Joint Open Genome and Omics Platform (JoGo)

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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
CNOT1_chr16_58514951_58634826	58586548	T T	A A	stop_gained stop_gained	HIGH	NA18995.hp1 NA18995.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0173 a0010c0022t0001g0173	1	306	0.0033	0	c.634 others(3): Show c.634A>T	p.Arg others(4): Show p.Arg212*	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/49	907/8411	634/7131	212/2376		chr16	TogoVar
CNPPD1_chr2_219166897_219181925	219176324	G G	GGGGAACA others(20): Show GGGGAACATCAGCTGGTCCAGGGAGGAA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA19086.hp1 NA19086.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0033 a0012c0017t0007g0033	1	430	0.0023	27	c.76_ others(32): Show c.76_77insTTCCTCCCTGGACCAGCTGATGTTCCC	p.Leu others(38): Show p.Leu25_Pro26insLeuProProTrpThrSerTerCysSer	CNPPD1	ENSG00000115649.16	transcript	ENST00000360507.10	protein_coding	2/8	173/2019	76/1233	26/410		chr2	TogoVar
CNTD1_chr17_42793861_42816587	42805830	C C	T T	stop_gained stop_gained	HIGH	HG00408.hp1 HG00408.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0007 a0004c0008t0001g0007	1	304	0.0033	0	c.526 others(3): Show c.526C>T	p.Arg others(4): Show p.Arg176*	CNTD1	ENSG00000176563.10	transcript	ENST00000588408.6	protein_coding	4/7	733/3252	526/993	176/330		chr17	TogoVar
CNTLN_chr9_17130040_17508923	17484355	A A	T T	stop_gained stop_gained	HIGH	HG03579.hp1 HG03579.hp1	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0003 a0026c0024t0003	a0026c0024t0003g0024 a0026c0024t0003g0024	1	216	0.0046	0	c.391 others(4): Show c.3916A>T	p.Lys others(5): Show p.Lys1306*	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	24/26	3942/5518	3916/4221	1306/1406		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41894045	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0020 a0020c0026t0020	a0020c0026t0020g0027 a0020c0026t0020g0027	1	106	0.0094	0	c.381 others(4): Show c.3811C>T	p.Gln others(5): Show p.Gln1271*	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	24/24	4143/7652	3811/3867	1271/1288		chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41953235	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00558.hp1 others(31): Show HG00099.hp2 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18968.hp1 NA18970.hp2 NA19090.hp1 NA20905.hp2	a0001 a0006 a0010 others(3): Show a0001 a0006 a0010 a0017 a0028 a0030	a0001c0001 a0001c0012 a0001c0042 others(8): Show a0001c0001 a0001c0012 a0001c0042 a0001c0043 a0001c0046 a0006c0007 a0006c0041 a0010c0013 a0017c0045 a0028c0038 a0030c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0012t0002 a0001c0042t0013 a0001c0043t0015 a0001c0046t0016 a0006c0007t0002 a0006c0007t0011 a0006c0041t0002 a0010c0013t0003 a0017c0045t0002 a0028c0038t0002 a0030c0021t0027	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(31): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0017g0012 a0001c0001t0018g0026 a0001c0001t0031g0098 a0001c0012t0002g0007 a0001c0012t0002g0009 a0001c0042t0013g0001 a0001c0043t0015g0013 a0001c0046t0016g0015 a0006c0007t0002g0014 a0006c0007t0011g0017 a0006c0007t0011g0021 a0006c0041t0002g0020 a0010c0013t0003g0103 a0010c0013t0003g0108 a0017c0045t0002g0019 a0028c0038t0002g0016 a0030c0021t0027g0064	34	106	0.3208	0	c.202 others(4): Show c.2028C>A	p.Cys others(4): Show p.Cys676*	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	13/24	2360/7652	2028/3867	676/1288		chr9	TogoVar
