Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
CAVIN3_chr11_6313946_6325501	6320449	GCCCCCGC others(3): Show GCCCCCGCTCC	G G	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	424	0.0024	-10	c.18_ others(15): Show c.18_27delGGAGCGGGGG	p.Leu others(3): Show p.Leu6fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	52/1028	18/786	6/261		chr11	TogoVar
CBARP_chr19_1223287_1243005	1229582	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02055.hp1 HG03669.hp1 HG03831.hp1 others(11): Show HG02055.hp1 HG03669.hp1 HG03831.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18964.hp1 NA18974.hp2 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA19057.hp2	a0004 a0015 a0016 others(1): Show a0004 a0015 a0016 a0017	a0004c0006 a0004c0015 a0004c0026 others(3): Show a0004c0006 a0004c0015 a0004c0026 a0015c0021 a0016c0024 a0017c0025	a0004c0006t0001 a0004c0006t0004 a0004c0006t0010 others(7): Show a0004c0006t0001 a0004c0006t0004 a0004c0006t0010 a0004c0006t0011 a0004c0006t0017 a0004c0015t0001 a0004c0026t0001 a0015c0021t0001 a0016c0024t0001 a0017c0025t0001	a0004c0006t0001g0067 a0004c0006t0001g0084 a0004c0006t0001g0120 others(11): Show a0004c0006t0001g0067 a0004c0006t0001g0084 a0004c0006t0001g0120 a0004c0006t0001g0132 a0004c0006t0004g0069 a0004c0006t0010g0108 a0004c0006t0011g0127 a0004c0006t0017g0068 a0004c0015t0001g0114 a0004c0015t0001g0119 a0004c0026t0001g0101 a0015c0021t0001g0096 a0016c0024t0001g0065 a0017c0025t0001g0066	14	406	0.0345	1	c.171 others(5): Show c.1714dupC	p.Arg others(5): Show p.Arg572fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	10/10	1985/3281	1714/2118	572/705		chr19	TogoVar
CBARP_chr19_1223287_1243005	1229727	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG02056.hp1 HG02602.hp2 others(8): Show HG01496.hp1 HG02056.hp1 HG02602.hp2 HG04184.hp1 NA18956.hp1 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA19030.hp2 NA19068.hp2 NA19086.hp1	a0005 a0007 a0009 a0005 a0007 a0009	a0005c0008 a0005c0014 a0007c0009 others(1): Show a0005c0008 a0005c0014 a0007c0009 a0009c0012	a0005c0008t0001 a0005c0008t0003 a0005c0014t0001 others(4): Show a0005c0008t0001 a0005c0008t0003 a0005c0014t0001 a0005c0014t0003 a0007c0009t0002 a0007c0009t0009 a0009c0012t0001	a0005c0008t0001g0076 a0005c0008t0001g0107 a0005c0008t0003g0109 others(6): Show a0005c0008t0001g0076 a0005c0008t0001g0107 a0005c0008t0003g0109 a0005c0008t0003g0121 a0005c0014t0001g0113 a0005c0014t0003g0111 a0007c0009t0002g0026 a0007c0009t0009g0041 a0009c0012t0001g0035	11	405	0.0272	1	c.156 others(5): Show c.1569dupC	p.Ala others(5): Show p.Ala524fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	10/10	1840/3281	1569/2118	523/705		chr19	TogoVar
CBARP_chr19_1223287_1243005	1233478	G G	GACCTTGA others(13): Show GACCTTGAAATAGGGGCTGGC	frameshift_variant frameshift_variant	HIGH	HG01433.hp2 HG01433.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0122 a0011c0027t0001g0122	1	406	0.0025	20	c.907 others(27): Show c.907_926dupGCCAGCCCCTATTTCAAGGT	p.Lys others(5): Show p.Lys310fs	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	8/10	1197/3281	926/2118	309/705		chr19	TogoVar
CBLC_chr19_44772890_44805652	44793589	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show HG00738.hp2 HG01123.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18963.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19012.hp1 NA19080.hp2 NA19086.hp2 NA19088.