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	cds cds pos length	aa aa pos length	distance	status	chr	external
CDH20_chr18_61328430_61560779	61390719	CAGGGAAG others(34): Show CAGGGAAGGAAATAGTGGTTGTTCAAGACAGTTGCCTAGGTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	278	0.0036	-41	c.-15 others(62): Show c.-153+56912_-153+56952delGTTCAAGACAGTTGCCTAGGTTAG GGAAGGAAATAGTGGTT		CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH20_chr18_61328430_61560779	61390749	GTTGCCTA others(34): Show GTTGCCTAGGTTAGGGAAGGAAATAGTGGTTATTCAAGACAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	278	0.0036	-41	c.-15 others(62): Show c.-153+56933_-153+56973delTAGGGAAGGAAATAGTGGTTATTC AAGACAATTGCCTAGGT		CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH3_chr16_68640310_68705292	68683665	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02027.hp1 HG04199.hp1 others(1): Show HG01978.hp1 HG02027.hp1 HG04199.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0001t0017 a0001c0010t0003 a0001c0001t0003 a0001c0001t0017 a0001c0010t0003	a0001c0001t0003g0251 a0001c0001t0017g0114 a0001c0010t0003g0049 others(1): Show a0001c0001t0003g0251 a0001c0001t0017g0114 a0001c0010t0003g0049 a0001c0010t0003g0092	4	336	0.0119	-41	c.118 others(58): Show c.1183-873_1183-833delAAAAAAAAAAAAGAAAATCCAGCCTGGA CAACATGGAGAAA		CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding	9/15				INFO_REALIGN_3_PRIME	chr16	TogoVar
CDK12_chr17_39456486_39539544	39499185	TTCTTTCT others(34): Show TTCTTTCTTTCTTTCTTTCTTTCCTTTTTTTTTTTTTTTTGA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	256	0.0039	-41	c.242 others(60): Show c.2420-2064_2420-2024delTCTTTCTTTCTTTCTTTCTTTCCTTT TTTTTTTTTTTTTGA		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					chr17	TogoVar
CDK14_chr7_90591321_91215590	90649365	CTTTCCTT others(34): Show CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	129	0.0078	-41	c.123 others(60): Show c.123+45119_123+45159delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTCTTT		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201837432	GGGAAGGA others(34): Show GGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	318	0.0031	-41	c.851 others(58): Show c.851+1686_851+1726delAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAA		CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK19_chr6_110604978_110820469	110643925	AAATTTTA others(34): Show AAATTTTAATTAAATTAATTAAAAATTAAGTTAATTTAATTT	A A	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	1	298	0.0034	-41	c.457 others(58): Show c.457-5260_457-5220delAAATTAAATTAACTTAATTTTTAATTAA TTTAATTAAAATT		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12					chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123274770	GGAAGGAA others(34): Show GGAAGGAAAGAAAGAAAGAAAAAGAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	315	0.0032	-41	c.-31 others(52): Show c.-3193_-3153delTTTCTTTCTTTCTTTCTTCTTTTTCTTTCTTTCT TTCCTTC		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding				2915		chr12	TogoVar
CDKAL1_chr6_20529457_21237404	20864222	TAACTGCA others(34): Show TAACTGCAACTGACTTAACTTAACTTACTTAACTTAAAATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	194	0.0052	-41	c.742 others(60): Show c.742+18050_742+18090delCAACTGACTTAACTTAACTTACTTAA CTTAAAATGCAACTG		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15				INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM20_chr19_44501159_44534675	44532540	AAAGGAAA others(34): Show AAAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0084 a0009c0007t0001g0084	1	431	0.0023	-41	c.-30 others(52): Show c.-3072_-3032delCTTTCTTTCTTTCTTTTCTTTCTTTCTTCCTTTC TTTCCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding				2866		chr19	TogoVar