COL15A1_chr9_98938907_99075787	99003558	A A	ACGGAGAA others(46): Show ACGGAGAAACCCAGAGGAAGGGGTCACTCCAGTAAGTAGCTCAGAGCGCA AGCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18985.hp2 NA18985.hp2	a0054 a0054	a0054c0058 a0054c0058	a0054c0058t0002 a0054c0058t0002	a0054c0058t0002g0144 a0054c0058t0002g0144	1	308	0.0032	53	c.117 others(62): Show c.1178_1179insACCCAGAGGAAGGGGTCACTCCAGTAAGTAGCTCAG AGCGCAAGCTCGGAGAA	p.Asn others(5): Show p.Asn393fs	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	8/42	1334/5223	1179/4167	393/1388	INFO_REALIGN_3_PRIME	chr9	TogoVar
COL1A2_chr7_94389895_94436227	94423041	C C	T T	stop_gained stop_gained	HIGH	HG03017.hp1 HG03017.hp1	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0039 a0009c0034t0001g0039	1	436	0.0023	0	c.248 others(4): Show c.2488C>T	p.Arg others(4): Show p.Arg830*	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	40/52	2625/5072	2488/4101	830/1366		chr7	TogoVar
COL28A1_chr7_7352875_7540873	7380805	C C	A A	stop_gained stop_gained	HIGH	HG01070.hp1 HG02004.hp2 HG03017.hp2 HG01070.hp1 HG02004.hp2 HG03017.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0035 a0010c0011t0001g0036 a0010c0011t0001g0064 a0010c0011t0001g0035 a0010c0011t0001g0036 a0010c0011t0001g0064	3	194	0.0155	0	c.226 others(4): Show c.2263G>T	p.Glu others(4): Show p.Glu755*	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	29/35	2424/4297	2263/3378	755/1125		chr7	TogoVar
COL3A1_chr2_188969373_189017746	188996449	C C	T T	stop_gained stop_gained	HIGH	HG01928.hp2 HG01928.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0003 a0008c0016t0001g0003	1	374	0.0027	0	c.171 others(4): Show c.1714C>T	p.Arg others(4): Show p.Arg572*	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/51	1831/5490	1714/4401	572/1466		chr2	TogoVar
COL6A3_chr2_237319018_237419164	237394924	G G	T T	stop_gained stop_gained	HIGH	NA19079.hp2 NA19079.hp2	a0067 a0067	a0067c0046 a0067c0046	a0067c0046t0001 a0067c0046t0001	a0067c0046t0001g0248 a0067c0046t0001g0248	1	320	0.0031	0	c.372 others(3): Show c.372C>A	p.Tyr others(4): Show p.Tyr124*	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	3/44	614/10532	372/9534	124/3177		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130395447	C C	T T	stop_gained stop_gained	HIGH	HG02258.hp2 HG02615.hp2 HG02258.hp2 HG02615.hp2	a0032 a0032	a0032c0030 a0032c0030	a0032c0030t0001 a0032c0030t0001	a0032c0030t0001g0117 a0032c0030t0001g0120 a0032c0030t0001g0117 a0032c0030t0001g0120	2	290	0.0069	0	c.355 others(4): Show c.3550C>T	p.Gln others(5): Show p.Gln1184*	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	8/41	3888/8969	3550/7845	1184/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130413557	C C	T T	stop_gained stop_gained	HIGH	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0227 a0001c0025t0002g0227	1	290	0.0034	0	c.467 others(4): Show c.4675C>T	p.Gln others(5): Show p.Gln1559*	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41	5013/8969	4675/7845	1559/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130413569	C C	T T	stop_gained stop_gained	HIGH	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0036 a0036	a0036c0041 a0036c0041	a0036c0041t0001 a0036c0041t0001	a0036c0041t0001g0175 a0036c0041t0001g0176 a0036c0041t0001g0175 a0036c0041t0001g0176	2	290	0.0069	0	c.468 others(4): Show c.4687C>T	p.Arg others(5): Show p.Arg1563*	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41	5025/8969	4687/7845	1563/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130440486	C C	T T	stop_gained stop_gained	HIGH	HG01070.hp2 HG01074.hp1 HG01192.hp1 others(2): Show HG01070.hp2 HG01074.hp1 HG01192.hp1 HG01978.hp1 HG03942.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0002 a0015c0015t0009 a0015c0015t0001 a0015c0015t0002 a0015c0015t0009	a0015c0015t0001g0007 a0015c0015t0001g0125 a0015c0015t0002g0222 others(1): Show a0015c0015t0001g0007 a0015c0015t0001g0125 a0015c0015t0002g0222 a0015c0015t0009g0166	5	290	0.0172	0	c.614 others(4): Show c.6148C>T	p.Gln others(5): Show p.Gln2050*	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	35/41	6486/8969	6148/7845	2050/2614		chr3	TogoVar
