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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTLN_chr9_17130040_17508923	17407006	AAAAAAGA others(22): Show AAAAAAGAGGAATAGAACATAAAAAGAGGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG01109.hp2 HG02622.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0105 a0002c0006t0002g0144 a0002c0006t0002g0105 a0002c0006t0002g0144	2	216	0.0093	-29	c.261 others(48): Show c.2616-2283_2616-2255delAAGAGGAATAGAACATAAAAAGAGGT AAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN4_chr3_2093866_3062959	2794559	TGGGTTCT others(22): Show TGGGTTCTAACCCTGGCTGTACCTCAAATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0065 a0004c0011t0003g0065	1	116	0.0086	-29	c.359 others(48): Show c.359-24923_359-24895delTTCTAACCCTGGCTGTACCTCAAATA GGG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2983213	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0025 a0001c0021t0002g0025	1	2	0.5000	-29	c.135 others(48): Show c.1359-5118_1359-5090delAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245266	TATATATA others(22): Show TATATATATACACACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18961.hp1 NA19065.hp2 HG03927.hp1 NA18961.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0116 a0001c0002t0001g0176 a0001c0003t0001g0124 a0001c0001t0001g0116 a0001c0002t0001g0176 a0001c0003t0001g0124	3	207	0.0145	-29	c.358 others(48): Show c.358+17283_358+17311delCACACACATATATATATAACATATAT ATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147083787	ATATATAC others(22): Show ATATATACATATACACATGTATGTACATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02976.hp1 others(2): Show HG02486.hp1 HG02630.hp2 HG02976.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0015	a0001c0001t0007 a0001c0002t0002 a0001c0003t0020 others(2): Show a0001c0001t0007 a0001c0002t0002 a0001c0003t0020 a0001c0013t0003 a0001c0015t0001	a0001c0001t0007g0020 a0001c0002t0002g0013 a0001c0003t0020g0017 others(2): Show a0001c0001t0007g0020 a0001c0002t0002g0013 a0001c0003t0020g0017 a0001c0013t0003g0039 a0001c0015t0001g0011	5	38	0.1316	-29	c.551 others(48): Show c.551-24277_551-24249delCATATTATATACATATACACATGTAT GTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(22): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG02040.hp2 others(14): Show HG00673.hp2 HG00741.hp1 HG02040.hp2 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02615.hp2 HG02965.hp2 HG03209.hp2 HG04184.hp1 NA18968.hp2 NA18991.hp2 NA18999.hp1 NA19003.hp1 NA19085.hp1 NA19091.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0014	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0002c0011 a0003c0003 a0004c0007 a0005c0008 a0007c0013 a0014c0036	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0002c0005t0002 a0002c0005t0004 a0002c0011t0004 a0003c0003t0006 a0004c0007t0026 a0005c0008t0001 a0007c0013t0004 a0014c0036t0004	a0001c0001t0001g0062 a0001c0001t0003g0228 a0002c0002t0002g0115 others(14): Show a0001c0001t0001g0062 a0001c0001t0003g0228 a0002c0002t0002g0115 a0002c0002t0002g0201 a0002c0002t0004g0021 a0002c0002t0004g0129 a0002c0002t0004g0138 a0002c0002t0004g0150 a0002c0002t0004g0226 a0002c0005t0002g0080 a0002c0005t0004g0072 a0002c0011t0004g0078 a0003c0003t0006g0262 a0004c0007t0026g0073 a0005c0008t0001g0108 a0007c0013t0004g0035 a0014c0036t0004g0248	17	157	0.1083	-29	c.275 others(46): Show c.2755+434_2755+462delCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124182414	TACGGATG others(22): Show TACGGATGACAAAACTGAGACTCAGGAAGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03471.hp1 HG01261.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0038 a0001c0002t0002g0030 a0001c0001t0014g0038 a0001c0002t0002g0030	2	62	0.0323	-29	c.83- others(46): Show c.83-39290_83-39262delACGGATGACAAAACTGAGACTCAGGAAG C	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23			chr2	TogoVar