CECR2_chr22_17364460_17563151	17419529	GAGGAAGA others(34): Show GAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0203 a0001c0001t0024g0255 a0001c0001t0003g0203 a0001c0001t0024g0255	2	322	0.0062	-41	c.126 others(60): Show c.126+49622_126+49662delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18				INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPP_chr9_92320953_92625529	92527736	TATTGTGA others(34): Show TATTGTGATTGTTTCTTAGTAGAAACCTACAATGGTAGTAGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	260	0.0038	-41	c.565 others(60): Show c.565-83576_565-83536delTTGTGATTGTTTCTTAGTAGAAACCT ACAATGGTAGTAGCA		CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7				INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP128_chr14_80491479_80946738	80704684	ATAAAATT others(34): Show ATAAAATTAGGATGGTAATGATACTGATGTCAAAATTTAGCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01123.hp1 others(20): Show HG00642.hp1 HG00735.hp2 HG01123.hp1 HG01243.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp1 NA18947.hp2 NA18952.hp2 NA18960.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19060.hp2 NA19072.hp2 NA19079.hp1 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0001c0019 a0008c0011 others(1): Show a0001c0001 a0001c0019 a0008c0011 a0012c0016	a0001c0001t0002 a0001c0001t0006 a0001c0019t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0019t0002 a0008c0011t0002 a0012c0016t0006	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 others(20): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0006g0100 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0019t0002g0123 a0008c0011t0002g0109 a0008c0011t0002g0121 a0012c0016t0006g0105	23	162	0.1420	-41	c.280 others(62): Show c.2806+38350_2806+38390delGGCTAAATTTTGACATCAGTATCA TTACCATCCTAATTTTA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24					chr14	TogoVar
CEP131_chr17_81184596_81227965	81188437	CAAGGGGA others(34): Show CAAGGGGACCAGGGACGATGCCACCTGGAAGGATAAAGACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0002 a0002c0047t0002	a0002c0047t0002g0034 a0002c0047t0002g0034	1	382	0.0026	-41	c.12 others(52): Show c.1291_*1331delACGTCTTTATCCTTCCAGGTGGCATCGTCCCTGG TCCCCTT		CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding				1158		chr17	TogoVar
CFAP298_chr21_32594354_32617377	32612257	AGGTACTG others(34): Show AGGTACTGAGGCGTTGAGAAGGCCCCGGCTGCGTGGCCCGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG02056.hp2 HG02738.hp1 others(3): Show HG00099.hp1 HG02056.hp2 HG02738.hp1 NA18948.hp2 NA19074.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0218 a0001c0001t0012g0014 a0001c0001t0012g0218	6	414	0.0145	-41	c.-55 others(48): Show c.-55_-15delCGCGGGCCACGCAGCCGGGGCCTTCTCAACGCCTCAGT ACC		CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/7			15		chr21	TogoVar
CFAP46_chr10_132803392_132947570	132888686	CTGCCACC others(34): Show CTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 NA18940.hp2 HG00280.hp1 HG00733.hp1 NA18940.hp2	a0011 a0018 a0011 a0018	a0011c0010 a0018c0020 a0011c0010 a0018c0020	a0011c0010t0001 a0018c0020t0001 a0011c0010t0001 a0018c0020t0001	a0011c0010t0001g0213 a0018c0020t0001g0202 a0018c0020t0001g0203 a0011c0010t0001g0213 a0018c0020t0001g0202 a0018c0020t0001g0203	3	244	0.0123	-41	c.330 others(60): Show c.3305-2768_3305-2728delTGCAGGCGGCAGGGGTGCAGGCGGCA GGGGTGAAGGTGGCA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888792	GCCTGCAC others(34): Show GCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02886.hp1 HG00733.hp2 HG02886.hp1	a0031 a0052 a0031 a0052	a0031c0101 a0052c0037 a0031c0101 a0052c0037	a0031c0101t0002 a0052c0037t0001 a0031c0101t0002 a0052c0037t0001	a0031c0101t0002g0022 a0052c0037t0001g0230 a0031c0101t0002g0022 a0052c0037t0001g0230	2	233	0.0086	-41	c.330 others(60): Show c.3305-2874_3305-2834delTGGCAGGTGCAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57					chr10	TogoVar
CFAP46_chr10_132803392_132947570	132896112	TGGTGAGA others(34): Show TGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0201 a0024c0017t0001g0201	1	238	0.0042	-41	c.321 others(60): Show c.3219+2806_3219+2846delGTGTCTTCATGTGGCACACAGAGCCT GGCTGCCTTCTCACC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57					chr10	TogoVar