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0002c0007 a0004c0004 others(1): Show a0002c0002 a0002c0007 a0004c0004 a0009c0017	a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0007t0001 a0004c0004t0001 a0009c0017t0001	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 others(41): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0129 a0002c0002t0001g0169 a0002c0002t0001g0183 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0272 a0002c0007t0001g0014 a0002c0007t0001g0044 a0002c0007t0001g0047 a0002c0007t0001g0052 a0002c0007t0001g0058 a0004c0004t0001g0059 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0001g0115 a0009c0017t0001g0116	47	342	0.1374	1	c.125 others(5): Show c.1255dupC	p.Gln others(5): Show p.Gln419fs	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	8/11	1298/1576	1256/1425	419/474	INFO_REALIGN_3_PRIME	chr19	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(26): Show a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 a0002c0003t0004g0032 a0002c0003t0004g0033 a0002c0003t0004g0037 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0110 a0002c0003t0004g0112 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0119 a0002c0003t0004g0162 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0177 a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 a0002c0003t0006g0159 a0008c0015t0012g0156	40	297	0.1347	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551		chr21	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGGTGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0042 a0002c0010t0001g0042	1	258	0.0039	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551		chr21	TogoVar
CBX4_chr17_79828156_79844440	79834128	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp1 HG01099.hp2 others(31): Show HG00438.hp1 HG00558.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp2 HG01928.hp1 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02572.hp2 HG03098.hp2 HG03516.hp2 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18949.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18985.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19054.hp1 NA19075.hp1 NA19081.hp1 NA19087.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0009 a0008c0013 a0002c0002 a0002c0009 a0008c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0009t0001 a0008c0013t0001	a0002c0002t0001g0023 a0002c0002t0001g0035 a0002c0002t0001g0042 others(21): Show a0002c0002t0001g0023 a0002c0002t0001g0035 a0002c0002t0001g0042 a0002c0002t0001g0051 a0002c0002t0001g0079 a0002c0002t0001g0090 a0002c0002t0001g0128 a0002c0002t0001g0133 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0039 a0002c0002t0002g0073 a0002c0002t0002g0080 a0002c0002t0002g0108 a0002c0002t0003g0074 a0002c0002t0003g0093 a0002c0002t0003g0103 a0002c0002t0003g0121 a0002c0002t0005g0094 a0002c0002t0006g0083 a0002c0002t0012g0078 a0002c0009t0001g0076 a0002c0009t0001g0101 a0008c0013t0001g0127	34	416	0.0817	1	c.151 others(5): Show c.1513dupG	p.Val others(5): Show p.Val505fs	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding	5/5	1702/2675	1513/1683	505/560		chr17	TogoVar
CBX6_chr22_38856422_38877216	38866233	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02523.hp1 others(6): Show HG01891.hp2 HG02055.hp1 HG02523.hp1 NA18955.hp2 NA18965.hp1 NA18967.hp1 NA18981.hp2 NA18985.hp2 NA19068.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0007 a0003c0006 a0004c0005 a0002c0007 a0003c0006 a0004c0005	a0002c0007t0022 a0003c0006t0012 a0003c0006t0019 others(5): Show a0002c0007t0022 a0003c0006t0012 a0003c0006t0019 a0004c0005t0001 a0004c0005t0003 a0004c0005t0004 a0004c0005t0019 a0004c0005t0090	a0002c0007t0022g0071 a0003c0006t0012g0127 a0003c0006t0019g0128 others(6): Show a0002c0007t0022g0071 a0003c0006t0012g0127 a0003c0006t0019g0128 a0004c0005t0001g0079 a0004c0005t0003g0069 a0004c0005t0003g0078 a0004c0005t0004g0143 a0004c0005t0019g0105 a0004c0005t0090g0142	9	404	0.0223	1	c.121 others(5): Show c.1214dupG	p.Gly others(5): Show p.Gly406fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	1240/6052	1214/1239	405/412		chr22	TogoVar