COA1_chr7_43634257_43734523	43644696	TATAGATA others(22): Show TATAGATAGATAGATTAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp1 others(2): Show HG00735.hp1 HG01256.hp2 HG01258.hp1 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0356 a0001c0001t0001g0360 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0356 a0001c0001t0001g0360 a0001c0001t0001g0372	5	381	0.0131	-29	c.264 others(44): Show c.264+526_264+554delCTATCTATCTATCTAATCTATCTATCTAT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164818598	AGCATATG others(22): Show AGCATATGTGTACATATGTACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01496.hp2 others(8): Show HG00735.hp1 HG01261.hp1 HG01496.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0032 a0012c0027	a0001c0001t0018 a0001c0002t0002 a0001c0002t0010 others(6): Show a0001c0001t0018 a0001c0002t0002 a0001c0002t0010 a0001c0002t0046 a0001c0002t0058 a0001c0002t0060 a0002c0003t0054 a0004c0032t0001 a0012c0027t0010	a0001c0001t0018g0022 a0001c0001t0018g0023 a0001c0002t0002g0020 others(8): Show a0001c0001t0018g0022 a0001c0001t0018g0023 a0001c0002t0002g0020 a0001c0002t0010g0015 a0001c0002t0010g0016 a0001c0002t0046g0014 a0001c0002t0058g0019 a0001c0002t0060g0017 a0002c0003t0054g0024 a0004c0032t0001g0018 a0012c0027t0010g0021	11	195	0.0564	-29	c.41+ others(46): Show c.41+22529_41+22557delCATATATGTGTACATATGTACACATATG C	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018906	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01261.hp1 HG02280.hp2 others(4): Show HG01169.hp1 HG01261.hp1 HG02280.hp2 HG02683.hp2 HG04199.hp1 NA18963.hp1 NA19007.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0003 a0001c0006 a0001c0020 others(3): Show a0001c0003 a0001c0006 a0001c0020 a0004c0013 a0004c0058 a0015c0057	a0001c0003t0003 a0001c0006t0003 a0001c0020t0003 others(3): Show a0001c0003t0003 a0001c0006t0003 a0001c0020t0003 a0004c0013t0008 a0004c0058t0003 a0015c0057t0003	a0001c0003t0003g0095 a0001c0006t0003g0039 a0001c0020t0003g0034 others(4): Show a0001c0003t0003g0095 a0001c0006t0003g0039 a0001c0020t0003g0034 a0001c0020t0003g0222 a0004c0013t0008g0109 a0004c0058t0003g0022 a0015c0057t0003g0061	7	194	0.0361	-29	c.376 others(48): Show c.3769-1367_3769-1339delATATATATATATATATATATATATAT ATA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51321207	AAATTGTA others(22): Show AAATTGTAAGGACCTTTTAAATAAATAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0207 a0005c0012t0001g0207	1	228	0.0044	-29	c.-46 others(40): Show c.-4603_-4575delCTTTATTTATTTAAAAGGTCCTTACAATT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding		4399		chr7	TogoVar
COL13A1_chr10_69796906_69964144	69936149	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG02027.hp2 others(14): Show HG00558.hp2 HG01261.hp1 HG02027.hp2 HG03209.hp1 HG03834.hp2 HG06807.hp2 NA18939.hp1 NA18945.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18981.hp1 NA18998.hp2 NA19009.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0073 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0002g0010 a0001c0001t0002g0191 a0001c0002t0003g0313 a0001c0003t0001g0030 a0001c0003t0002g0106 a0001c0003t0002g0117 a0001c0003t0002g0130 a0001c0003t0002g0135 a0001c0003t0002g0145 a0001c0003t0002g0147 a0001c0003t0002g0185 a0001c0004t0002g0155 a0001c0007t0001g0180	17	322	0.0528	-29	c.177 others(46): Show c.1771-600_1771-572delGGAAGGAAGGAAGGAAGGAAGGAAAGGA A	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45484087	ACACACAC others(22): Show ACACACACCTCTCCAGCATATGTGCACACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(53): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01081.