CFAP52_chr17_9571642_9648447	9629685	TTACAGGC others(34): Show TTACAGGCACGCTCCTGCCTCAGCCTCCCAAGTATCTGGGAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02895.hp2 others(4): Show HG02145.hp2 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0001 a0001c0005t0004 a0001c0004t0004 a0001c0005t0001 a0001c0005t0004	a0001c0004t0004g0001 a0001c0004t0004g0037 a0001c0004t0004g0198 others(3): Show a0001c0004t0004g0001 a0001c0004t0004g0037 a0001c0004t0004g0198 a0001c0005t0001g0075 a0001c0005t0001g0078 a0001c0005t0004g0214	7	314	0.0223	-41	c.117 others(58): Show c.1174+873_1174+913delACGCTCCTGCCTCAGCCTCCCAAGTATC TGGGACTACAGGC		CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP77_chr9_132405211_132578319	132486035	TATATATG others(34): Show TATATATGTATGTATATGTATGTGTGTGTGTGTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18953.hp1 NA18964.hp1 others(1): Show HG03654.hp2 NA18953.hp1 NA18964.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0002c0003t0001 a0001c0001t0001 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0293 a0001c0001t0004g0287 a0002c0003t0001g0018 others(1): Show a0001c0001t0001g0293 a0001c0001t0004g0287 a0002c0003t0001g0018 a0002c0003t0001g0093	4	317	0.0126	-41	c.196 others(60): Show c.196-12659_196-12619delATATATGTATGTATATGTATGTGTGT GTGTGTATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486037	TATATGTA others(34): Show TATATGTATGTATATGTATGTGTGTGTGTGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01256.hp1 others(5): Show HG00741.hp2 HG01109.hp1 HG01256.hp1 HG01975.hp1 HG02523.hp2 HG03669.hp1 NA18964.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0045 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0045 a0001c0001t0001g0096 a0001c0001t0001g0125 a0001c0001t0001g0263 a0001c0001t0002g0053 a0002c0003t0001g0088 a0002c0003t0001g0262	8	315	0.0254	-41	c.196 others(60): Show c.196-12657_196-12617delATATGTATGTATATGTATGTGTGTGT GTGTATATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486039	TATGTATG others(34): Show TATGTATGTATATGTATGTGTGTGTGTGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0186 a0008c0018t0001g0186	1	306	0.0033	-41	c.196 others(60): Show c.196-12655_196-12615delATGTATGTATATGTATGTGTGTGTGT GTATATATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					chr9	TogoVar
CHD5_chr1_6096787_6185321	6174895	AGATGGTG others(34): Show AGATGGTGGGTGGGTGGATGGATGGATGGTGGATGAAGGATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0223 a0001c0008t0012g0224 a0001c0008t0012g0223 a0001c0008t0012g0224	2	306	0.0065	-41	c.79+ others(56): Show c.79+5009_79+5049delCATCCTTCATCCACCATCCATCCATCCACC CACCCACCATC		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	1/41					chr1	TogoVar
CHID1_chr11_862859_915810	896587	ACCCCCAG others(34): Show ACCCCCAGCCTCCACCCCAGACACAATGAGCCTGTCTCAGTG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp1 HG02015.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	2	384	0.0052	-41	c.608 others(58): Show c.608+2712_608+2752delCACTGAGACAGGCTCATTGTGTCTGGGG TGGAGGCTGGGGG		CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12					chr11	TogoVar
CHML_chr1_241623851_241645369	241639739	GAGCGGGG others(34): Show GAGCGGGGCGGTGTAGGGCGGGGGGCGCGGGGCCGAGCGGGA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	450	0.0022	-41	c.-30 others(58): Show c.-308+102_-308+142delTCCCGCTCGGCCCCGCGCCCCCCGCCCT ACACCGCCCCGCT		CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding	1/1					chr1	TogoVar
CHST13_chr3_126519155_126548291	126545952	TTCACTTT others(34): Show TTCACTTTTCAAGTATCCCAATGTCAAAGGGAAAAGAAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	362	0.0028	-41	c.33 others(52): Show c.3375_*3415delTCACTTTTCAAGTATCCCAATGTCAAAGGGAAAA GAAGGGC		CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding				2662		chr3	TogoVar