CBX6_chr22_38856422_38877216	38866655	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp2 HG01358.hp1 HG02055.hp1 others(9): Show HG00673.hp2 HG01358.hp1 HG02055.hp1 HG02055.hp2 HG03098.hp1 HG03139.hp2 HG04204.hp2 NA18974.hp2 NA18987.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0002c0002t0016 a0002c0002t0032 a0002c0002t0043 a0002c0002t0047 a0002c0002t0054 a0002c0007t0022	a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 others(8): Show a0002c0002t0001g0076 a0002c0002t0002g0130 a0002c0002t0003g0068 a0002c0002t0004g0041 a0002c0002t0013g0059 a0002c0002t0016g0060 a0002c0002t0032g0075 a0002c0002t0043g0077 a0002c0002t0047g0156 a0002c0002t0054g0061 a0002c0007t0022g0071	12	404	0.0297	1	c.792 others(4): Show c.792dupC	p.Ala others(5): Show p.Ala265fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	818/6052	792/1239	264/412		chr22	TogoVar
CBX6_chr22_38856422_38877216	38866881	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01109.hp1 HG02895.hp1 HG03831.hp1 others(6): Show HG01109.hp1 HG02895.hp1 HG03831.hp1 NA18966.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA19011.hp2 NA19062.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 others(4): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0008 a0003c0004t0042 a0003c0006t0012 a0003c0006t0019	a0003c0004t0001g0032 a0003c0004t0002g0129 a0003c0004t0004g0043 others(4): Show a0003c0004t0001g0032 a0003c0004t0002g0129 a0003c0004t0004g0043 a0003c0004t0008g0067 a0003c0004t0042g0133 a0003c0006t0012g0127 a0003c0006t0019g0128	9	404	0.0223	1	c.566 others(4): Show c.566dupG	p.Ala others(5): Show p.Ala190fs	CBX6	ENSG00000183741.12	transcript	ENST00000407418.8	protein_coding	5/5	592/6052	566/1239	189/412		chr22	TogoVar
CBX8_chr17_79787132_79802077	79795262	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01261.hp2 HG02055.hp2 others(7): Show HG00738.hp2 HG01261.hp2 HG02055.hp2 HG02071.hp1 HG02148.hp2 HG02818.hp1 NA18963.hp2 NA18990.hp2 NA18994.hp2 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0003 a0003c0004	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0010 a0003c0004t0001 a0003c0004t0025	a0003c0003t0001g0044 a0003c0003t0002g0045 a0003c0003t0003g0047 others(6): Show a0003c0003t0001g0044 a0003c0003t0002g0045 a0003c0003t0003g0047 a0003c0003t0004g0039 a0003c0003t0007g0036 a0003c0003t0008g0046 a0003c0003t0010g0043 a0003c0004t0001g0024 a0003c0004t0025g0042	10	410	0.0244	1	c.542 others(4): Show c.542dupG	p.Thr others(5): Show p.Thr182fs	CBX8	ENSG00000141570.11	transcript	ENST00000269385.9	protein_coding	5/5	621/3752	542/1170	181/389		chr17	TogoVar
CBY2_chr13_45697320_45719559	45713927	GCTCCGGC others(7): Show GCTCCGGCCTCTCCT	G G	frameshift_variant frameshift_variant	HIGH	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0003 a0003c0015t0001g0003	1	438	0.0023	-14	c.904 others(21): Show c.904_917delTCCGGCCTCTCCTC	p.Ser others(5): Show p.Ser302fs	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	975/1605	904/1347	302/448	INFO_REALIGN_3_PRIME	chr13	TogoVar
CCDC102A_chr16_57507181_57541571	57515374	TTCTCGCT others(52): Show TTCTCGCTCTGCTCCGTCTGCTCGTCCAGCGACCGCTGCAGCTTACGTGC CTGGTTGTGG	T T	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0084 a0007c0016t0001g0084	1	414	0.0024	-59	c.143 others(68): Show c.1431_1489delCCACAACCAGGCACGTAAGCTGCAGCGGTCGCTGGA CGAGCAGACGGAGCAGAGCGAGA	p.His others(5): Show p.His478fs	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	8/9	1708/2432	1431/1653	477/550		chr16	TogoVar
CCDC102A_chr16_57507181_57541571	57518224	C C	CAGCCGCT others(66): Show CAGCCGCTCCCGGCGGCCCCACTCCGCAGCGTTTTTCGGCCCTGCAGCCG CTCCATCTGCAGCAGGGCAGGGCA	frameshift_variant frameshift_variant	HIGH	HG02155.hp1 HG02155.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0105 a0004c0017t0001g0105	1	414	0.0024	73	c.109 others(82): Show c.1091_1092insTGCCCTGCCCTGCTGCAGATGGAGCGGCTGCAGGGC CGAAAAACGCTGCGGAGTGGGGCCGCCGGGAGCGGCT	p.Glu others(5): Show p.Glu365fs	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	6/9	1310/2432	1091/1653	364/550		chr16	TogoVar