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18977.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0013 a0017 a0033	a0001c0003 a0001c0005 a0001c0034 others(12): Show a0001c0003 a0001c0005 a0001c0034 a0001c0039 a0001c0084 a0001c0087 a0001c0090 a0002c0020 a0002c0021 a0003c0023 a0003c0088 a0009c0014 a0013c0085 a0017c0089 a0033c0094	a0001c0003t0001 a0001c0003t0016 a0001c0005t0002 others(17): Show a0001c0003t0001 a0001c0003t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0034t0001 a0001c0039t0001 a0001c0084t0001 a0001c0087t0002 a0001c0090t0001 a0002c0020t0001 a0002c0020t0003 a0002c0021t0002 a0003c0023t0002 a0003c0088t0001 a0009c0014t0001 a0013c0085t0002 a0017c0089t0011 a0033c0094t0001	a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0049 others(53): Show a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0049 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0092 a0001c0003t0001g0156 a0001c0003t0001g0167 a0001c0003t0001g0179 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0225 a0001c0003t0001g0228 a0001c0003t0001g0249 a0001c0003t0001g0252 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0261 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0016g0185 a0001c0005t0002g0048 a0001c0005t0002g0146 a0001c0005t0002g0221 a0001c0005t0002g0227 a0001c0005t0002g0235 a0001c0005t0002g0242 a0001c0005t0002g0272 a0001c0005t0003g0213 a0001c0005t0006g0157 a0001c0005t0006g0222 a0001c0005t0007g0254 a0001c0005t0007g0255 a0001c0034t0001g0050 a0001c0034t0001g0051 a0001c0039t0001g0143 a0001c0084t0001g0023 a0001c0087t0002g0068 a0001c0090t0001g0251 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0020t0003g0144 a0002c0021t0002g0001 a0002c0021t0002g0135 a0002c0021t0002g0166 a0003c0023t0002g0118 a0003c0023t0002g0131 a0003c0088t0001g0024 a0009c0014t0001g0258 a0009c0014t0001g0266 a0009c0014t0001g0271 a0013c0085t0002g0005 a0017c0089t0011g0193 a0033c0094t0001g0034	56	290	0.1931	-29	c.170 others(48): Show c.1701+1274_1701+1302delCTCTCCAGCATATGTGCACACGCACA CAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489857	CACTTGCC others(22): Show CACTTGCCCCTCCCCCACACCTCCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(50): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp2 NA18954.hp1 NA18969.hp2 NA18977.hp2 NA18990.hp2 NA19010.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2	a0001 a0005 a0011 others(4): Show a0001 a0005 a0011 a0012 a0016 a0022 a0023	a0001c0004 a0001c0007 a0001c0011 others(16): Show a0001c0004 a0001c0007 a0001c0011 a0001c0022 a0001c0025 a0001c0031 a0001c0032 a0001c0035 a0001c0036 a0001c0051 a0001c0052 a0001c0079 a0005c0053 a0011c0049 a0011c0099 a0012c0037 a0016c0040 a0022c0046 a0023c0047	a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 others(18): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0007t0002 a0001c0011t0001 a0001c0022t0001 a0001c0025t0002 a0001c0031t0001 a0001c0032t0002 a0001c0035t0001 a0001c0036t0004 a0001c0051t0001 a0001c0052t0002 a0001c0079t0008 a0005c0053t0001 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0016c0040t0001 a0022c0046t0004 a0023c0047t0004	a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 others(50): Show a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0089 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0278 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0011t0001g0009 a0001c0011t0001g0177 a0001c0011t0001g0178 a0001c0011t0001g0187 a0001c0022t0001g0007 a0001c0022t0001g0111 a0001c0022t0001g0184 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0031t0001g0130 a0001c0031t0001g0134 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0035t0001g0033 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0079t0008g0189 