGGAGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGT GCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGT CTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTA CAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTG ACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACT CCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGA AATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTG GCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGC CCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCT ATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTT TTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCAC TCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCT CAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTC AGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGA GACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAA GTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGA AGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGG GGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCC AGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCT CCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCT CCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGC CTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCAC TTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGA GGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGG AGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGAT GCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAG GCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACC TGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCT TGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAG TCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTC CGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCC TCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAG CATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTT AACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAA GATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGC CCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACA CCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGC AGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGA GGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCT CTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAG GATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTA ACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCT GAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGAT CAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTC AGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCC CACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGG GACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCA AAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGAT GCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCT CAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAAT GTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGAC TTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATG TGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTC ACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATT AGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGA CAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGT AGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCT GGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGA AGGGCCCAGCTGGTGCAGG	p.Ala others(5): Show p.Ala602fs	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding	17/20	1840/2491	1805/2064	602/687	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCNKB_chr1_16038782_16062308	16044580	C C	T T	stop_gained stop_gained	HIGH	HG01175.hp1 HG01175.hp1	a0029 a0029	a0029c0042 a0029c0042	a0029c0042t0006 a0029c0042t0006	a0029c0042t0006g0045 a0029c0042t0006g0045	1	428	0.0023	0	c.88C others(2): Show c.88C>T	p.Arg others(3): Show p.Arg30*	CLCNKB	ENSG00000184908.20	transcript	ENST00000375679.9	protein_coding	2/20	194/2562	88/2064	30/687		chr1	TogoVar
CLDN22_chr4_183313100_183325276	183319862	C C	CAGCAGTC others(2201): Show CAGCAGTCGCCTCTTGAGATCTCTCTGACTCTCTCCAATTCTCAAACAGT CCAGGCCAAACCCAGAGACCAGCAGGCCCAGAAATCCCAGCCCATTTGAC AGAAACATTAAGATCCTGGAGACCCTGAGTTCAGCAGGCAAAGCCAGGAA GGAGTCAAAGTCCTTGCATTGCATCCCCACTTCCTCTTGGATGACACAGG TTTGCCAGAGTCCCATGGTCCAGTTTTCCATTTCATTTAAGTCCAGGTTG AGGTTCTTCCAGTGTGGCAGGTAGTTTGTAAGACAGGATAAAACCCATCC CAGCAAAGATAATGAAACTCCAGCTAGTTGAGCTACAGTTCTAAATACTA AAGCCATTATAATGTCCTGAGAGCTTTAGCCAAACTAACTCCTGCCCTTC GGTTGCTGTGAAAAGAAGTGTGACACTTGTGTTATAACTTATGAAACTCA GAAATATTTCTTCATTGTGTATATAGGAGGATTCTTGCCAGAGTTGCTAT TGTTTGATTCCATGTTGAATGGGTTTCACAAAATGATAGGGAAATAATGC CGCCAACCAGTAATGCCAAGGTGTGGCCAAGATTGTGTTTGTGTCCTGTG GGCTGGATTTGACAGAAAGCAGTTTGTCACTGAAATATAATTAAGTGATA ATCTCCTTTCATTGTCAAGGTTAAAATGGCTTTCATGTTATTCCCAACCT TTCTAACAAAGAATTAAGTCTAAATGCAAAATGTTTAACTGATGGTTTTG GTTCAACTCCTCCTGCTTTGTGTTTCACTAACTGCACCTGTCAGATTTTC ATCTCTTATAGTTCTCACATTTCAAATGTGCATGTTATGGTAATACTGAG TGTTATTTTTTAAAAATAGGTTTAAGAAAAGTATTTCTTAACCAAATAAA TCAATCTTATCAGAAATCTCTCTACACCTTAACTCACTCCTGCGTTTCAG AAATTCCTCAGGCTACATATACCACATGGCATATGAAGCAATACTGAACT ACAGATCTAGTTTATTTATCTGCATGCCTTTCTGTCAAATTCACGCTTGT GTGCATAAACACTTTTTTTTCTTATATATGCTTTCTGTGCCGAGGAAAGT TCAGCATTTGGACTCTGCAGGTTGGAGTCAGCATTTCTGTTTATTCACCA CTAAAGTAGATATCCCCATGTTAGCGATTTTTCATTGAACAAAGGAAAGG TTTTATTCAAATGACCTGACAATATCAGGATATCAAGAAAAATGTCTTTG GAATTGTTTTTCTTTTTTTAATACGAAGGTTTTGAGGGAAAGGATGAGAG AAGAGATTGGCCACCATTTTAAATCTGAGAGGATCACAAGGTACTGAAAA CTCTTCAGCCTCATAAAATCTTGCCGCACTGAGTGCCTGGTAATATCCTA AAAACAAACCACTTCTGTTCAAAGAAGAAAAAGGTCATTGTTGTGGAAAT AACACTTTGAGGTTGGCTTAGCATGTGGTTTTGCTAAAGTAGAACACTTA AAATTTTCAGATTGTTAGTTTTTTTCTTTAGGAAACAGAAACTAAAGATC ATTTCTGACTACCAACAGCAACAACAAAAAAAAGAAAAACAGAAAAAAGC TTTCTAATATGAAATTTACACATTAAAGCTTGAAACTGACTGTATTGGAC