CHTOP_chr1_153629066_153651306	153646621	ATGCAGGG others(34): Show ATGCAGGGATTACAGGCGTGACCCACTTTCAGCCTCCCAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA21309.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0069 a0001c0001t0001g0084	2	370	0.0054	-41	c.13 others(52): Show c.1353_*1393delTGCAGGGATTACAGGCGTGACCCACTTTCAGCCT CCCAAAG		CHTOP	ENSG00000160679.14	transcript	ENST00000368694.8	protein_coding				316		chr1	TogoVar
CIZ1_chr9_128161065_128196572	128180306	GCTCCAGC others(34): Show GCTCCAGCTCCACTGAATGGTGCACCCCCTCTGCCATTGCCA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	378	0.0026	-41	c.791 others(55): Show c.791+68_791+108delTGGCAATGGCAGAGGGGGTGCACCATTCAGT GGAGCTGGAG		CIZ1	ENSG00000148337.22	transcript	ENST00000372938.10	protein_coding	7/16					chr9	TogoVar
CLCC1_chr1_108924505_108968484	108968262	GAAATAGC others(34): Show GAAATAGCTTATTTTCCTAGTTTTAAACTTAACACAACTTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	-41	c.-51 others(52): Show c.-5115_-5075delATAAGTTGTGTTAAGTTTAAAACTAGGAAAATAA GCTATTT		CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding				4779		chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210479	TATATATA others(34): Show TATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18988.hp2 NA19062.hp1 others(1): Show NA18612.hp1 NA18988.hp2 NA19062.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0000 a0002c0002t0002g0000 a0001c0001t0001g0000 a0002c0002t0002g0000	4	464	0.0086	-41	c.47 others(52): Show c.4728_*4768delGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding				3526		chr21	TogoVar
CLN8_chr8_1758789_1791570	1763576	CCCCCGCC others(34): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	-41	c.-43 others(50): Show c.-432_-392delCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding				212		chr8	TogoVar
CLSTN2_chr3_139930185_140582397	140535975	TTTTTAAA others(34): Show TTTTTAAAAACACACAAGAATGCTGCGTTCCCCTTACTAATC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG01346.hp2 others(7): Show HG01123.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG02135.hp2 HG03704.hp1 HG04199.hp1 NA18977.hp1 NA19079.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0039 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0039 a0002c0002t0001 a0002c0004t0001 a0002c0004t0007 a0002c0004t0017 a0002c0004t0038 a0002c0007t0003	a0001c0001t0001g0063 a0001c0001t0039g0080 a0002c0002t0001g0065 others(7): Show a0001c0001t0001g0063 a0001c0001t0039g0080 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0004t0001g0072 a0002c0004t0007g0067 a0002c0004t0017g0061 a0002c0004t0038g0108 a0002c0007t0003g0043	10	110	0.0909	-41	c.150 others(60): Show c.1507+3536_1507+3576delAAAACACACAAGAATGCTGCGTTCCC CTTACTAATCTTTTA		CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	9/16				INFO_REALIGN_3_PRIME	chr3	TogoVar
CMIP_chr16_81439808_81716762	81704340	CTCACCCT others(34): Show CTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG02622.hp2 others(2): Show HG01192.hp2 HG01256.hp2 HG02622.hp2 HG03491.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0028 a0001c0001t0035	a0001c0001t0001g0040 a0001c0001t0003g0266 a0001c0001t0006g0126 others(2): Show a0001c0001t0001g0040 a0001c0001t0003g0266 a0001c0001t0006g0126 a0001c0001t0028g0083 a0001c0001t0035g0064	5	266	0.0188	-41	c.209 others(58): Show c.2091+272_2091+312delCCCCCTTACTCTCCTCCCTGCCCCTTCA CCCTCCTCCCTGC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20				INFO_REALIGN_3_PRIME	chr16	TogoVar