a0005c0053t0001g0061 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0016c0040t0001g0095 a0022c0046t0004g0164 a0023c0047t0004g0163	53	290	0.1828	-29	c.195 others(46): Show c.1959+341_1959+369delGCCCCTCCCCCACACCTCCTCCCCGACT T	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178232822	CGGGCCTC others(22): Show CGGGCCTCGCCCCGCAGGCCCCGCCCCGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 NA18950.hp2 NA18973.hp2 HG02523.hp2 NA18950.hp2 NA18973.hp2	a0005 a0009 a0005 a0009	a0005c0008 a0005c0014 a0009c0012 a0005c0008 a0005c0014 a0009c0012	a0005c0008t0002 a0005c0014t0002 a0009c0012t0002 a0005c0008t0002 a0005c0014t0002 a0009c0012t0002	a0005c0008t0002g0187 a0005c0014t0002g0017 a0009c0012t0002g0162 a0005c0008t0002g0187 a0005c0014t0002g0017 a0009c0012t0002g0162	3	236	0.0127	-29	c.58 others(40): Show c.5847_*5875delTGCGGGGCGGGGCCTGCGGGGCGAGGCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		4795		chr5	TogoVar
COL24A1_chr1_85724233_86161772	86097486	CCTCCCTC others(22): Show CCTCCCTCCTCCTCCCTTCTCCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0221 a0007c0014t0001g0221	1	191	0.0052	-29	c.160 others(48): Show c.1600-5195_1600-5167delAGGGAGGAGGAGAAGGGAGGAGGAGG GAG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL2A1_chr12_47967967_48009476	47971809	TATATGTA others(22): Show TATATGTATATATTATTATATTGTATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02055.hp1 others(4): Show HG01346.hp2 HG01891.hp1 HG02055.hp1 HG02717.hp2 HG03098.hp1 NA18522.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0002 a0001c0002t0001 a0003c0009t0002	a0001c0002t0001g0149 a0003c0009t0002g0028 a0003c0009t0002g0032 others(2): Show a0001c0002t0001g0149 a0003c0009t0002g0028 a0003c0009t0002g0032 a0003c0009t0002g0072 a0003c0009t0002g0100	7	412	0.0170	-29	c.15 others(40): Show c.1569_*1597delTATTATACAATATAATAATATATACATAT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1157		chr12	TogoVar
COL4A4_chr2_226997714_227169205	227009717	AAGAGAAG others(22): Show AAGAGAAGAGAAGAGAAAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0251	1	282	0.0035	-29	c.452 others(46): Show c.4522+567_4522+595delCTTCTCTTCTCTTTTCTCTTCTCTTCTC T	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	46/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134760672	GCACACCC others(22): Show GCACACCCCCCACACTCATACATGCACACA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0004 a0001c0050t0004	a0001c0050t0004g0034 a0001c0050t0004g0034	1	270	0.0037	-29	c.193 others(48): Show c.1936-1245_1936-1217delCCCACACTCATACATGCACACACACA CCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134391	GATTTAGG others(22): Show GATTTAGGGTCAGGTTTAGGGTCAGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0081 a0002c0003t0003g0081	1	365	0.0027	-29	c.49 others(40): Show c.4901_*4929delATTTAGGGTCAGGTTTAGGGTCAGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4591		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134391	GATTTAGG others(22): Show GATTTAGGGTCAGGTTTAGGGTCAGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	357	0.0028	-29	c.18 others(40): Show c.1840_*1868delATTTAGGGTCAGGTTTAGGGTCAGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1544		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03579.hp2 HG03669.hp2 others(1): Show HG02886.hp2 HG03579.hp2 HG03669.