CCDC144A_chr17_16685241_16782881	16733958	CGAAACCC others(1665): Show CGAAACCCCATCTCTACAAAAAGTACAAATACATTTAGCTGCGTGTGGGG GTGTGTGCCTCTAGTTCAGCTACCCAGGAGGCTGAAGTGGGAGGATCACC TGAGCCCGGGAGGCCAAGGCTACAGTGAGTCTTGATTGCGTCACTGCCCT CTAACCTGAGTGATGGAGTGGAGACCCTATCTCGAAAAAAAAAAAAAAAA AGCCTAATATAATGCTTAGATTTAGCATTTATGAATAAATGTAATTCTTA TATAACTGATGAGAAAAATGTTAGAAAAATAAATAGCTATAGAATATTCT CAGGAAAAAAAGAACTTAAAGAACGTTGGAACATTTCCTCTGTCCAGATA TATGCAAAGCTACAGCTTTTACTATAGGGTGGTGTATAGGTTAGATGTCA GAGTGTAAAGCCAATTTTTTAATGTAGTCAAATTTATTAATCTTTAATGC CTTTGAGTTTGTTGTAATTTGGAGACCGTCTTTTCCAATTCTGAGATGCT TAAAAATTCTCTAGTTATTTATGTTCTACATTCATGGATTCATTGTCTTC AAATAAACTTATGAAGTTTTGGGAATTTATGCTCTATGAGGTTTGAAGTT TCGATAGAATATTTTTTTCCAGTTGGATATCCACTTATGGCAATCTTTTC ATTGTATACATTATTTAATTTCAGAGAAAATCATAATCTGTCATTTTATT GAGTGCTACTGAATGTTTCCTTTCTTACTTAGATTTCTCATAGGCATCAG AAAGAAAAGGATCTCTTTCATGAAGATTGCATGTTGCAGGAAGAAATTGC CTTGCTGAGACTGGAAATAGATACAATAAAAAATCAGAACAAGCAAAAGG AAAAGAAATATTTTGAGGACATTGAGGCTGTGAAAGAAAAGAATGATAAC CTTCAAAAAATTATAAAACTAAATGAGGAAACATTAACAGAAACAATACT CCAGTACAGTGGACAGCTGAACAATCTGACAGCTGAGAACAAAATACTCA ATTCTGAACTGGAGAATGGGAAACAGAACCAAGAAAGACTAGAAATAGAA ATGGAATCATACCGTTGTAGACTAGCTGCTGCTGTACGTGACTGTGATCA AAGTCAGACAGCAAGAGACCTAAAACTTGATTTCCAGAGAACAAGACAAG AGTGGGTTCGTTTACATGACAAAATGAAGGTTGATATGTCTGGCCTACAA GCTAAGAATGAGATTCTTTCTGAAAAACTTTCTAATGCTGAAAGTAAAAT TAACAGCCTACAAATTCAGCTCCATAACACAAGAGATGCTCTTGGAAGAG AGAGTTTGATTTTGGAACGTGTGCAAAGAGACCTCAGCCAAACACAGTGT CAGAAGAAAGAAACTGAACAAATGTACCAAATTGAACAAAGCAAACTGAA GAAATACATTGCCAAGCAGGAATCTGTAGAGGAGAGATTATCTCAACTAC AAAGTGAAAATATGTTGCTTCGACAGCAACTGGATGATGCTCACAAGAAA GCTAACAGTCAAGAAAAGACAAGCAGTACTATCCAAGACCAGTTTCATTC TGCTGCCAAAAATCTTCAAGCTGAGAGTGAAAAGCAGATTCTTTCACTAC AAGAGAAGAACAAGGAGCTGATGGATGAATATAATCATTTAAAAGAAAGA ATGGATCAATGTGAGAAAGAGAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20805.hp2 NA20805.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0026 a0016c0018t0001g0026	1	316	0.0032	-1672	c.241 others(13): Show c.2419-731_3359del	p.Ile others(5): Show p.Ile807fs	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/17		2419/4278	807/1425		chr17	TogoVar
CCDC159_chr19_11341519_11359944	11353528	T T	TGGTGCTG others(3): Show TGGTGCTGGGA	frameshift_variant frameshift_variant	HIGH	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0010 a0006c0008t0001g0010	1	356	0.0028	10	c.647 others(17): Show c.647_648insTGCTGGGAGG	p.Cys others(5): Show p.Cys217fs	CCDC159	ENSG00000183401.12	transcript	ENST00000458408.6	protein_coding	8/11	736/1049	648/894	216/297	INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC163_chr1_45488866_45505073	45499365	AGATACAG others(58): Show AGATACAGCCACTGCTACAGAAGAAACAGATGCACAGGCCAATGAGCTCT GTGGAGACCCCAAGAG	A A	frameshift_variant frameshift_variant	HIGH	NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show NA18944.hp1 NA18969.hp1 NA18971.hp2 NA18984.hp2 NA18986.hp2 NA19000.hp2 NA19007.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0013 a0003c0003t0006g0061 a0003c0003t0006g0062 others(1): Show a0003c0003t0006g0013 a0003c0003t0006g0061 a0003c0003t0006g0062 a0003c0003t0006g0063	10	406	0.0246	-65	c.92_ others(71): Show c.92_156delCTCTTGGGGTCTCCACAGAGCTCATTGGCCTGTGCATCT GTTTCTTCTGTAGCAGTGGCTGTATC	p.Pro others(4): Show p.Pro31fs	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/5	620/2095	92/438	31/145		chr1	TogoVar
CCDC187_chr9_136244973_136309094	136253933	C C	CCCACCAG others(21): Show CCCACCAGGCCCAGGCGCCCGGCTCTCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03239.hp1 HG03927.hp2 HG03239.hp1 HG03927.hp2	a0058 a0058	a0058c0038 a0058c0038	a0058c0038t0002 a0058c0038t0002	a0058c0038t0002g0069 a0058c0038t0002g0200 a0058c0038t0002g0069 a0058c0038t0002g0200	2	398	0.0050	28	c.586 others(37): Show c.5867_5894dupCTGAGAGCCGGGCGCCTGGGCCTGGTGG	p.Asn others(6): Show p.Asn1966fs	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	6158/10119	5894/6234	1965/2077		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136254850	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG02451.hp1 HG02559.hp1 others(2): Show HG00741.