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
C1orf159_chr1_1076823_1121089	1078701	G G	GACTCCGT others(23): Show GACTCCGTGGGGGGAGGCTGAGGCTATGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	324	0.0031	30	c.41 others(41): Show c.4191_*4192insGCCCATAGCCTCAGCCTCCCCCCACGGAGT	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3121		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078723	G G	GCTATGGG others(23): Show GCTATGGGGACTCCGTGCCGGGAGGCTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	322	0.0031	30	c.41 others(41): Show c.4169_*4170insACTCAGCCTCCCGGCACGGAGTCCCCATAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3099		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078739	G G	GGGGGGGA others(23): Show GGGGGGGAGGCTGAGGCTATGGGGACTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	324	0.0031	30	c.41 others(41): Show c.4153_*4154insACGGAGTCCCCATAGCCTCAGCCTCCCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3083		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078741	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	323	0.0031	30	c.41 others(41): Show c.4151_*4152insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3081		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078787	T T	TGGGGGAC others(23): Show TGGGGGACTCCGTGGGGGAGGCTGAGGCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	30	c.41 others(41): Show c.4105_*4106insATAGCCTCAGCCTCCCCCACGGAGTCCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3035		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078801	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01192.hp1 HG00423.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0244 a0001c0001t0016g0021 a0001c0001t0001g0244 a0001c0001t0016g0021	2	312	0.0064	30	c.40 others(41): Show c.4091_*4092insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3021		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078895	A A	AGGCTGAG others(23): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01192.hp2 others(19): Show HG01081.hp2 HG01099.hp2 HG01192.hp2 HG01261.hp1 HG02056.hp1 HG02071.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18971.hp1 NA18975.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp2 NA19054.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0302 a0001c0001t0009g0053 a0001c0001t0009g0228 a0001c0001t0009g0231	22	296	0.0743	30	c.39 others(41): Show c.3997_*3998insACCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2927		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078955	T T	TGGCTGAG others(23): Show TGGCTGAGGCTATGGGGACTCCGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(37): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG02056.hp1 HG02071.hp2 HG02257.hp1 HG02273.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG02922.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp1 NA18951.hp2 NA18960.hp2 NA18971.hp1 NA18975.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19074.hp1 NA19077.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0009g0053 a0001c0001t0009g0228 a0001c0001t0009g0231 a0001c0001t0016g0021 a0001c0001t0017g0166	40	201	0.1990	30	c.39 others(41): Show c.3937_*3938insTCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2867		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078985	A A	TGGCTGAG others(23): Show TGGCTGAGGCTATGGGGACTCCGTGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	313	0.0032	30	c.39 others(41): Show c.3908_*3909insCCCCCCACGGAGTCCCCATAGCCTCAGCCA	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2838		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079010	C C	CGGGGAGG others(23): Show CGGGGAGGCTGAGGCTATGGGGACTCCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	153	0.0065	30	c.38 others(41): Show c.3882_*3883insCCACGGAGTCCCCATAGCCTCAGCCTCCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2812		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1079371	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0275 a0001c0001t0008g0278 a0001c0001t0008g0275 a0001c0001t0008g0278	2	249	0.0080	30	c.35 others(41): Show c.3521_*3522insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		2451		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108908	G G	GGCACCGT others(23): Show GGCACCGTTCACCACAGCCACCATGTCTGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0236 a0001c0001t0008g0236	1	221	0.0045	30	c.-13 others(49): Show c.-136+7151_-136+7152insTGCAGACATGGTGGCTGTGGTGAACG GTGC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf21_chr1_184382029_184634019	184386787	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	214	0.0047	30	c.-70 others(39): Show c.-706_-705insCACACACACACACACACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		241		chr1	TogoVar