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0014 a0004c0006 a0004c0016 a0001c0014 a0004c0006 a0004c0016	a0001c0014t0001 a0004c0006t0001 a0004c0016t0002 a0001c0014t0001 a0004c0006t0001 a0004c0016t0002	a0001c0014t0001g0112 a0001c0014t0001g0198 a0004c0006t0001g0095 others(1): Show a0001c0014t0001g0112 a0001c0014t0001g0198 a0004c0006t0001g0095 a0004c0016t0002g0132	4	44	0.0909	-29	c.766 others(46): Show c.7668+807_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130590279	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 HG02970.hp2 HG06807.hp1	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0001 a0026c0035t0001	a0026c0035t0001g0002 a0026c0035t0001g0002	2	255	0.0078	-29	c.421 others(46): Show c.4219-760_4219-732delATATATATATATATATATATTTTTTTTT T	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590283	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0042 a0042	a0042c0082 a0042c0082	a0042c0082t0006 a0042c0082t0006	a0042c0082t0006g0089 a0042c0082t0006g0089	1	253	0.0040	-29	c.421 others(46): Show c.4219-756_4219-728delATATATATATATATATTTTTTTTTTTTT T	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COLEC11_chr2_3590112_3649644	3605397	GGGGGAGG others(22): Show GGGGGAGGGGAGTCACGTGGGTGCCGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01099.hp2 others(36): Show HG00140.hp1 HG01070.hp1 HG01099.hp2 HG01123.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001	a0001c0001t0001g0059 a0001c0001t0001g0134 a0001c0001t0001g0193 others(36): Show a0001c0001t0001g0059 a0001c0001t0001g0134 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0211 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0192 a0002c0002t0001g0204 a0002c0002t0001g0212 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0310 a0002c0002t0001g0314 a0002c0002t0001g0337 a0002c0002t0001g0343 a0002c0003t0001g0184 a0002c0003t0001g0195 a0002c0004t0001g0213 a0002c0004t0001g0229 a0002c0004t0001g0261 a0002c0004t0001g0313 a0002c0004t0001g0318 a0002c0005t0002g0179 a0002c0005t0002g0180 a0002c0005t0002g0181 a0002c0005t0002g0209 a0002c0005t0002g0210 a0002c0006t0001g0030 a0002c0006t0001g0197 a0002c0006t0001g0198 a0002c0006t0001g0324 a0002c0006t0001g0329	39	376	0.1037	-29	c.130 others(45): Show c.130+980_130+1008delCGAGGAGGGGAGGGGAGTCACGTGGGTGC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640601	TGGACACC others(22): Show TGGACACCCACCCCCGTCGCATCCCACAGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0169 a0002c0003t0001g0169	1	376	0.0027	-29	c.328 others(44): Show c.328+288_328+316delGCATCCCACAGCGGACACCCACCCCCGTC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COPA_chr1_160283594_160348250	160318468	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0186 a0001c0001t0013g0186	1	268	0.0037	-29	c.707 others(46): Show c.707-4372_707-4344delTTTTTGTTTTTTTTTTTTTTTTTTTTTT T	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	8/32			chr1	TogoVar
COPS9_chr2_240125828_240141305	240137662	GCTAAGTT others(22): Show GCTAAGTTGGTTTAGCCAGAGCCCCCCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	440	0.0023	-29	c.-14 others(40): Show c.-1407_-1379delGGTGGGGGGCTCTGGCTAAACCAACTTAG	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding		1358		chr2	TogoVar
COQ2_chr4_83258824_83289798	83276041	AAAATATA others(22): Show AAAATATATATTATATATAATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(219): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19082.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0003c0005 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0017t0001 a0003c0005t0001 a0006c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0002g0137 a0001c0001t0003g0119 a0001c0001t0003g0158 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0006g0142 a0001c0001t0007g0118 a0001c0006t0001g0021 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0159 a0001c0007t0001g0113 a0001c0007t0001g0128 a0001c0007t0001g0143 a0001c0007t0001g0144 a0001c0008t0001g0036 a0001c0008t0001g0132 a0001c0009t0001g0149 a0001c0010t0001g0042 a0001c0017t0001g0172 a0003c0005t0001g0016 a0003c0005t0001g0024 a0003c0005t0001g0155 a0006c0016t0001g0131	222	342	0.6491	-29	c.421 others(46): Show c.421-2453_421-2425delAAAATATATATTATATATAATATATATT T	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