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG03139.hp1	a0077 a0097 a0101 others(2): Show a0077 a0097 a0101 a0103 a0122	a0077c0190 a0097c0138 a0101c0228 others(2): Show a0077c0190 a0097c0138 a0101c0228 a0103c0150 a0122c0106	a0077c0190t0018 a0097c0138t0030 a0101c0228t0041 others(2): Show a0077c0190t0018 a0097c0138t0030 a0101c0228t0041 a0103c0150t0018 a0122c0106t0018	a0077c0190t0018g0314 a0097c0138t0030g0297 a0101c0228t0041g0013 others(2): Show a0077c0190t0018g0314 a0097c0138t0030g0297 a0101c0228t0041g0013 a0103c0150t0018g0203 a0122c0106t0018g0155	5	398	0.0126	1	c.497 others(10): Show c.4977_4978insT	p.Glu others(6): Show p.Glu1660fs	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	5241/10119	4977/6234	1659/2077		chr9	TogoVar
CCDC28B_chr1_32195595_32210387	32205217	A A	AGAGGGTC others(4): Show AGAGGGTCTGGG	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0028 a0005c0005t0001g0028	1	414	0.0024	11	c.572 others(18): Show c.572_573insGAGGGTCTGGG	p.Asn others(5): Show p.Asn191fs	CCDC28B	ENSG00000160050.16	transcript	ENST00000373602.10	protein_coding	6/6	711/880	573/603	191/200		chr1	TogoVar
CCDC40_chr17_80031642_80105613	80099735	A A	AGATGATC others(12): Show AGATGATCGCCAACAAGCTC	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0022 a0022	a0022c0072 a0022c0072	a0022c0072t0002 a0022c0072t0002	a0022c0072t0002g0317 a0022c0072t0002g0317	1	376	0.0027	19	c.339 others(28): Show c.3392_3410dupTGATCGCCAACAAGCTCGA	p.Glu others(6): Show p.Glu1137fs	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	20/20	3432/4288	3411/3429	1137/1142	INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC54_chr3_107372439_107383635	107378233	CAAATG CAAATG	C C	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00558.hp1 HG02129.hp1 others(5): Show HG00438.hp1 HG00558.hp1 HG02129.hp1 NA18960.hp1 NA18964.hp2 NA18985.hp2 NA19064.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	8	398	0.0201	-5	c.650 others(12): Show c.650_654delTGAAA	p.Met others(5): Show p.Met217fs	CCDC54	ENSG00000138483.3	transcript	ENST00000261058.3	protein_coding	1/1	799/1197	650/987	217/328	INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC62_chr12_122769572_122832528	122798066	TTGTCAAT others(16): Show TTGTCAATATCTATGACAGATTTA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp1 NA18972.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0004 a0010c0012t0004	a0010c0012t0004g0021 a0010c0012t0004g0021	1	296	0.0034	-23	c.862 others(33): Show c.862-15_869delCAATATCTATGACAGATTTATGT	p.Ile others(5): Show p.Ile288fs	CCDC62	ENSG00000130783.14	transcript	ENST00000253079.11	protein_coding	8/13		862/2055	288/684	INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC74B_chr2_130134287_130150112	130139689	GGCTGGGG others(25): Show GGCTGGGGGCGGGTAGAGGGACTGTCACCGTGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18990.hp2 NA18990.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0075 a0018c0021t0001g0075	1	448	0.0022	-32	c.810 others(42): Show c.810-31_810delTCACGGTGACAGTCCCTCTACCCGCCCCCAGC	p.Leu others(5): Show p.Leu271fs	CCDC74B	ENSG00000152076.19	transcript	ENST00000409943.8	protein_coding	8/8	926/1329	810/945	270/314		chr2	TogoVar
CCDC78_chr16_717582_731443	722979	GTGGCCCG others(10): Show GTGGCCCGGACCAGCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA19089.hp2 NA19089.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0034 a0015c0021t0001g0034	1	388	0.0026	-17	c.122 others(26): Show c.1227_1243delGCTGCTGGTCCGGGCCA	p.Gln others(5): Show p.Gln409fs	CCDC78	ENSG00000162004.19	transcript	ENST00000345165.10	protein_coding	13/14	1319/1585	1227/1413	409/470		chr16	TogoVar
