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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHMP1A_chr16_89639435_89662708	89648362	A A	ACACCCAG others(35): Show ACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	276	0.0036	42	c.252 others(57): Show c.252+988_252+989insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648362	A A	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	276	0.0036	42	c.252 others(57): Show c.252+988_252+989insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648370	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	279	0.0036	42	c.252 others(57): Show c.252+980_252+981insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648370	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03195.hp2 HG01257.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0057 a0001c0001t0007g0143 a0001c0001t0003g0057 a0001c0001t0007g0143	2	280	0.0071	42	c.252 others(57): Show c.252+980_252+981insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648393	C C	CGCCGACG others(35): Show CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	330	0.0030	42	c.252 others(57): Show c.252+957_252+958insCGCCTTTTCTCCACCGACCCCGCGCTGGGT GTCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	230	0.0043	42	c.252 others(57): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0151	1	230	0.0043	42	c.252 others(57): Show c.252+938_252+939insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGT others(35): Show CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	230	0.0043	42	c.252 others(57): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHN2_chr7_29189775_29519328	29273326	C C	CATATATA others(35): Show CATATATATATATATATATGTGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18612.hp2 HG03710.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0004 a0001c0001t0009 a0001c0002t0004	a0001c0001t0009g0201 a0001c0002t0004g0029 a0001c0001t0009g0201 a0001c0002t0004g0029	2	173	0.0116	42	c.49+ others(59): Show c.49+78350_49+78351insATATGTGTATATATATATATATATATAT ATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472281	A A	ACACACAC others(35): Show ACACACACACACACACACACGCACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19074.hp2 NA18972.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0187 a0001c0002t0002g0183 a0001c0001t0003g0187 a0001c0002t0002g0183	2	181	0.0110	42	c.577 others(59): Show c.577-7981_577-7980insACGCACACACACACACACACACACGCAC ACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867990	A A	ATATATTC others(35): Show ATATATTCTGGATATATATATATATATTCTGGATATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0041 a0001c0001t0018g0041	1	317	0.0032	42	c.-12 others(53): Show c.-1285_-1284insTATATTCTGGATATATATATATATATTCTGGATA TATATATC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		661		chr7	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(35): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0104 a0001c0001t0044g0104	1	93	0.0108	42	c.-52 others(63): Show c.-521+20191_-521+20192insTATATATATATATATATATATATA TAGAGAGAGAGAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	93	0.0108	42	c.-52 others(63): Show c.-521+20191_-521+20192insTATATATATATATATATATATATA TATATAGAGAGAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239662893	C C	CTCCTCTT others(35): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02738.hp1 HG03831.hp2 others(5): Show HG01346.hp1 HG02738.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18955.hp1 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0030 a0001c0001t0046	a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0006g0065 others(5): Show a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0006g0065 a0001c0001t0008g0082 a0001c0001t0009g0038 a0001c0001t0011g0071 a0001c0001t0030g0023 a0001c0001t0046g0070	8	14	0.5714	42	c.-24 others(63): Show c.-249-15291_-249-15290insCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239684770	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01433.hp1 others(2): Show HG00438.hp2 HG00738.hp1 HG01433.hp1 HG01981.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0001t0058	a0001c0001t0002g0057 a0001c0001t0002g0107 a0001c0001t0007g0059 others(2): Show a0001c0001t0002g0057 a0001c0001t0002g0107 a0001c0001t0007g0059 a0001c0001t0025g0097 a0001c0001t0058g0061	5	102	0.0490	42	c.-14 others(61): Show c.-147+6483_-147+6484insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CIB4_chr2_26576205_26646366	26589042	T T	TTCTTCTT others(35): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	326	0.0031	42	c.329 others(59): Show c.329-5145_329-5144insGGAAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CIP2A_chr3_108544864_108594438	108569168	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01934.hp1 HG01952.hp2 others(4): Show HG00423.hp1 HG01934.hp1 HG01952.hp2 HG02148.hp1 HG03927.hp2 NA18987.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0311 a0001c0001t0004g0324 a0001c0001t0004g0325 others(4): Show a0001c0001t0004g0311 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0002c0002t0001g0071 a0002c0002t0001g0077	7	213	0.0329	42	c.111 others(59): Show c.1113+220_1113+221insTATATATATATATATATATATATATATA TATATATATATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03130.hp1 HG03834.hp2 others(1): Show HG01952.hp1 HG03130.hp1 HG03834.hp2 NA19064.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0018 a0001c0001 a0014c0018	a0001c0001t0002 a0014c0018t0002 a0001c0001t0002 a0014c0018t0002	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0189 others(1): Show a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0189 a0014c0018t0002g0272	4	214	0.0187	42	c.111 others(59): Show c.1113+207_1113+208insGTGTGTGTGTGTGTATATATATATATAT ATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG02056.hp1 others(9): Show HG00408.hp1 HG01074.hp1 HG02056.hp1 HG02148.