COQ9_chr16_57442479_57466270	57446874	TTACAATC others(22): Show TTACAATCGTGAGCTCAGGTACCCCCCGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0090 a0002c0003t0001g0090	1	402	0.0025	-29	c.-63 others(38): Show c.-631_-603delTACAATCGTGAGCTCAGGTACCCCCCGAC	COQ9	ENSG00000088682.14	transcript	ENST00000262507.11	protein_coding		604		chr16	TogoVar
CORIN_chr4_47589001_47843067	47617956	CAACTGAT others(22): Show CAACTGATGTTGAAAGTCAGGCATGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(58): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03834.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp1 NA18969.hp1 NA18982.hp2 NA19000.hp1 NA19001.hp1 NA19010.hp1 NA19062.hp1 NA19063.hp2 NA19079.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0015	a0001c0001 a0001c0002 a0001c0021 others(5): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0004 a0002c0008 a0009c0016 a0015c0015	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0002c0003t0001 a0002c0004t0001 a0002c0008t0001 a0009c0016t0001 a0015c0015t0001	a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0062 others(58): Show a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0112 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0021t0001g0046 a0002c0003t0001g0258 a0002c0004t0001g0185 a0002c0004t0001g0197 a0002c0004t0001g0207 a0002c0004t0001g0235 a0002c0004t0001g0249 a0002c0008t0001g0181 a0002c0008t0001g0221 a0002c0008t0001g0222 a0002c0008t0001g0241 a0009c0016t0001g0069 a0015c0015t0001g0085	61	262	0.2328	-29	c.254 others(48): Show c.2540+5586_2540+5614delACTGCCATGCCTGACTTTCAACATCA GTT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02717.hp2 others(2): Show HG02572.hp2 HG02647.hp2 HG02717.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0005 a0001c0002t0006 a0001c0003t0006 others(2): Show a0001c0002t0005 a0001c0002t0006 a0001c0003t0006 a0001c0003t0012 a0001c0004t0005	a0001c0002t0005g0016 a0001c0002t0006g0223 a0001c0003t0006g0051 others(2): Show a0001c0002t0005g0016 a0001c0002t0006g0223 a0001c0003t0006g0051 a0001c0003t0012g0047 a0001c0004t0005g0233	5	93	0.0538	-29	c.216 others(46): Show c.216+5018_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
COX10_chr17_14064504_14213677	14210395	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG01192.hp2 others(53): Show HG00544.hp2 HG00735.hp1 HG01192.hp2 HG01243.hp1 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 NA18939.hp1 NA18950.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18977.hp1 NA18985.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19080.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0015 a0002c0020 a0003c0009 a0003c0011 a0003c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0002 a0001c0007t0001 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0022 a0002c0005t0001 a0002c0005t0003 a0002c0005t0005 a0002c0006t0008 a0002c0008t0001 a0002c0008t0023 a0002c0015t0001 a0002c0015t0021 a0002c0020t0001 a0003c0009t0007 a0003c0011t0004 a0003c0014t0002	a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0003g0001 others(52): Show a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0003g0001 a0001c0001t0003g0071 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0156 a0001c0001t0003g0166 a0001c0001t0005g0014 a0001c0001t0005g0065 a0001c0001t0005g0289 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0152 a0001c0003t0002g0026 a0001c0003t0002g0077 a0001c0003t0020g0006 a0001c0004t0002g0023 a0001c0004t0002g0110 a0001c0004t0002g0162 a0001c0004t0002g0280 a0001c0007t0001g0017 a0001c0007t0003g0015 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0196 