C1orf43_chr1_154201720_154225590	154203172	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	32	0.0313	30	c.42 others(41): Show c.4251_*4280dupATATATATATATATATATATATATATATAT	C1orf43	ENSG00000143612.21	transcript	ENST00000368521.10	protein_coding		3547		chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 HG03239.hp2 HG03688.hp2 HG02027.hp2 HG03239.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0005 a0001c0001t0022g0005	3	145	0.0207	30	c.39 others(39): Show c.392_*393insTATATATATATATATATATATATATATATA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	393	INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284003	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	369	0.0027	30	c.31 others(41): Show c.3172_*3173insTTATTATTATTATTATTATTATTATTATTA	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3088		chr1	TogoVar
C20orf141_chr20_2809987_2820830	2810644	T T	TGTATGCC others(23): Show TGTATGCCCCTCTTGCCCCTCCCCTCAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	30	c.-44 others(41): Show c.-4407_-4406insGTATGCCCCTCTTGCCCCTCCCCTCAACCC	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4342		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp2 HG01891.hp2 others(3): Show HG01123.hp1 HG01516.hp2 HG01891.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0017	a0001c0001t0002g0242 a0001c0001t0003g0325 a0001c0001t0014g0165 others(3): Show a0001c0001t0002g0242 a0001c0001t0003g0325 a0001c0001t0014g0165 a0001c0001t0014g0166 a0001c0001t0014g0167 a0001c0001t0017g0331	6	128	0.0469	30	c.-26 others(49): Show c.-264+6834_-264+6835insTATATATATATATATATATATATATA TATA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19063.hp2 NA19082.hp1 HG03710.hp2 NA19063.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0049 a0001c0001t0002 a0001c0001t0049	a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0049g0268 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0049g0268	3	125	0.0240	30	c.-26 others(49): Show c.-264+6834_-264+6835insTATATATATATATATATATATATATA TAAA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG03491.hp2 HG03669.hp1 others(3): Show HG01516.hp1 HG03491.hp2 HG03669.hp1 NA18522.hp1 NA18970.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0018 a0002c0002t0001 a0002c0002t0018	a0002c0002t0001g0103 a0002c0002t0001g0140 a0002c0002t0001g0163 others(3): Show a0002c0002t0001g0103 a0002c0002t0001g0140 a0002c0002t0001g0163 a0002c0002t0001g0177 a0002c0002t0001g0192 a0002c0002t0018g0119	6	176	0.0341	30	c.35 others(41): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf62_chr21_32785673_32818703	32804275	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0146 a0003c0004t0018g0146	1	70	0.0143	30	c.-65 others(47): Show c.-65+3366_-65+3367insTATATATATATATATATATATATATATA AA	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	3/3			chr21	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0011 a0002c0007t0002g0011	1	114	0.0088	30	c.16 others(41): Show c.1637_*1638insAAAAAAAAAAAATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0058 a0003c0003t0002g0058	1	114	0.0088	30	c.16 others(41): Show c.1637_*1638insAAAAAAAAAAAAAATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2L_chr11_119102344_119123544	119115102	A A	ACAACGGA others(23): Show ACAACGGAGGGAGGAGAGAAAGAGAGAGATC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	396	0.0025	30	c.190 others(47): Show c.1909+737_1909+738insCAACGGAGGGAGGAGAGAAAGAGAGAGA TC	C2CD2L	ENSG00000172375.14	transcript	ENST00000648610.2	protein_coding	13/13			chr11	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG03130.hp1 HG02486.hp1 HG03098.hp2 HG03130.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0012 a0003c0031 a0001c0003 a0002c0012 a0003c0031	a0001c0003t0009 a0002c0012t0012 a0003c0031t0018 a0001c0003t0009 a0002c0012t0012 a0003c0031t0018	a0001c0003t0009g0043 a0002c0012t0012g0282 a0003c0031t0018g0158 a0001c0003t0009g0043 a0002c0012t0012g0282 a0003c0031t0018g0158	3	116	0.0259	30	c.101 others(47): Show c.1019-460_1019-459insCACACACACACACACACACACACACACA CA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(23): Show TTCTCTCCCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp2 HG02148.hp2 others(4): Show HG01192.hp2 HG01978.hp2 HG02148.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0019 a0002c0010t0001	a0001c0001t0001g0132 a0001c0001t0002g0133 a0001c0001t0002g0264 others(4): Show a0001c0001t0001g0132 a0001c0001t0002g0133 a0001c0001t0002g0264 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0019g0147 a0002c0010t0001g0131	7	245	0.0286	30	c.280 others(47): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGGGAGA GA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03130.hp1 HG03471.hp2 HG00642.hp2 HG03130.hp1 HG03471.