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 NA18939.hp2 NA18993.hp2 NA19080.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0006 a0001c0013t0002 a0001c0001t0002 a0001c0001t0006 a0001c0013t0002	a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0002g0156 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0182 a0001c0001t0002g0237 a0001c0001t0002g0246 a0001c0001t0002g0277 a0001c0001t0006g0263 a0001c0013t0002g0157	12	222	0.0541	42	c.111 others(59): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG06807.hp1 HG04184.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0004 a0004c0004t0005 a0001c0001t0004 a0004c0004t0005	a0001c0001t0004g0332 a0004c0004t0005g0020 a0001c0001t0004g0332 a0004c0004t0005g0020	2	212	0.0094	42	c.111 others(59): Show c.1113+207_1113+208insGTATATATATATATATATATATATATAT ATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIPC_chr14_77093258_77122287	77119367	G G	GAAGGAAG others(35): Show GAAGGAAGGAAGGAGGATAACAGGAGTGGAATAGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0010 a0001c0001t0025g0010	1	424	0.0024	42	c.50 others(53): Show c.5049_*5050insAAGGAAGGAAGGAGGATAACAGGAGTGGAATAGA GAGAGGGA	CIPC	ENSG00000198894.8	transcript	ENST00000361786.7	protein_coding		2081		chr14	TogoVar
CKAP4_chr12_106232881_106253020	106237526	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	136	0.0074	42	c.14 others(53): Show c.1497_*1498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding		354		chr12	TogoVar
CLCN4_chrX_10151975_10242660	10216895	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	257	0.0039	42	c.197 others(61): Show c.1975+2817_1975+2818insATATATATATATATATATATATATAT ATATATATATATATAT	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	42	0.0238	42	c.197 others(61): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATATATATATACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLDN10_chr13_95547720_95584759	95575590	C C	CGTGTGTG others(35): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	292	0.0034	42	c.465 others(59): Show c.465-1629_465-1628insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	CLDN10	ENSG00000134873.10	transcript	ENST00000299339.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLDN17_chr21_30160565_30171805	30170182	C C	CTCTTCTT others(35): Show CTCTTCTTTCTGTAGGTGCCCTTCACCATGTTTATTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	313	0.0032	42	c.-35 others(53): Show c.-3566_-3565insCAAACAAAATAAACATGGTGAAGGGCACCTACAG AAAGAAGA	CLDN17	ENSG00000156282.5	transcript	ENST00000286808.5	protein_coding		3378		chr21	TogoVar
CLDN17_chr21_30160565_30171805	30170182	C C	CTCTTCTT others(35): Show CTCTTCTTTCTGTAGGTGCCCTTCACCATGTTTGTTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(118): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18984.hp2 NA18988.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0003c0004 a0007c0007 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0004 a0003c0004t0002 a0007c0007t0001 a0008c0009t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0010t0002g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0010t0002g0000 a0002c0002t0001g0000 a0002c0002t0004g0000 a0003c0004t0002g0000 a0007c0007t0001g0000 a0008c0009t0005g0000	121	433	0.2794	42	c.-35 others(53): Show c.-3566_-3565insCAAACAAAACAAACATGGTGAAGGGCACCTACAG AAAGAAGA	CLDN17	ENSG00000156282.5	transcript	ENST00000286808.5	protein_coding		3378		chr21	TogoVar
CLEC10A_chr17_7069537_7085251	7070600	A A	AAAAGAAA others(35): Show AAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0028 a0002c0006t0007g0028	1	161	0.0062	42	c.44 others(53): Show c.4453_*4454insCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTT CTTTCTTT	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding		3936		chr17	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG02818.hp1 HG00738.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0068 a0001c0001t0064 a0001c0001t0068	a0001c0001t0064g0175 a0001c0001t0068g0168 a0001c0001t0064g0175 a0001c0001t0068g0168	2	189	0.0106	42	c.22 others(51): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	228		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp1 others(29): Show HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01346.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02717.hp2 HG03491.hp2 HG03654.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp2 NA18947.hp2 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA19001.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp2 NA19070.hp2 NA19075.hp1 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0057 a0001c0001t0003 a0001c0001t0057	a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0029 others(14): Show a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0083 a0001c0001t0003g0106 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0177 a0001c0001t0003g0181 a0001c0001t0057g0196	32	299	0.1070	42	c.21 others(51): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	50	0.0200	42	c.-80 others(51): Show c.-805_-804insATATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02273.hp2 HG00280.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	51	0.0392	42	c.-80 others(51): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT TTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	42	c.-80 others(51): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT ATTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	42	c.