a0002c0002t0001g0204 a0002c0002t0002g0175 a0002c0002t0002g0180 a0002c0002t0002g0200 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0005g0264 a0002c0002t0022g0233 a0002c0005t0001g0304 a0002c0005t0003g0198 a0002c0005t0003g0202 a0002c0005t0003g0246 a0002c0005t0003g0247 a0002c0005t0005g0251 a0002c0006t0008g0273 a0002c0008t0001g0197 a0002c0008t0001g0213 a0002c0008t0001g0242 a0002c0008t0001g0262 a0002c0008t0023g0248 a0002c0015t0001g0297 a0002c0015t0021g0309 a0002c0020t0001g0310 a0003c0009t0007g0036 a0003c0011t0004g0041 a0003c0014t0002g0046	56	167	0.3353	-29	c.31 others(40): Show c.3183_*3211delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding		1719		chr17	TogoVar
COX20_chr1_244830658_244850057	244835582	TGGCGGCC others(22): Show TGGCGGCCGGCGCGTCGGAACAGGGCGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	294	0.0034	-29	c.-13 others(38): Show c.-132_-104delGGCGGCCGGCGCGTCGGAACAGGGCGGGA	COX20	ENSG00000203667.10	transcript	ENST00000411948.7	protein_coding		75		chr1	TogoVar
CPA6_chr8_67417038_67751360	67475797	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	142	0.0070	-29	c.838 others(46): Show c.838+7942_838+7970delAAAAGAAAGGAAAGAAAGAAAGAAAGAA A	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475801	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCCTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	135	0.0074	-29	c.838 others(46): Show c.838+7938_838+7966delAAAGAAAAGAAAGGAAAGAAAGAAAGAA A	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475805	CTTTCTTT others(22): Show CTTTCTTTCTTTCCTTTCTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0126 a0002c0002t0001g0073 a0001c0001t0001g0126 a0002c0002t0001g0073	2	119	0.0168	-29	c.838 others(46): Show c.838+7934_838+7962delAAAGAAAGAAAAGAAAGGAAAGAAAGAA A	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16905540	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAGGAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0026 a0026	a0026c0067 a0026c0067	a0026c0067t0001 a0026c0067t0001	a0026c0067t0001g0004 a0026c0067t0001g0004	1	143	0.0070	-29	c.402 others(47): Show c.4028-1017_4028-989delCTTTTCTTCCTTTTTTTTTTTTTTTTT TT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPLX1_chr4_779957_831129	826314	GGGGCGGG others(22): Show GGGGCGGGGGCGGGGGGTGGACCCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	414	0.0024	-29	c.-37 others(38): Show c.-377_-349delGCCCCCGGGTCCACCCCCCGCCCCCGCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		186		chr4	TogoVar
CPLX1_chr4_779957_831129	826442	GGGGGCGG others(22): Show GGGGGCGGGGGCGGGGGGTGGACCCGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0386	1	388	0.0026	-29	c.-50 others(38): Show c.-505_-477delGCCCCGGGTCCACCCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		314		chr4	TogoVar
CPPED1_chr16_12654799_12808887	12757096	TGAGGGTG others(22): Show TGAGGGTGACCAACTAAGTTACAGCACCTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0137 a0004c0004t0006g0137	1	288	0.0035	-29	c.289 others(48): Show c.289+24060_289+24088delGAGGTGCTGTAACTTAGTTGGTCACC CTC	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPZ_chr4_8587765_8624752	8591027	AACAGGGT others(22): Show AACAGGGTCAGACCCACTTTTATCCCCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(18): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03654.hp2 HG03942.hp2 NA19240.hp1	a0001 a0004 a0007 others(2): Show a0001 a0004 a0007 a0013 a0024	a0001c0001 a0001c0012 a0004c0002 others(5): Show a0001c0001 a0001c0012 a0004c0002 a0004c0017 a0004c0018 a0007c0025 a0013c0027 a0024c0045	a0001c0001t0001 a0001c0012t0002 a0004c0002t0004 others(5): Show a0001c0001t0001 a0001c0012t0002 a0004c0002t0004 a0004c0017t0002 a0004c0018t0004 a0007c0025t0002 