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0010 a0003c0031 a0009c0026 a0002c0010 a0003c0031 a0009c0026	a0002c0010t0016 a0003c0031t0018 a0009c0026t0004 a0002c0010t0016 a0003c0031t0018 a0009c0026t0004	a0002c0010t0016g0292 a0003c0031t0018g0158 a0009c0026t0004g0271 a0002c0010t0016g0292 a0003c0031t0018g0158 a0009c0026t0004g0271	3	241	0.0124	30	c.280 others(47): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	116	0.0086	30	c.280 others(47): Show c.280-4893_280-4892insGGAGGGAGGGAGAGAGAGAGAGAGAGAG AG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp2 HG03453.hp2 HG01123.hp2 HG01361.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0011 a0001c0003 a0001c0006 a0001c0011	a0001c0003t0001 a0001c0006t0008 a0001c0011t0010 a0001c0003t0001 a0001c0006t0008 a0001c0011t0010	a0001c0003t0001g0224 a0001c0006t0008g0387 a0001c0011t0010g0269 a0001c0003t0001g0224 a0001c0006t0008g0387 a0001c0011t0010g0269	3	118	0.0254	30	c.280 others(47): Show c.280-4893_280-4892insGGAGGGAGAGAGAGAGAGAGAGAGAGAG AG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01433.hp2 others(11): Show HG00741.hp2 HG01175.hp2 HG01433.hp2 HG01515.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG03831.hp1 HG04204.hp1 NA19000.hp1 NA19056.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0003 a0001c0002t0008 a0001c0003t0001 a0001c0007t0005 a0001c0039t0013	a0001c0001t0001g0042 a0001c0001t0002g0017 a0001c0001t0003g0366 others(11): Show a0001c0001t0001g0042 a0001c0001t0002g0017 a0001c0001t0003g0366 a0001c0001t0003g0383 a0001c0001t0003g0384 a0001c0001t0005g0259 a0001c0001t0011g0210 a0001c0002t0003g0365 a0001c0002t0008g0311 a0001c0003t0001g0258 a0001c0003t0001g0385 a0001c0007t0005g0041 a0001c0007t0005g0059 a0001c0039t0013g0302	14	129	0.1085	30	c.280 others(47): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	20	0.0500	30	c.152 others(47): Show c.1520+837_1520+866dupATATATATATATATATATATATATATAT AT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	400637	C C	CCAGGGGT others(23): Show CCAGGGGTCCCCAGGCCCACCCTCACTCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	314	0.0032	30	c.64 others(41): Show c.6458_*6459insCAAGAGTGAGGGTGGGCCTGGGGACCCCTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4807		chr19	TogoVar
C2CD4C_chr19_400445_414147	400644	T T	CCCCAGGC others(23): Show CCCCAGGCCCACCCTCACTCTTCCAGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	315	0.0032	30	c.64 others(41): Show c.6452_*6453insACCCCTGGAAGAGTGAGGGTGGGCCTGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4801		chr19	TogoVar
C2CD4C_chr19_400445_414147	400666	G G	GCAGGGGT others(23): Show GCAGGGGTTCCCAGGCCCACCCTCACTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0128 a0001c0002t0067g0128	1	174	0.0057	30	c.64 others(41): Show c.6429_*6430insGAAGAGTGAGGGTGGGCCTGGGAACCCCTG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4778		chr19	TogoVar
C2CD4C_chr19_400445_414147	400763	C C	TCCCAGGC others(23): Show TCCCAGGCCCACCCTCACTCTTCCAGGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0089 a0001c0001t0109g0089	1	313	0.0032	30	c.63 others(41): Show c.6333_*6334insACCCCTGGAAGAGTGAGGGTGGGCCTGGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4682		chr19	TogoVar
C2CD4C_chr19_400445_414147	404189	G G	GGGGGGAC others(23): Show GGGGGGACGGGTCCTGCCCTGAGGGGTCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA19088.hp1 NA18612.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0022 a0001c0002t0020 a0001c0002t0022	a0001c0002t0020g0139 a0001c0002t0022g0024 a0001c0002t0020g0139 a0001c0002t0022g0024	2	218	0.0092	30	c.29 others(41): Show c.2906_*2907insTCAGACCCCTCAGGGCAGGACCCGTCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1255		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201581549	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0016 a0013c0010t0001g0016	1	268	0.0037	30	c.639 others(45): Show c.639+545_639+546insGTATATATATATATATATATATATATATAT	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	5/15			chr2	TogoVar
C2orf68_chr2_85600254_85617066	85607811	G G	GATGGGAA others(23): Show GATGGGAACAAGTGCCTTGGAACTTCGAACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0072 a0001c0001t0024g0072	1	374	0.0027	30	c.11 others(41): Show c.1133_*1134insAGTTCGAAGTTCCAAGGCACTTGTTCCCAT	C2orf68	ENSG00000168887.11	transcript	ENST00000306336.6	protein_coding	4/4	1133		chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01934.hp1 others(19): Show HG00741.hp2 HG01109.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02080.hp2 HG02129.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG03209.hp2 HG03492.hp2 NA18965.hp2 NA18980.hp2 NA18986.hp2 NA18993.hp2 NA19004.hp2 NA19072.