COL6A5_chr3_130340672_130489846	130468818	G G	T T	stop_gained stop_gained	HIGH	HG03239.hp1 HG03239.hp1	a0071 a0071	a0071c0093 a0071c0093	a0071c0093t0007 a0071c0093t0007	a0071c0093t0007g0182 a0071c0093t0007g0182	1	290	0.0034	0	c.681 others(4): Show c.6814G>T	p.Glu others(5): Show p.Glu2272*	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	38/41	7152/8969	6814/7845	2272/2614		chr3	TogoVar
COL6A6_chr3_130512177_130682042	130565398	C C	T T	stop_gained stop_gained	HIGH	HG03491.hp2 HG03491.hp2	a0016 a0016	a0016c0079 a0016c0079	a0016c0079t0003 a0016c0079t0003	a0016c0079t0003g0160 a0016c0079t0003g0160	1	262	0.0038	0	c.106 others(4): Show c.1066C>T	p.Arg others(4): Show p.Arg356*	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	4/37	1318/8689	1066/6792	356/2263		chr3	TogoVar
COL6A6_chr3_130512177_130682042	130592568	G G	T T	stop_gained stop_gained	HIGH	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0002 a0016c0025t0002	a0016c0025t0002g0027 a0016c0025t0002g0028 a0016c0025t0002g0027 a0016c0025t0002g0028	2	262	0.0076	0	c.430 others(4): Show c.4300G>T	p.Gly others(5): Show p.Gly1434*	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	14/37	4552/8689	4300/6792	1434/2263		chr3	TogoVar
COL6A6_chr3_130512177_130682042	130593088	G G	T T	stop_gained stop_gained	HIGH	NA20905.hp1 NA20905.hp1	a0016 a0016	a0016c0065 a0016c0065	a0016c0065t0002 a0016c0065t0002	a0016c0065t0002g0203 a0016c0065t0002g0203	1	262	0.0038	0	c.439 others(4): Show c.4399G>T	p.Gly others(5): Show p.Gly1467*	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	16/37	4651/8689	4399/6792	1467/2263		chr3	TogoVar
COL6A6_chr3_130512177_130682042	130593220	A A	T T	stop_gained stop_gained	HIGH	NA19087.hp1 NA19087.hp1	a0047 a0047	a0047c0052 a0047c0052	a0047c0052t0005 a0047c0052t0005	a0047c0052t0005g0060 a0047c0052t0005g0060	1	262	0.0038	0	c.443 others(4): Show c.4438A>T	p.Arg others(5): Show p.Arg1480*	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	17/37	4690/8689	4438/6792	1480/2263		chr3	TogoVar
COL6A6_chr3_130512177_130682042	130635724	C C	CAGGAGAG others(10): Show CAGGAGAGACTGGGCTGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19086.hp1 NA19086.hp1	a0046 a0046	a0046c0068 a0046c0068	a0046c0068t0002 a0046c0068t0002	a0046c0068t0002g0077 a0046c0068t0002g0077	1	262	0.0038	17	c.505 others(26): Show c.5058_5074dupAGAGACTGGGCTGAAGG	p.Gly others(6): Show p.Gly1692fs	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/37	5327/8689	5075/6792	1692/2263	INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40307478	G G	A A	stop_gained stop_gained	HIGH	HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show HG00423.hp2 HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01346.hp2 HG01928.hp2 HG01943.hp2 HG02027.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03669.hp1 HG04228.hp1 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19043.hp1 NA19065.hp1 NA19086.hp1 NA19089.hp1 NA20300.hp1	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0013	a0001c0005 a0001c0008 a0001c0028 others(3): Show a0001c0005 a0001c0008 a0001c0028 a0007c0007 a0008c0012 a0013c0029	a0001c0005t0001 a0001c0008t0001 a0001c0028t0001 others(3): Show a0001c0005t0001 a0001c0008t0001 a0001c0028t0001 a0007c0007t0001 a0008c0012t0001 a0013c0029t0001	a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0073 a0001c0005t0001g0074 a0001c0005t0001g0093 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0101 a0001c0005t0001g0103 a0001c0005t0001g0106 a0001c0005t0001g0107 a0001c0005t0001g0108 a0001c0005t0001g0111 a0001c0005t0001g0114 a0001c0005t0001g0145 a0001c0008t0001g0050 a0001c0008t0001g0126 a0001c0028t0001g0102 a0007c0007t0001g0025 a0008c0012t0001g0063 a0013c0029t0001g0139	41	436	0.0940	0	c.976 others(3): Show c.976C>T	p.Gln others(4): Show p.Gln326*	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	19/32	1065/2852	976/2070	326/689		chr1	TogoVar