-80 others(51): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT ATATTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLIC5_chr6_45893456_46020860	45958423	T T	TTTATATA others(35): Show TTTATATATATATATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	338	0.0030	42	c.64- others(57): Show c.64-3180_64-3179insGTGTGTGTGTGTGTGTGTGTATATATATAT ATATATATATAA	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	45958435	T T	TATATATA others(35): Show TATATATACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0029	1	332	0.0030	42	c.64- others(57): Show c.64-3192_64-3191insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLN3_chr16_28472279_28497074	28492643	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	285	0.0035	42	c.-70 others(51): Show c.-701_-700insATATATATATATATATATATATATATATATATATAT ATATAT	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding		570		chr16	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp1 HG01071.hp1 others(8): Show HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01981.hp1 HG02004.hp2 HG02615.hp1 HG03540.hp1 NA18978.hp1 NA18991.hp2 NA19084.hp2 NA19090.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0006 a0007c0011 a0001c0001 a0004c0006 a0007c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0051 a0004c0006t0004 a0004c0006t0018 a0007c0011t0030	a0001c0001t0003g0005 a0001c0001t0005g0004 a0001c0001t0005g0296 others(8): Show a0001c0001t0003g0005 a0001c0001t0005g0004 a0001c0001t0005g0296 a0001c0001t0008g0254 a0001c0001t0010g0269 a0001c0001t0051g0244 a0004c0006t0004g0082 a0004c0006t0018g0080 a0004c0006t0018g0081 a0004c0006t0018g0083 a0007c0011t0030g0199	11	232	0.0474	42	c.11+ others(59): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654393	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA20905.hp1 HG01070.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0047 a0003c0003t0008 a0003c0003t0047	a0003c0003t0008g0115 a0003c0003t0047g0110 a0003c0003t0008g0115 a0003c0003t0047g0110	2	311	0.0064	42	c.11+ others(59): Show c.11+13465_11+13466insCATATATATATATATATATATATATATA TATATATATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1314265	T T	TTGCAAGG others(35): Show TTGCAAGGGGTGGGTGTTGTGTGGGGGGGGGGGGGGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	368	0.0027	42	c.41 others(53): Show c.4103_*4104insCACCCCCCCCCCCCCCCCCCCACACAACACCCAC CCCTTGCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding		3486		chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAGG others(35): Show AGATGAGGATAAGGGGGGGACTACTGTAGATACACGGGATGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	238	0.0042	42	c.891 others(59): Show c.891+1036_891+1037insCTCATCCCGTGTATCTACAGTAGTCCCC CCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140515138	C C	CTAGGTTT others(35): Show CTAGGTTTCCTAGTTTATGCACATAAAGGTGTTCAGTAGCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01433.hp2 others(16): Show HG00738.hp2 HG01109.hp2 HG01433.hp2 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0002 others(1): Show a0001c0006 a0001c0008 a0002c0002 a0002c0005	a0001c0006t0004 a0001c0006t0031 a0001c0008t0009 others(8): Show a0001c0006t0004 a0001c0006t0031 a0001c0008t0009 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0027 a0002c0002t0028 a0002c0005t0001 a0002c0005t0004	a0001c0006t0004g0098 a0001c0006t0031g0024 a0001c0008t0009g0042 others(16): Show a0001c0006t0004g0098 a0001c0006t0031g0024 a0001c0008t0009g0042 a0001c0008t0009g0100 a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0054 a0002c0002t0002g0086 a0002c0002t0002g0097 a0002c0002t0004g0106 a0002c0002t0005g0050 a0002c0002t0011g0103 a0002c0002t0027g0058 a0002c0002t0028g0005 a0002c0005t0001g0034 a0002c0005t0004g0038 a0002c0005t0004g0046 a0002c0005t0004g0077 a0002c0005t0004g0092	19	110	0.1727	42	c.134 others(63): Show c.1345-17185_1345-17144dupTAGGTTTCCTAGTTTATGCACATA AAGGTGTTCAGTAGCCTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUL1_chr18_591988_655182	627027	G G	GAGAAAGA others(35): Show GAGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	204	0.0049	42	c.424 others(55): Show c.424-69_424-68insGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAA GAAAAGAAAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAG others(35): Show AGAAAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01258.hp2 HG00408.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0298 a0001c0001t0001g0216 a0001c0001t0001g0298	2	123	0.0163	42	c.424 others(55): Show c.424-67_424-66insGAAAGAGAGAAAAGAAGAAAGAGAAAGAAAGA AAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0101 a0001c0001t0027g0101	1	150	0.0067	42	c.301 others(59): Show c.301-8577_301-8576insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMTM4_chr16_66609750_66701743	66633104	T T	TATATATA others(35): Show TATATATATATAAATATATATATATATAAATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	272	0.0037	42	c.363 others(59): Show c.363+3300_363+3301insTTATATATATATATTTATATATATATAT ATTTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CNBD1_chr8_86861415_87387859	87361689	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	98	0.0102	42	c.130 others(61): Show c.1303+7923_1303+7924insATATATATATATATATATATATATAT ATATATATATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129188530	G G	GCAGCTGC others(35): Show GCAGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0229 a0001c0001t0010g0229	1	428	0.0023	42	c.-47 others(53): Show c.-4770_-4769insGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAG TGCAGCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding		4635		chr3	TogoVar
CNGA2_chrX_151729746_151750564	151742927	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG02922.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0105 a0003c0003t0002g0110 a0001c0001t0002g0105 a0003c0003t0002g0110	2	314	0.0064	42	c.590 others(57): Show c.590-152_590-151insATATATATATATATATATATATACATACAT ATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0031 a0003c0003t0002g0031	2	320	0.0063	42	c.590 others(57): Show c.590-152_590-151insATATATATATATATATATATATATACATAC ATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar

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