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0002t0002 a0002c0003t0002 a0002c0003t0008 a0003c0004t0007	a0001c0001t0003g0030 a0001c0001t0003g0159 a0001c0001t0003g0162 others(15): Show a0001c0001t0003g0030 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0210 a0001c0001t0006g0016 a0001c0001t0006g0204 a0001c0001t0010g0016 a0001c0001t0010g0183 a0001c0001t0019g0236 a0001c0002t0002g0088 a0002c0003t0002g0069 a0002c0003t0002g0244 a0002c0003t0008g0069 a0003c0004t0007g0190 a0003c0004t0007g0192 a0003c0004t0007g0197	22	84	0.2619	30	c.334 others(47): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT AT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97695736	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0088 a0010c0010t0001g0088	1	288	0.0035	30	c.404 others(47): Show c.404-3262_404-3261insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3_chr19_6672704_6725650	6689327	A A	ACCTATCT others(23): Show ACCTATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0344 a0001c0010t0001g0344	1	338	0.0030	30	c.348 others(49): Show c.3489+1301_3489+1302insGAGAGAGAGAGAGAGAGAGAGAGAGA TAGG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	27/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700219	T T	TATATATT others(23): Show TATATATTATATATGTAATATACAATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0001 a0001c0010t0001 a0001c0006t0001 a0001c0010t0001	a0001c0006t0001g0151 a0001c0010t0001g0339 a0001c0006t0001g0151 a0001c0010t0001g0339	2	358	0.0056	30	c.244 others(49): Show c.2440+1878_2440+1907dupTATATATTGTATATTACATATATAAT ATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700219	T T	TATATATT others(23): Show TATATATTGTATATGTAATATACAATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0067 a0001c0010t0001g0067	1	357	0.0028	30	c.244 others(49): Show c.2440+1907_2440+1908insTATATATTGTATATTACATATACAAT ATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700664	A A	ATTATATA others(23): Show ATTATATATGTAATATATAATATATGATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0239 a0001c0016t0001g0239	1	368	0.0027	30	c.244 others(49): Show c.2440+1462_2440+1463insCATATCATATATTATATATTACATAT ATAA	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3orf70_chr3_185071838_185158060	185091912	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0315 a0001c0001t0041g0315	1	307	0.0033	30	c.197 others(47): Show c.197-8379_197-8350dupATATATATATATATATATATATATATAT AT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C3orf70_chr3_185071838_185158060	185120033	A A	AAAAAAAA others(23): Show AAAAAAAAAAGAAAAAGAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01175.hp2 others(13): Show HG01167.hp2 HG01169.hp1 HG01175.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0001t0025 a0001c0001t0030 others(3): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0030 a0001c0001t0085 a0001c0001t0086 a0001c0005t0039	a0001c0001t0007g0008 a0001c0001t0007g0160 a0001c0001t0007g0161 others(12): Show a0001c0001t0007g0008 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0163 a0001c0001t0007g0312 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0025g0338 a0001c0001t0025g0339 a0001c0001t0030g0032 a0001c0001t0030g0033 a0001c0001t0085g0035 a0001c0001t0086g0034 a0001c0005t0039g0019	16	55	0.2909	30	c.196 others(49): Show c.196+32594_196+32595insCTTTCTTTTTTTTTCTTTTTCTTTTT TTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4BPA_chr1_207099233_207149972	207106441	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02630.hp1 others(1): Show HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0004t0001g0031	4	296	0.0135	30	c.-26 others(47): Show c.-26+2027_-26+2028insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	C4BPA	ENSG00000123838.11	transcript	ENST00000367070.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
C4orf17_chr4_99506021_99547303	99522197	T T	TAGAAGGT others(23): Show TAGAAGGTCTACTCCACTTGAATCCCAGACC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	384	0.0026	30	c.128 others(45): Show c.128-301_128-272dupGAAGGTCTACTCCACTTGAATCCCAGACCA	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02129.hp2 NA18612.hp1 others(4): Show HG00733.hp2 HG02129.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0002t0004	a0001c0001t0002g0073 a0001c0001t0006g0062 a0001c0001t0006g0099 others(4): Show a0001c0001t0002g0073 a0001c0001t0006g0062 a0001c0001t0006g0099 a0001c0001t0007g0236 a0001c0001t0010g0033 a0001c0001t0010g0324 a0002c0002t0004g0069	7	146	0.0479	30	c.-72 others(49): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA19012.hp2 NA19090.hp2 HG03831.hp2 NA19012.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0169 a0001c0001t0007g0145 a0001c0001t0007g0317 a0001c0001t0002g0169 a0001c0001t0007g0145 a0001c0001t0007g0317	3	175	0.0171	30	c.57 others(41): Show c.5736_*5737insTATATATATATATATATATATATATTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar

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