COMMD2_chr3_149733472_149757489	149750796	A A	T T	stop_gained stop_gained	HIGH	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0095 a0004c0005t0001g0095	1	422	0.0024	0	c.284 others(3): Show c.284T>A	p.Leu others(3): Show p.Leu95*	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	4/5	329/3694	284/600	95/199		chr3	TogoVar
COMMD7_chr20_32697699_32748467	32703414	G G	A A	stop_gained stop_gained	HIGH	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	398	0.0025	0	c.571 others(3): Show c.571C>T	p.Arg others(4): Show p.Arg191*	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	9/9	647/1362	571/603	191/200		chr20	TogoVar
COPS6_chr7_100083969_100097187	100090902	C C	CTTCCTGT others(9): Show CTTCCTGTCAGCGTTTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0003 a0002c0007t0002g0003	1	420	0.0024	16	c.489 others(23): Show c.489_504dupTCCTGTCAGCGTTTTT	p.Glu others(5): Show p.Glu169fs	COPS6	ENSG00000168090.10	transcript	ENST00000303904.8	protein_coding	6/10	527/1404	505/984	169/327	INFO_REALIGN_3_PRIME	chr7	TogoVar
COQ8B_chr19_40686530_40721886	40714118	G G	A A	stop_gained stop_gained	HIGH	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0162 a0009c0026t0001g0162	1	408	0.0025	0	c.238 others(3): Show c.238C>T	p.Arg others(3): Show p.Arg80*	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	4/15	541/2443	238/1635	80/544		chr19	TogoVar
COX6B2_chr19_55344704_55359719	55353911	G G	T T	stop_gained stop_gained	HIGH	HG02258.hp1 HG02970.hp1 NA21309.hp2 HG02258.hp1 HG02970.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	3	388	0.0077	0	c.168 others(3): Show c.168C>A	p.Cys others(3): Show p.Cys56*	COX6B2	ENSG00000160471.13	transcript	ENST00000326529.9	protein_coding	3/5	256/1566	168/267	56/88		chr19	TogoVar
COX8C_chr14_93342182_93353356	93347360	C C	A A	stop_gained stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0013 a0004c0003t0001g0013	1	425	0.0024	0	c.92C others(2): Show c.92C>A	p.Ser others(3): Show p.Ser31*	COX8C	ENSG00000187581.3	transcript	ENST00000342144.3	protein_coding	1/2	179/542	92/219	31/72		chr14	TogoVar
CPB2_chr13_46048186_46110033	46058208	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG01934.hp2 HG01978.hp2 HG00642.hp1 HG01934.hp2 HG01978.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0212 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0212	3	328	0.0091	0	c.970 others(3): Show c.970C>T	p.Arg others(4): Show p.Arg324*	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	9/11	994/1724	970/1272	324/423		chr13	TogoVar
CPHXL2_chr16_75655227_75682009	75660577	G G	A A	stop_gained stop_gained	HIGH	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0085 a0007c0010t0001g0085	1	390	0.0026	0	c.880 others(3): Show c.880C>T	p.Gln others(4): Show p.Gln294*	CPHXL2	ENSG00000284484.1	transcript	ENST00000640173.1	protein_coding	3/3	890/1240	880/1203	294/400		chr16	TogoVar