COL13A1_chr10_69796906_69964144	69869007	GGCCTCCT others(34): Show GGCCTCCTGCACACACCTCACCCCCAGGGGCAGGATGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG03195.hp1 HG02055.hp2 HG02145.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0024 a0001c0001 a0001c0007 a0002c0024	a0001c0001t0001 a0001c0007t0001 a0002c0024t0003 a0001c0001t0001 a0001c0007t0001 a0002c0024t0003	a0001c0001t0001g0110 a0001c0007t0001g0210 a0002c0024t0003g0264 a0001c0001t0001g0110 a0001c0007t0001g0210 a0002c0024t0003g0264	3	322	0.0093	-41	c.372 others(58): Show c.372+1231_372+1271delGCAGGATGCTGCAGCCTCCTGCACACAC CTCACCCCCAGGG		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	3/40				INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45440469	CAAGCAGT others(34): Show CAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	150	0.0067	-41	c.107 others(60): Show c.107-27643_107-27603delTCGGGGCCTGCTGGGGTTTGAGCCAC GTTCCCCGGAAGCAG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489956	GCCCCACA others(34): Show GCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG03579.hp2 others(3): Show HG01070.hp2 HG01123.hp1 HG03579.hp2 HG03654.hp1 HG03942.hp1 HG04184.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0004 a0006c0016 a0006c0048 others(1): Show a0001c0004 a0006c0016 a0006c0048 a0013c0062	a0001c0004t0001 a0006c0016t0001 a0006c0016t0002 others(2): Show a0001c0004t0001 a0006c0016t0001 a0006c0016t0002 a0006c0048t0002 a0013c0062t0002	a0001c0004t0001g0149 a0006c0016t0001g0062 a0006c0016t0001g0211 others(3): Show a0001c0004t0001g0149 a0006c0016t0001g0062 a0006c0016t0001g0211 a0006c0016t0002g0292 a0006c0048t0002g0087 a0013c0062t0002g0075	6	289	0.0208	-41	c.196 others(58): Show c.1960-257_1960-217delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCTCCCCCAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178349478	CGGCCCTC others(34): Show CGGCCCTCCGCTAGGCGGGCCCATCCCCCATGCCCCACACCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	236	0.0042	-41	c.362 others(60): Show c.362-42600_362-42560delAGGTGTGGGGCATGGGGGATGGGCCC GCCTAGCGGAGGGCC		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28					chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547599	CCACACAC others(34): Show CCACACACACACCCCCCACACACACCCACCCACACCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0195 a0002c0003t0003g0195	1	224	0.0045	-41	c.361 others(60): Show c.361+13042_361+13082delTGGGGGGGTGTGGGTGGGTGTGTGTG GGGGGTGTGTGTGTG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28					chr5	TogoVar
COL23A1_chr5_178232618_178595393	178587491	GCAAGGAT others(34): Show GCAAGGATGTCTTTTCTTTAATGTGGACATGGTTTCTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0059 a0001c0005t0005g0059	1	236	0.0042	-41	c.294 others(58): Show c.294+2372_294+2412delGAGGCAGAAACCATGTCCACATTAAAGA AAAGACATCCTTG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28					chr5	TogoVar
COL4A2_chr13_110302284_110518209	110506330	TAGGTGCA others(34): Show TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0002 a0003c0010t0004g0002	2	370	0.0054	-41	c.440 others(53): Show c.4403-24_4419delCTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAG GCCGTCCA	p.Ala others(6): Show p.Ala1469fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	46/48	4403/5139	1468/1712		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45977799	GAGGGGGA others(34): Show GAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	126	0.0079	-41	c.-40 others(52): Show c.-4051_-4011delAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGG AGGGGGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding				3970		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46002813	AGTCCCAG others(34): Show AGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0002 a0014c0020t0002g0002	1	126	0.0079	-41	c.243 others(58): Show c.2434+116_2434+156delCGTAGGTGCACGCGGGGCCGCCCAGGGC CGTCCCAGATCTG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01358.hp1 others(20): Show HG01081.hp1 HG01255.hp2 HG01358.