CCDC88A_chr2_55282842_55424856	55295815	T T	TGAGTGCC others(7): Show TGAGTGCCTGGTGTA	frameshift_variant frameshift_variant	HIGH	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0038 a0005c0013t0038	a0005c0013t0038g0089 a0005c0013t0038g0089	1	314	0.0032	14	c.531 others(23): Show c.5319_5332dupTACACCAGGCACTC	p.Gln others(6): Show p.Gln1778fs	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	31/33	6109/9751	5332/5616	1778/1871		chr2	TogoVar
CCR5_chr3_46365946_46381206	46373452	TACAGTCA others(25): Show TACAGTCAGTATCAATTCTGGAAGAATTTCCAG	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG01123.hp1 others(1): Show HG00140.hp1 HG00280.hp1 HG01123.hp1 HG01175.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	4	420	0.0095	-32	c.554 others(39): Show c.554_585delGTCAGTATCAATTCTGGAAGAATTTCCAGACA	p.Ser others(5): Show p.Ser185fs	CCR5	ENSG00000160791.14	transcript	ENST00000292303.5	protein_coding	2/2	608/3358	554/1059	185/352	INFO_REALIGN_3_PRIME	chr3	TogoVar
CCT6A_chr7_56046765_56068989	56061810	TCAGAATC others(25): Show TCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	T T	frameshift_variant frameshift_variant	HIGH	NA18972.hp1 NA18972.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0120 a0006c0010t0001g0120	1	426	0.0023	-32	c.141 others(41): Show c.1412_1443delCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	p.Ser others(5): Show p.Ser471fs	CCT6A	ENSG00000146731.11	transcript	ENST00000275603.9	protein_coding	12/14	1496/2584	1412/1596	471/531		chr7	TogoVar
CD1D_chr1_158175895_158191427	158182157	ACCCAAGA others(3): Show ACCCAAGAGGC	A A	frameshift_variant frameshift_variant	HIGH	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0001 a0008c0006t0001g0001	1	432	0.0023	-10	c.459 others(17): Show c.459_468delAGAGGCCCCA	p.Gln others(5): Show p.Gln153fs	CD1D	ENSG00000158473.8	transcript	ENST00000674085.2	protein_coding	3/6	666/3492	459/1008	153/335	INFO_REALIGN_3_PRIME	chr1	TogoVar
CD200R1L_chr3_112810711_112851864	112827063	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(45): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18967.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19055.hp2 NA19060.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0001 a0003c0006t0001 a0003c0004t0001 a0003c0006t0001	a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0020 others(25): Show a0003c0004t0001g0004 a0003c0004t0001g0005 a0003c0004t0001g0020 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0064 a0003c0004t0001g0067 a0003c0004t0001g0068 a0003c0004t0001g0069 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0091 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0179 a0003c0006t0001g0075	48	406	0.1182	-1	c.545 others(4): Show c.545delA	p.His others(5): Show p.His182fs	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	6/8	1143/1603	545/753	182/250		chr3	TogoVar
CD207_chr2_70825211_70840816	70833690	AGT AGT	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00673.hp1 HG02015.hp2 others(4): Show HG00609.hp2 HG00673.hp1 HG02015.hp2 HG02165.hp2 NA18747.hp1 NA18961.hp2 NA18992.hp2	a0009 a0012 a0014 a0009 a0012 a0014	a0009c0036 a0012c0016 a0014c0021 a0009c0036 a0012c0016 a0014c0021	a0009c0036t0001 a0012c0016t0001 a0014c0021t0001 a0009c0036t0001 a0012c0016t0001 a0014c0021t0001	a0009c0036t0001g0126 a0012c0016t0001g0031 a0012c0016t0001g0125 others(1): Show a0009c0036t0001g0126 a0012c0016t0001g0031 a0012c0016t0001g0125 a0014c0021t0001g0039	7	442	0.0158	-2	c.519 others(9): Show c.519_520delAC	p.Leu others(5): Show p.Leu174fs	CD207	ENSG00000116031.9	transcript	ENST00000410009.5	protein_coding	3/6	560/1866	519/987	173/328		chr2	TogoVar