AGCCACCACATTAATTTCAATAACCAGATCAATGAAGCTTGTTTCACTTC TACCTGTATAATGCTTACCATAATCATTTTCTTTTAGATAAAAGATTTTT CCTTCATTATTCAGATTTTAGAGGGAAGTGGGTCTACCTACTGTAGAAAA ATAGTGAATGAGAAAACGTGAGCATCACAGGTTTAGCTACAAAACAAAGA GGTCTTTGTCATCACAGTTGATACAGGATACATCTCTGGCCTTGTCGGAG TCTTACACTTGAGGATCTGCTGTCCCATCTTCCAGGTAGGGACACTGAGT TTGCATTTGCGCCACTGCATAGTGGCCCAAAGCTAGGGGAGCGTGGCTGG AGCAGGCTGCGCAGTTGAGCAGACACCCTCCTAGCAGAAGAGAAAGTCCA GCAAACCAGCCCAGAAACAGGGCCTCCCCAAACTCCCACCTGGGGACAAA GTCTGGGACGTTCTCATCCCAGAACTCCTGAACCGTCTTGTGGGCAACCC AAGAGACGGGAACCAGGGCTGTGATTCCCGAGGCCCAGGACAGAATTCCT CCCAGAATG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0000 a0005c0008t0001g0000	1	446	0.0022	2208	c.356 others(2215): Show c.356_357insCATTCTGGGAGGAATTCTGTCCTGGGCCTCGGGAATCA CAGCCCTGGTTCCCGTCTCTTGGGTTGCCCACAAGACGGTTCAGGAGTTC TGGGATGAGAACGTCCCAGACTTTGTCCCCAGGTGGGAGTTTGGGGAGGC CCTGTTTCTGGGCTGGTTTGCTGGACTTTCTCTTCTGCTAGGAGGGTGTC TGCTCAACTGCGCAGCCTGCTCCAGCCACGCTCCCCTAGCTTTGGGCCAC TATGCAGTGGCGCAAATGCAAACTCAGTGTCCCTACCTGGAAGATGGGAC AGCAGATCCTCAAGTGTAAGACTCCGACAAGGCCAGAGATGTATCCTGTA TCAACTGTGATGACAAAGACCTCTTTGTTTTGTAGCTAAACCTGTGATGC TCACGTTTTCTCATTCACTATTTTTCTACAGTAGGTAGACCCACTTCCCT CTAAAATCTGAATAATGAAGGAAAAATCTTTTATCTAAAAGAAAATGATT ATGGTAAGCATTATACAGGTAGAAGTGAAACAAGCTTCATTGATCTGGTT ATTGAAATTAATGTGGTGGCTGTCCAATACAGTCAGTTTCAAGCTTTAAT GTGTAAATTTCATATTAGAAAGCTTTTTTCTGTTTTTCTTTTTTTTGTTG TTGCTGTTGGTAGTCAGAAATGATCTTTAGTTTCTGTTTCCTAAAGAAAA AAACTAACAATCTGAAAATTTTAAGTGTTCTACTTTAGCAAAACCACATG CTAAGCCAACCTCAAAGTGTTATTTCCACAACAATGACCTTTTTCTTCTT TGAACAGAAGTGGTTTGTTTTTAGGATATTACCAGGCACTCAGTGCGGCA AGATTTTATGAGGCTGAAGAGTTTTCAGTACCTTGTGATCCTCTCAGATT TAAAATGGTGGCCAATCTCTTCTCTCATCCTTTCCCTCAAAACCTTCGTA TTAAAAAAAGAAAAACAATTCCAAAGACATTTTTCTTGATATCCTGATAT TGTCAGGTCATTTGAATAAAACCTTTCCTTTGTTCAATGAAAAATCGCTA ACATGGGGATATCTACTTTAGTGGTGAATAAACAGAAATGCTGACTCCAA CCTGCAGAGTCCAAATGCTGAACTTTCCTCGGCACAGAAAGCATATATAA GAAAAAAAAGTGTTTATGCACACAAGCGTGAATTTGACAGAAAGGCATGC AGATAAATAAACTAGATCTGTAGTTCAGTATTGCTTCATATGCCATGTGG TATATGTAGCCTGAGGAATTTCTGAAACGCAGGAGTGAGTTAAGGTGTAG AGAGATTTCTGATAAGATTGATTTATTTGGTTAAGAAATACTTTTCTTAA ACCTATTTTTAAAAAATAACACTCAGTATTACCATAACATGCACATTTGA AATGTGAGAACTATAAGAGATGAAAATCTGACAGGTGCAGTTAGTGAAAC ACAAAGCAGGAGGAGTTGAACCAAAACCATCAGTTAAACATTTTGCATTT AGACTTAATTCTTTGTTAGAAAGGTTGGGAATAACATGAAAGCCATTTTA ACCTTGACAATGAAAGGAGATTATCACTTAATTATATTTCAGTGACAAAC TGCTTTCTGTCAAATCCAGCCCACAGGACACAAACACAATCTTGGCCACA CCTTGGCATTACTGGTTGGCGGCATTATTTCCCTATCATTTTGTGAAACC CATTCAACATGGAATCAAACAATAGCAACTCTGGCAAGAATCCTCCTATA TACACAATGAAGAAATATTTCTGAGTTTCATAAGTTATAACACAAGTGTC ACACTTCTTTTCACAGCAACCGAAGGGCAGGAGTTAGTTTGGCTAAAGCT CTCAGGACATTATAATGGCTTTAGTATTTAGAACTGTAGCTCAACTAGCT GGAGTTTCATTATCTTTGCTGGGATGGGTTTTATCCTGTCTTACAAACTA CCTGCCACACTGGAAGAACCTCAACCTGGACTTAAATGAAATGGAAAACT GGACCATGGGACTCTGGCAAACCTGTGTCATCCAAGAGGAAGTGGGGATG CAATGCAAGGACTTTGACTCCTTCCTGGCTTTGCCTGCTGAACTCAGGGT CTCCAGGATCTTAATGTTTCTGTCAAATGGGCTGGGATTTCTGGGCCTGC