CPN2_chr3_194334768_194356328	194341178	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0010 others(4): Show a0001 a0004 a0010 a0012 a0013 a0014 a0017	a0001c0002 a0001c0011 a0001c0014 others(7): Show a0001c0002 a0001c0011 a0001c0014 a0001c0016 a0004c0006 a0010c0024 a0012c0029 a0013c0030 a0014c0028 a0017c0027	a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 others(17): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0002t0017 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0011t0003 a0001c0014t0002 a0001c0016t0005 a0004c0006t0001 a0004c0006t0003 a0010c0024t0001 a0012c0029t0001 a0013c0030t0003 a0014c0028t0003 a0017c0027t0003	a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 a0001c0002t0003g0026 a0001c0002t0003g0034 a0001c0002t0003g0048 a0001c0002t0003g0059 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0089 a0001c0002t0003g0103 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0116 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0139 a0001c0002t0003g0144 a0001c0002t0003g0148 a0001c0002t0003g0155 a0001c0002t0003g0162 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0175 a0001c0002t0005g0010 a0001c0002t0005g0129 a0001c0002t0005g0131 a0001c0002t0007g0011 a0001c0002t0009g0020 a0001c0002t0009g0136 a0001c0002t0013g0142 a0001c0002t0017g0055 a0001c0002t0021g0137 a0001c0002t0022g0177 a0001c0002t0023g0078 a0001c0002t0024g0140 a0001c0011t0003g0035 a0001c0014t0002g0160 a0001c0016t0005g0125 a0004c0006t0001g0023 a0004c0006t0001g0042 a0004c0006t0001g0044 a0004c0006t0001g0061 a0004c0006t0001g0065 a0004c0006t0001g0092 a0004c0006t0001g0100 a0004c0006t0001g0106 a0004c0006t0001g0114 a0004c0006t0001g0124 a0004c0006t0001g0138 a0004c0006t0003g0105 a0004c0006t0003g0120 a0010c0024t0001g0093 a0012c0029t0001g0107 a0013c0030t0003g0101 a0014c0028t0003g0077 a0017c0027t0003g0176	135	438	0.3082	0	c.152 others(4): Show c.1525C>T	p.Gln others(4): Show p.Gln509*	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	2/2	1615/3025	1525/1638	509/545		chr3	TogoVar
CPNE3_chr8_86509435_86566498	86537625	G G	A A	stop_gained stop_gained	HIGH	HG01255.hp2 HG01255.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0005 a0010c0011t0005	a0010c0011t0005g0312 a0010c0011t0005g0312	1	338	0.0030	0	c.522 others(3): Show c.522G>A	p.Trp others(4): Show p.Trp174*	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	7/17	677/4857	522/1614	174/537		chr8	TogoVar
CPO_chr2_206934518_206974474	206955474	G G	A A	stop_gained stop_gained	HIGH	HG02976.hp1 HG02976.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0127 a0009c0011t0001g0127	1	420	0.0024	0	c.177 others(3): Show c.177G>A	p.Trp others(3): Show p.Trp59*	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	3/9	259/1245	177/1125	59/374		chr2	TogoVar
CPO_chr2_206934518_206974474	206969206	C C	T T	stop_gained stop_gained	HIGH	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0220 a0012c0013t0001g0220	1	420	0.0024	0	c.895 others(3): Show c.895C>T	p.Arg others(4): Show p.Arg299*	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	9/9	977/1245	895/1125	299/374		chr2	TogoVar
CRELD2_chr22_49913634_49932537	49925557	G G	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19084.hp1 NA19084.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0044 a0012c0022t0001g0044	1	322	0.0031	0	c.100 others(4): Show c.1009G>T	p.Glu others(4): Show p.Glu337*	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/10	1145/1428	1009/1062	337/353		chr22	TogoVar
CRISP3_chr6_49722376_49749388	49733705	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00673.hp1 HG00673.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0059 a0006c0012t0001g0059	1	398	0.0025	0	c.460 others(3): Show c.460C>T	p.Gln others(4): Show p.Gln154*	CRISP3	ENSG00000096006.12	transcript	ENST00000263045.9	protein_coding	5/8	481/2152	460/777	154/258		chr6	TogoVar