a0013c0027t0002 a0024c0045t0002	a0001c0001t0001g0220 a0001c0012t0002g0221 a0001c0012t0002g0222 others(17): Show a0001c0001t0001g0220 a0001c0012t0002g0221 a0001c0012t0002g0222 a0004c0002t0004g0206 a0004c0002t0004g0207 a0004c0002t0004g0208 a0004c0002t0004g0209 a0004c0002t0004g0210 a0004c0002t0004g0212 a0004c0002t0004g0215 a0004c0002t0004g0216 a0004c0017t0002g0217 a0004c0017t0002g0218 a0004c0018t0004g0211 a0004c0018t0004g0213 a0004c0018t0004g0214 a0007c0025t0002g0223 a0007c0025t0002g0224 a0013c0027t0002g0060 a0024c0045t0002g0219	21	440	0.0477	-29	c.-18 others(40): Show c.-1806_-1778delACAGGGTCAGACCCACTTTTATCCCCAGC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		1737		chr4	TogoVar
CRB1_chr1_197263252_197483455	197354813	CCCCGCCC others(22): Show CCCCGCCCCCCCACCCCCCCCCCCCGCCCA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	184	0.0054	-29	c.989 others(46): Show c.989-2014_989-1986delGCCCCCCCACCCCCCCCCCCCGCCCACC C	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB1_chr1_197263252_197483455	197354817	GCCCCCCC others(22): Show GCCCCCCCACCCCCCCCCCCCGCCCACCCC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03688.hp2 HG01070.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0118 a0001c0001t0001g0038 a0001c0001t0001g0118	2	160	0.0125	-29	c.989 others(46): Show c.989-2006_989-1978delACCCCCCCCCCCCGCCCACCCCCCCCCC C	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	16	0.0625	-29	c.-32 others(40): Show c.-3211_-3183delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		3037		chr19	TogoVar
CREBBP_chr16_3720054_3885713	3849417	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	284	0.0035	-29	c.798 others(44): Show c.798+851_798+879delACACACACACACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CRELD2_chr22_49913634_49932537	49928741	GAGGGTGG others(22): Show GAGGGTGGAGCCACCCACGGGTGGGTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02040.hp2 others(25): Show HG00741.hp1 HG01891.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02257.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA18966.hp2 NA19004.hp2 NA19043.hp2 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0012 a0004c0006	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0005t0002 a0002c0012t0001 a0004c0006t0004	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0043 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0003t0002g0035 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0005t0002g0018 a0002c0005t0002g0146 a0002c0012t0001g0088 a0004c0006t0004g0029 a0004c0006t0004g0124	28	322	0.0870	-29	c.14 others(40): Show c.1435_*1463delAGGGTGGAGCCACCCACGGGTGGGTGGGA	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding		1205		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240984947	CCACACAC others(22): Show CCACACACACACACCCAGGCACTCACTCCA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0115 a0006c0006t0003g0115	1	341	0.0029	-29	c.455 others(48): Show c.4551+1928_4551+1956delACACCCAGGCACTCACTCCACACACA CAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985382	CACTCCAC others(22): Show CACTCCACACACACACCCAGGCACTCCACA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	348	0.0029	-29	c.455 others(48): Show c.4551+2354_4551+2382delACTCCACACACACACCCAGGCACTCC ACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CRTC3_chr15_90524923_90650345	90644803	CTGCATAC others(22): Show CTGCATACTTCAGAGTAAACTATTTTTCAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0191 a0001c0001t0040g0191	1	274	0.0036	-29	c.26 others(40): Show c.2665_*2693delGCATACTTCAGAGTAAACTATTTTTCATT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	15/15	2665	INFO_REALIGN_3_PRIME	chr15	TogoVar

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