CD33_chr19_51220080_51245016	51226321	ACCCAACA others(12): Show ACCCAACAACTGGTATCTTT	A A	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG02132.hp2 NA18946.hp1 others(3): Show HG00609.hp2 HG02132.hp2 NA18946.hp1 NA18970.hp1 NA18990.hp1 NA18991.hp2	a0009 a0013 a0009 a0013	a0009c0008 a0013c0016 a0009c0008 a0013c0016	a0009c0008t0002 a0013c0016t0001 a0013c0016t0002 a0009c0008t0002 a0013c0016t0001 a0013c0016t0002	a0009c0008t0002g0015 a0009c0008t0002g0054 a0013c0016t0001g0057 others(1): Show a0009c0008t0002g0015 a0009c0008t0002g0054 a0013c0016t0001g0057 a0013c0016t0002g0015	6	364	0.0165	-19	c.713 others(26): Show c.713_731delCAACAACTGGTATCTTTCC	p.Pro others(5): Show p.Pro238fs	CD33	ENSG00000105383.15	transcript	ENST00000262262.5	protein_coding	4/7	752/1462	713/1095	238/364	INFO_REALIGN_3_PRIME	chr19	TogoVar
CD36_chr7_80633642_80684274	80673379	CTATATTG others(7): Show CTATATTGTGCCTAT	C C	frameshift_variant frameshift_variant	HIGH	NA18956.hp1 NA18978.hp1 NA18956.hp1 NA18978.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0077 a0004c0005t0004g0080 a0004c0005t0004g0077 a0004c0005t0004g0080	2	390	0.0051	-14	c.122 others(23): Show c.1226_1239delATATTGTGCCTATT	p.Tyr others(5): Show p.Tyr409fs	CD36	ENSG00000135218.19	transcript	ENST00000447544.7	protein_coding	13/15	1514/4598	1226/1419	409/472	INFO_REALIGN_3_PRIME	chr7	TogoVar
CD44_chr11_35134171_35237402	35176590	G G	GCCGCTTT others(12): Show GCCGCTTTGCAGGTGTATTC	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0241 a0008c0020t0001g0241	1	376	0.0027	19	c.85_ others(25): Show c.85_103dupCGCTTTGCAGGTGTATTCC	p.His others(4): Show p.His35fs	CD44	ENSG00000026508.21	transcript	ENST00000428726.8	protein_coding	2/18	237/5431	104/2229	35/742	INFO_REALIGN_3_PRIME	chr11	TogoVar
CD8B_chr2_86833167_86866886	86858232	TGCGGAAT others(181): Show TGCGGAATCCCAGAGGGCCAGGAACTCGTGGTGACTGTCACTGCTCGGTG CCTGGCGCTGTCTCAGCCAGTAGATGCGCATGTTACTGAGGGAGATTTTA GCCTCGCAGGACAGCATCACCATCTTGTTGGTTTGCACCTTTATGTATGC AGGGGTCTGCTGGAGGACTGAGTTGCCATGGAGAACTAG	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0163 a0005c0008t0002g0163	1	390	0.0026	-188	c.44- others(8): Show c.44-4_227del	p.Val others(4): Show p.Val15fs	CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding	2/6	248/4794	44/633	15/210		chr2	TogoVar
CD9_chr12_6195400_6243266	6233438	C C	CGCCATTG others(18): Show CGCCATTGAAATAGCTGCGGCCATCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp2 NA19075.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0146 a0003c0004t0001g0146	1	376	0.0027	25	c.302 others(32): Show c.302_326dupCCATTGAAATAGCTGCGGCCATCTG	p.Trp others(5): Show p.Trp109fs	CD9	ENSG00000010278.15	transcript	ENST00000009180.10	protein_coding	4/8	427/1225	327/687	109/228	INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC14C_chr7_48919547_48932454	48924866	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG01993.hp1 NA18966.hp2 NA18969.hp2 others(4): Show HG01993.hp1 NA18966.hp2 NA18969.hp2 NA19000.hp2 NA19074.hp2 NA19085.hp1 NA19088.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0000 a0004c0006t0004g0000	7	460	0.0152	1	c.196 others(4): Show c.196dupA	p.Met others(4): Show p.Met66fs	CDC14C	ENSG00000218305.5	transcript	ENST00000650262.2	protein_coding	1/1	323/2908	197/1344	66/447	INFO_REALIGN_3_PRIME	chr7	TogoVar
CDC40_chr6_110175427_110237232	110217724	TATCTGCT others(48): Show TATCTGCTTCAATACTGCAGGAACACAGTTCCTCAGTGCAGCCTATGACA GGTATC	T T	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0031 a0006c0005t0002g0031	1	328	0.0030	-55	c.101 others(64): Show c.1012_1066delATCTGCTTCAATACTGCAGGAACACAGTTCCTCAGT GCAGCCTATGACAGGTATC	p.Ile others(5): Show p.Ile338fs	CDC40	ENSG00000168438.15	transcript	ENST00000307731.2	protein_coding	10/15	1030/3859	1012/1740	338/579		chr6	TogoVar
CDC42BPG_chr11_64818052_64849653	64839217	GCCACTGA others(26): Show GCCACTGATGAATCCACCTGTGGGTGGTGGTGGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18968.hp1 NA18968.hp1	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0001 a0029c0028t0001	a0029c0028t0001g0053 a0029c0028t0001g0053	1	402	0.0025	-33	c.676 others(43): Show c.676-17_691delACCACCACCACCCACAGGTGGATTCATCAGTGG	p.Val others(5): Show p.Val226fs	CDC42BPG	ENSG00000171219.9	transcript	ENST00000342711.6	protein_coding	7/37	775/6161	676/4656	226/1551		chr11	TogoVar