CRYBB1_chr22_26594278_26623027	26599538	C C	T T	stop_gained stop_gained	HIGH	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	424	0.0024	0	c.711 others(3): Show c.711G>A	p.Trp others(4): Show p.Trp237*	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	6/6	781/1041	711/759	237/252		chr22	TogoVar
CRYBB1_chr22_26594278_26623027	26616256	T T	A A	stop_gained stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0164 a0003c0002t0003g0164	1	424	0.0024	0	c.64A others(2): Show c.64A>T	p.Lys others(3): Show p.Lys22*	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	2/6	134/1041	64/759	22/252		chr22	TogoVar
CRYGA_chr2_208155740_208168589	208161034	G G	A A	stop_gained stop_gained	HIGH	HG01192.hp1 HG01981.hp2 HG02300.hp2 HG01192.hp1 HG01981.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	3	392	0.0077	0	c.295 others(3): Show c.295C>T	p.Arg others(3): Show p.Arg99*	CRYGA	ENSG00000168582.5	transcript	ENST00000304502.5	protein_coding	3/3	328/622	295/525	99/174		chr2	TogoVar
CRYGD_chr2_208116607_208129524	208124196	G G	C C	stop_gained stop_gained	HIGH	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0047 a0003c0007t0001g0047	1	451	0.0022	0	c.168 others(3): Show c.168C>G	p.Tyr others(3): Show p.Tyr56*	CRYGD	ENSG00000118231.5	transcript	ENST00000264376.5	protein_coding	2/3	219/642	168/525	56/174		chr2	TogoVar
CRYM_chr16_21253521_21283290	21267704	C C	A A	stop_gained stop_gained	HIGH	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0118 a0002c0004t0001g0118	1	392	0.0026	0	c.523 others(3): Show c.523G>T	p.Glu others(4): Show p.Glu175*	CRYM	ENSG00000103316.12	transcript	ENST00000572914.2	protein_coding	5/8	562/1244	523/945	175/314		chr16	TogoVar
CSAG1_chrX_152722484_152738721	152728157	G G	C C	stop_gained stop_gained	HIGH	HG00280.hp1 HG00741.hp1 HG01168.hp1 others(19): Show HG00280.hp1 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG02004.hp1 HG02071.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp1 HG02886.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp2 NA18986.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0004 a0003c0003t0003 a0003c0003t0004	a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 others(6): Show a0003c0003t0003g0009 a0003c0003t0003g0014 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0004g0047	22	316	0.0696	0	c.84C others(2): Show c.84C>G	p.Tyr others(3): Show p.Tyr28*	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	3/4	182/645	84/237	28/78		chrX	TogoVar
CSF2RB_chr22_36908628_36945439	36929776	G G	A A	stop_gained stop_gained	HIGH	NA18990.hp2 NA18990.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0003 a0013c0020t0003	a0013c0020t0003g0008 a0013c0020t0003g0008	1	358	0.0028	0	c.687 others(3): Show c.687G>A	p.Trp others(4): Show p.Trp229*	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding	6/14	909/4853	687/2694	229/897		chr22	TogoVar
CSKMT_chr11_62660312_62673108	62666509	C C	T T	stop_gained stop_gained	HIGH	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0001 a0003c0007t0001g0001	1	360	0.0028	0	c.181 others(3): Show c.181C>T	p.Gln others(3): Show p.Gln61*	CSKMT	ENSG00000214756.8	transcript	ENST00000532971.2	protein_coding	3/3	435/2034	181/723	61/240		chr11	TogoVar
CSNK1G2_chr19_1936172_1986338	1979361	A A	T T	stop_gained stop_gained	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0335 a0005c0010t0001g0335	1	380	0.0026	0	c.811 others(3): Show c.811A>T	p.Lys others(4): Show p.Lys271*	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	8/12	1323/2895	811/1248	271/415		chr19	TogoVar