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0011 a0044 a0051	a0003c0031 a0003c0039 a0003c0121 others(8): Show a0003c0031 a0003c0039 a0003c0121 a0004c0071 a0005c0008 a0005c0012 a0005c0090 a0011c0034 a0011c0053 a0044c0137 a0051c0099	a0003c0031t0003 a0003c0039t0001 a0003c0039t0002 others(13): Show a0003c0031t0003 a0003c0039t0001 a0003c0039t0002 a0003c0121t0002 a0004c0071t0003 a0005c0008t0001 a0005c0008t0003 a0005c0008t0004 a0005c0012t0001 a0005c0012t0002 a0005c0012t0003 a0005c0090t0002 a0011c0034t0004 a0011c0053t0003 a0044c0137t0002 a0051c0099t0003	a0003c0031t0003g0192 a0003c0031t0003g0194 a0003c0039t0001g0174 others(20): Show a0003c0031t0003g0192 a0003c0031t0003g0194 a0003c0039t0001g0174 a0003c0039t0002g0161 a0003c0121t0002g0189 a0004c0071t0003g0176 a0005c0008t0001g0085 a0005c0008t0003g0131 a0005c0008t0004g0082 a0005c0008t0004g0100 a0005c0008t0004g0178 a0005c0008t0004g0179 a0005c0012t0001g0300 a0005c0012t0002g0130 a0005c0012t0002g0140 a0005c0012t0003g0115 a0005c0012t0003g0142 a0005c0090t0002g0120 a0011c0034t0004g0102 a0011c0034t0004g0103 a0011c0053t0003g0093 a0044c0137t0002g0080 a0051c0099t0003g0150	23	63	0.3651	-41	c.766 others(58): Show c.7668+795_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43					chr2	TogoVar
COL6A6_chr3_130512177_130682042	130546732	GTTTACAA others(34): Show GTTTACAAACCTTGAGCTAGACACAGGATGCTGATTGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show HG00408.hp1 HG00621.hp2 HG02129.hp2 HG03831.hp1 NA18966.hp2	a0007 a0010 a0011 others(1): Show a0007 a0010 a0011 a0030	a0007c0018 a0010c0016 a0011c0008 others(1): Show a0007c0018 a0010c0016 a0011c0008 a0030c0066	a0007c0018t0003 a0007c0018t0009 a0010c0016t0001 others(2): Show a0007c0018t0003 a0007c0018t0009 a0010c0016t0001 a0011c0008t0001 a0030c0066t0003	a0007c0018t0003g0015 a0007c0018t0009g0257 a0010c0016t0001g0113 others(2): Show a0007c0018t0003g0015 a0007c0018t0009g0257 a0010c0016t0001g0113 a0011c0008t0001g0130 a0030c0066t0003g0175	5	261	0.0192	-41	c.-31 others(60): Show c.-31-13576_-31-13536delGATGCTGATTGGTGCATTTACAAACC TTGAGCTAGACACAG		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36				INFO_REALIGN_3_PRIME	chr3	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	219	0.0046	-41	c.574 others(54): Show c.574-90_574-50delATATATATATATATATATATATATATATATAT ATATATATA		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7					chr8	TogoVar
CPA6_chr8_67417038_67751360	67475785	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18964.hp1 HG01175.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0025 a0001c0001t0001g0041 a0001c0001t0002g0025	2	117	0.0171	-41	c.838 others(58): Show c.838+7942_838+7982delAAAAGAAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10					chr8	TogoVar
CPED1_chr7_120983711_121302442	121047676	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02922.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0015 a0001c0001 a0001c0007 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0007t0006 a0001c0015t0002	a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0007t0001g0113 others(2): Show a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0007t0001g0113 a0001c0007t0006g0112 a0001c0015t0002g0123	5	137	0.0365	-41	c.540 others(56): Show c.540+686_540+726delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89570861	CGGGGACG others(34): Show CGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAGGTGAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0322 a0001c0015t0001g0322	1	345	0.0029	-41	c.-50 others(52): Show c.-5036_-4996delGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAG GTGAGCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding				4896		chr16	TogoVar
CPT2_chr1_53191824_53219197	53218485	GCCACACT others(34): Show GCCACACTGTCCTGGCAAAAAGCAAACAGAACTTTCAGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	384	0.0026	-41	c.48 others(52): Show c.4891_*4931delCCACACTGTCCTGGCAAAAAGCAAACAGAACTTT CAGTCAC		CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding				4289		chr1	TogoVar
CR1L_chr1_207640133_207728703	207721280	GTGCTGCA others(34): Show GTGCTGCAACCACTAACTCGTCATCTAGCATTAGGTATATCT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0247 a0003c0003t0001g0247	1	344	0.0029	-41	c.164 others(60): Show c.1643-2337_1643-2297delTGCTGCAACCACTAACTCGTCATCTA GCATTAGGTATATCT		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	11/11					chr1	TogoVar

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