CDCP1_chr3_45077277_45151378	45118458	GCAGCTAA others(34): Show GCAGCTAAAGGTAAAGACTATTCTTTCTCCAGACTTGATGGA	G G	frameshift_variant frameshift_variant	HIGH	NA19043.hp2 NA19043.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0018 a0012c0018t0018	a0012c0018t0018g0154 a0012c0018t0018g0154	1	382	0.0026	-41	c.205 others(48): Show c.205_245delTCCATCAAGTCTGGAGAAAGAATAGTCTTTACCTTTAG CTG	p.Ser others(4): Show p.Ser69fs	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	2/9	336/5963	205/2511	69/836		chr3	TogoVar
CDH15_chr16_89166748_89200492	89187454	TGCAGGTG others(3): Show TGCAGGTGGCG	T T	frameshift_variant frameshift_variant	HIGH	NA18967.hp2 NA18967.hp2	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0001 a0020c0036t0001	a0020c0036t0001g0168 a0020c0036t0001g0168	1	404	0.0025	-10	c.691 others(17): Show c.691_700delCAGGTGGCGG	p.Gln others(5): Show p.Gln231fs	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	6/14	775/2866	691/2445	231/814	INFO_REALIGN_3_PRIME	chr16	TogoVar
CDHR4_chr3_49785732_49804873	49799014	G G	GGTGCAGA others(6): Show GGTGCAGAGACAGT	frameshift_variant frameshift_variant	HIGH	NA19010.hp1 NA19010.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0080 a0007c0014t0001g0080	1	352	0.0028	13	c.382 others(20): Show c.382_383insACTGTCTCTGCAC	p.Ala others(5): Show p.Ala128fs	CDHR4	ENSG00000187492.9	transcript	ENST00000412678.7	protein_coding	3/19	443/2528	382/2367	128/788		chr3	TogoVar
CDKL1_chr14_50321265_50401881	50341200	CCACGTAG others(13): Show CCACGTAGTCTGTATAGTAGT	C C	frameshift_variant frameshift_variant	HIGH	HG03688.hp1 HG03688.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0141 a0007c0007t0141	a0007c0007t0141g0303 a0007c0007t0141g0303	1	304	0.0033	-20	c.467 others(27): Show c.467_486delACTACTATACAGACTACGTG	p.Asp others(5): Show p.Asp156fs	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	6/10	1005/5402	467/1074	156/357		chr14	TogoVar
CDO1_chr5_115799733_115821659	115816292	T T	TGGCCTGC others(25): Show TGGCCTGCACCTCCTCTACATTGACCTCATCGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	370	0.0027	32	c.74_ others(38): Show c.74_105dupGCGATGAGGTCAATGTAGAGGAGGTGCAGGCC	p.Ile others(4): Show p.Ile36fs	CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding	1/5	367/1565	105/603	35/200		chr5	TogoVar
CDY1_chrY_25617117_25629902	25622628	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.192 others(4): Show c.192delA	p.Lys others(4): Show p.Lys64fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	518/2366	192/1665	64/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25622917	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.477 others(4): Show c.477delT	p.Glu others(5): Show p.Glu160fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	803/2366	477/1665	159/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623461	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	1	c.102 others(5): Show c.1020dupC	p.Phe others(5): Show p.Phe341fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1347/2366	1021/1665	341/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623510	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0001 a0004c0005t0008g0001	1	92	0.0109	-1	c.107 others(5): Show c.1070delA	p.Asn others(5): Show p.Asn357fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1396/2366	1070/1665	357/554	INFO_REALIGN_3_PRIME	chrY	TogoVar
CDY1_chrY_25617117_25629902	25623626	GTGCATCC others(10): Show GTGCATCCATCCTGCCTC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0002 a0003c0004t0006g0002	1	92	0.0109	-17	c.118 others(26): Show c.1186_1202delGCATCCATCCTGCCTCT	p.Ala others(5): Show p.Ala396fs	CDY1	ENSG00000172288.8	transcript	ENST00000306609.5	protein_coding	1/2	1512/2366	1186/1665	396/554	INFO_REALIGN_3_PRIME	chrY	TogoVar

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