TGGTCTCTGGGTTTGGCCTGGACTGTTTGAGAATTGGAGAGAGTCAGAGA GATCTCAAGAGGCGACTGCT	p.Leu others(2221): Show p.Leu119_Ile120insIleLeuGlyGlyIleLeuSerTrpAlaSerGl yIleThrAlaLeuValProValSerTrpValAlaHisLysThrValGlnG luPheTrpAspGluAsnValProAspPheValProArgTrpGluPheGly GluAlaLeuPheLeuGlyTrpPheAlaGlyLeuSerLeuLeuLeuGlyGl yCysLeuLeuAsnCysAlaAlaCysSerSerHisAlaProLeuAlaLeuG lyHisTyrAlaValAlaGlnMetGlnThrGlnCysProTyrLeuGluAsp GlyThrAlaAspProGlnValTerAspSerAspLysAlaArgAspValSe rCysIleAsnCysAspAspLysAspLeuPheValLeuTerLeuAsnLeuT erCysSerArgPheLeuIleHisTyrPheSerThrValGlyArgProThr SerLeuTerAsnLeuAsnAsnGluGlyLysIlePheTyrLeuLysGluAs nAspTyrGlyLysHisTyrThrGlyArgSerGluThrSerPheIleAspL euValIleGluIleAsnValValAlaValGlnTyrSerGlnPheGlnAla LeuMetCysLysPheHisIleArgLysLeuPheSerValPheLeuPhePh eValValAlaValGlySerGlnLysTerSerLeuValSerValSerTerA rgLysLysLeuThrIleTerLysPheTerValPheTyrPheSerLysThr ThrCysTerAlaAsnLeuLysValLeuPheProGlnGlnTerProPheSe rSerLeuAsnArgSerGlyLeuPheLeuGlyTyrTyrGlnAlaLeuSerA laAlaArgPheTyrGluAlaGluGluPheSerValProCysAspProLeu ArgPheLysMetValAlaAsnLeuPheSerHisProPheProGlnAsnLe uArgIleLysLysArgLysThrIleProLysThrPhePheLeuIleSerT erTyrCysGlnValIleTerIleLysProPheLeuCysSerMetLysAsn ArgTerHisGlyAspIleTyrPheSerGlyGluTerThrGluMetLeuTh rProThrCysArgValGlnMetLeuAsnPheProArgHisArgLysHisI leTerGluLysLysValPheMetHisThrSerValAsnLeuThrGluArg HisAlaAspLysTerThrArgSerValValGlnTyrCysPheIleCysHi sValValTyrValAlaTerGlyIleSerGluThrGlnGluTerValLysV alTerArgAspPheTerTerAspTerPheIleTrpLeuArgAsnThrPhe LeuLysProIlePheLysLysTerHisSerValLeuProTerHisAlaHi sLeuLysCysGluAsnTyrLysArgTerLysSerAspArgCysSerTerT erAsnThrLysGlnGluGluLeuAsnGlnAsnHisGlnLeuAsnIleLeu HisLeuAspLeuIleLeuCysTerLysGlyTrpGluTerHisGluSerHi sPheAsnLeuAspAsnGluArgArgLeuSerLeuAsnTyrIleSerValT hrAsnCysPheLeuSerAsnProAlaHisArgThrGlnThrGlnSerTrp ProHisLeuGlyIleThrGlyTrpArgHisTyrPheProIleIleLeuTe rAsnProPheAsnMetGluSerAsnAsnSerAsnSerGlyLysAsnProP roIleTyrThrMetLysLysTyrPheTerValSerTerValIleThrGln ValSerHisPhePheSerGlnGlnProLysGlyArgSerTerPheGlyTe rSerSerGlnAspIleIleMetAlaLeuValPheArgThrValAlaGlnL euAlaGlyValSerLeuSerLeuLeuGlyTrpValLeuSerCysLeuThr AsnTyrLeuProHisTrpLysAsnLeuAsnLeuAspLeuAsnGluMetGl uAsnTrpThrMetGlyLeuTrpGlnThrCysValIleGlnGluGluValG lyMetGlnCysLysAspPheAspSerPheLeuAlaLeuProAlaGluLeu ArgValSerArgIleLeuMetPheLeuSerAsnGlyLeuGlyPheLeuGl yLeuLeuValSerGlyPheGlyLeuAspCysLeuArgIleGlyGluSerG lnArgAspLeuLysArgArgLeuLeu	CLDN22	ENSG00000177300.7	transcript	ENST00000323319.7	protein_coding	1/1	414/2177	356/663	119/220		chr4	TogoVar
CLDN5_chr22_19518027_19529410	19523812	G G	C C	stop_gained stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0000 a0002c0004t0002g0000	1	442	0.0023	0	c.444 others(3): Show c.444C>G	p.Tyr others(4): Show p.Tyr148*	CLDN5	ENSG00000184113.10	transcript	ENST00000618236.2	protein_coding	1/1	599/1384	444/657	148/218		chr22	TogoVar

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