CSNK2A3_chr11_11346942_11358250	11352282	G G	A A	stop_gained stop_gained	HIGH	NA18952.hp1 NA18952.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0001 a0020c0016t0001	a0020c0016t0001g0000 a0020c0016t0001g0000	1	450	0.0022	0	c.838 others(3): Show c.838C>T	p.Arg others(4): Show p.Arg280*	CSNK2A3	ENSG00000254598.3	transcript	ENST00000528848.3	protein_coding	1/1	969/1309	838/1176	280/391		chr11	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467516	G G	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(239): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0010 a0011 a0012 a0014 a0016 a0017 a0018	a0001c0001 a0001c0004 a0001c0012 others(11): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0005c0007 a0007c0009 a0008c0010 a0010c0013 a0011c0014 a0012c0018 a0014c0020 a0016c0019 a0017c0021 a0018c0022	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0012t0001 a0001c0017t0001 a0005c0007t0002 a0007c0009t0001 a0007c0009t0002 a0008c0010t0002 a0010c0013t0002 a0011c0014t0001 a0012c0018t0002 a0014c0020t0001 a0016c0019t0001 a0017c0021t0002 a0018c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(233): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0367 a0001c0001t0002g0369 a0001c0001t0002g0375 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0200 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0217 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0235 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0004t0002g0261 a0001c0004t0002g0275 a0001c0004t0002g0276 a0001c0004t0002g0309 a0001c0004t0002g0320 a0001c0004t0002g0321 a0001c0004t0002g0323 a0001c0004t0002g0326 a0001c0004t0002g0342 a0001c0004t0002g0344 a0001c0004t0002g0373 a0001c0004t0002g0374 a0001c0012t0001g0043 a0001c0012t0001g0044 a0001c0017t0001g0225 a0005c0007t0002g0283 a0005c0007t0002g0301 a0005c0007t0002g0315 a0005c0007t0002g0316 a0005c0007t0002g0318 a0005c0007t0002g0319 a0005c0007t0002g0329 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0002g0270 a0008c0010t0002g0291 a0008c0010t0002g0292 a0008c0010t0002g0295 a0010c0013t0002g0274 a0010c0013t0002g0328 a0011c0014t0001g0123 a0011c0014t0001g0124 a0012c0018t0002g0339 a0014c0020t0001g0195 a0016c0019t0001g0234 a0017c0021t0002g0287 a0018c0022t0001g0210	242	384	0.6302	0	c.215 others(4): Show c.2159G>A	p.Trp others(4): Show p.Trp720*	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2617/2695	2159/2205	720/734		chr3	TogoVar
CST11_chr20_23445412_23457876	23452607	G G	A A	stop_gained stop_gained	HIGH	NA18952.hp1 NA18978.hp2 NA18980.hp2 others(1): Show NA18952.hp1 NA18978.hp2 NA18980.hp2 NA19011.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0014 a0002c0004t0001g0014	4	444	0.0090	0	c.205 others(3): Show c.205C>T	p.Arg others(3): Show p.Arg69*	CST11	ENSG00000125831.10	transcript	ENST00000377009.8	protein_coding	1/3	270/576	205/417	69/138		chr20	TogoVar
CST2_chr20_23818769_23831729	23825281	G G	A A	stop_gained stop_gained	HIGH	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0005 a0006 a0005 a0006	a0005c0007 a0006c0006 a0005c0007 a0006c0006	a0005c0007t0002 a0006c0006t0001 a0005c0007t0002 a0006c0006t0001	a0005c0007t0002g0056 a0006c0006t0001g0023 a0005c0007t0002g0056 a0006c0006t0001g0023	2	468	0.0043	0	c.271 others(3): Show c.271C>T	p.Arg others(3): Show p.Arg91*	CST2	ENSG00000170369.4	transcript	ENST00000304725.3	protein_coding	2/3	340/746	271/426	91/141		chr20	TogoVar
CST4_chr20_23680640_23694038	23687093	G G	A A	stop_gained stop_gained	HIGH	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0035 a0007c0011t0002g0035	1	450	0.0022	0	c.337 others(3): Show c.337C>T	p.Gln others(4): Show p.Gln113*	CST4	ENSG00000101441.5	transcript	ENST00000217423.4	protein_coding	2/3	406/749	337/426	113/141		chr20	TogoVar

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