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
C1RL_chr12_7089554_7114214	7099225	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19240.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0056 a0001c0001t0013g0056	2	106	0.0189	20	c.691 others(35): Show c.691+441_691+460dupTTTTTTTTTTTTTTTTTTTT	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	5/5			chr12	TogoVar
C1S_chr12_7055718_7076032	7064030	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 NA19076.hp1 HG03579.hp2 NA19030.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0034 a0001c0010t0001g0063 a0001c0010t0001g0066 a0001c0001t0001g0034 a0001c0010t0001g0063 a0001c0010t0001g0066	3	359	0.0084	20	c.392 others(35): Show c.392-234_392-233insACACACACACACACACACAC	C1S	ENSG00000182326.17	transcript	ENST00000360817.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
C1orf100_chr1_244347635_244394663	244394244	T T	TTTTTTAA others(13): Show TTTTTTAAACTTTTTTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00673.hp1 others(14): Show HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01358.hp1 HG02056.hp1 HG02717.hp2 HG02922.hp2 HG03130.hp1 HG03688.hp2 HG04199.hp1 NA18967.hp1 NA18989.hp1 NA19000.hp1 NA19000.hp2 NA19057.hp2 NA19077.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0104 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0196 a0001c0001t0001g0235 a0001c0001t0001g0296 a0001c0001t0001g0317 a0001c0001t0001g0346 a0001c0001t0001g0371 a0001c0001t0001g0385 a0001c0001t0001g0423	17	450	0.0378	20	c.51 others(31): Show c.5175_*5176insTTTTTAAACTTTTTTCTGCC	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding		4582		chr1	TogoVar
C1orf105_chr1_172415685_172473829	172469593	C C	CAAATAAA others(13): Show CAAATAAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA19043.hp2 HG02622.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0128 a0002c0002t0001g0105 a0002c0002t0001g0128	2	313	0.0064	20	c.99 others(30): Show c.999_*1000insAAATAAAATAAAATAAAATA	C1orf105	ENSG00000180999.11	transcript	ENST00000367727.9	protein_coding		765		chr1	TogoVar
C1orf109_chr1_37676570_37695529	37679973	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	175	0.0057	20	c.31 others(31): Show c.3149_*3150insTTTTTTTTTTTTTTTTTTTT	C1orf109	ENSG00000116922.15	transcript	ENST00000486637.2	protein_coding		1596		chr1	TogoVar
C1orf127_chr1_10941475_10987076	10951745	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0105 a0005c0008t0004g0105	1	210	0.0048	20	c.110 others(39): Show c.1100-1932_1100-1931insATATATATATATATTTTTTT	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	10/12			chr1	TogoVar
C1orf127_chr1_10941475_10987076	10986123	G G	GCACACAC others(13): Show GCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG00735.hp2 others(33): Show HG00438.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01891.hp1 HG01952.hp1 HG02145.hp2 HG02257.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18946.hp2 NA19006.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0002c0002 a0003c0006 a0003c0014 a0004c0007 a0005c0008 a0006c0010 a0012c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0004t0001 a0001c0004t0009 a0001c0005t0001 a0001c0011t0001 a0001c0011t0003 a0002c0002t0001 a0003c0006t0004 a0003c0014t0004 a0004c0007t0005 a0005c0008t0004 a0006c0010t0005 a0012c0026t0004	a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0081 others(33): Show a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0149 a0001c0001t0001g0222 a0001c0001t0002g0107 a0001c0001t0003g0104 a0001c0001t0007g0087 a0001c0003t0001g0102 a0001c0003t0001g0364 a0001c0003t0006g0018 a0001c0003t0006g0365 a0001c0003t0008g0366 a0001c0004t0001g0086 a0001c0004t0009g0368 a0001c0005t0001g0367 a0001c0011t0001g0049 a0001c0011t0003g0113 a0002c0002t0001g0015 a0002c0002t0001g0079 a0002c0002t0001g0096 a0002c0002t0001g0108 a0002c0002t0001g0309 a0003c0006t0004g0373 a0003c0014t0004g0097 a0004c0007t0005g0024 a0005c0008t0004g0013 a0006c0010t0005g0112 a0012c0026t0004g0117	36	353	0.1020	20	c.-40 others(31): Show c.-4087_-4086insTGTGTGTGTGTGTGTGTGTG	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding		4048		chr1	TogoVar
C1orf198_chr1_230832119_230873521	230836212	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG03942.hp2 NA18942.hp1 others(6): Show HG00438.hp1 HG03942.hp2 NA18942.hp1 NA18944.hp1 NA18953.hp2 NA18969.hp2 NA18997.hp1 NA19010.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0001t0005 a0001c0001t0019 a0001c0001t0020	a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0223 others(6): Show a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0019g0222 a0001c0001t0020g0089	9	387	0.0233	20	c.36 others(31): Show c.3639_*3640insGTTTTTTTTTTTTTTTTTTT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding		906		chr1	TogoVar
C1orf198_chr1_230832119_230873521	230836212	A A	AAAAAAAA others(13): Show AAAAAAAAAACAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	379	0.0026	20	c.36 others(31): Show c.3639_*3640insGTTTTTTTTTGTTTTTTTTT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding		906		chr1	TogoVar
C1orf202_chr1_244724701_244736015	244733250	G G	GCAGCCCA others(13): Show GCAGCCCACCCCACGCGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0000 a0004c0007t0011g0000	2	412	0.0049	20	c.-23 others(31): Show c.-2328_-2327insTCTGCGCGTGGGGTGGGCTG	C1orf202	ENSG00000284188.3	transcript	ENST00000640271.3	protein_coding		2236		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184386789	C C	CCACACAC others(13): Show CCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	37	0.0270	20	c.-70 others(29): Show c.-704_-703insCACACACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		239		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559505	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0172 a0001c0001t0043g0172	1	129	0.0078	20	c.190 others(39): Show c.190-31202_190-31183dupTCCTTCCTTCCTTCCTTCCT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559513	T T	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0097 a0001c0001t0034g0097	1	220	0.0045	20	c.190 others(39): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184630308	T T	TCACACAC others(13): Show TCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0210 a0001c0001t0007g0210	1	3	0.3333	20	c.10 others(33): Show c.10752_*10753insCACACACACACACACACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		1290		chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284002	C C	CTTTATTA others(13): Show CTTTATTATTATTATTATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG06807.hp2 HG02486.hp2 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	3	389	0.0077	20	c.31 others(31): Show c.3171_*3172insTTTATTATTATTATTATTAT	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3087		chr1	TogoVar
C20orf203_chr20_32626625_32678941	32661611	T T	TGAGCAGG others(13): Show TGAGCAGGAATTTGTCTGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0171 a0002c0004t0015g0171	1	358	0.0028	20	c.-26 others(39): Show c.-263-9650_-263-9631dupTCCCAGACAAATTCCTGCTC	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01361.hp2 HG02027.hp2 others(3): Show HG00733.hp2 HG01361.hp2 HG02027.hp2 HG02257.hp2 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0024 others(1): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0024 a0001c0001t0047	a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0003g0293 others(3): Show a0001c0001t0003g0274 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0019g0176 a0001c0001t0024g0276 a0001c0001t0047g0200	6	128	0.0469	20	c.-26 others(39): Show c.-264+6815_-264+6834dupTATATATATATATATATATA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf203_chr20_32626625_32678941	32666797	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	123	0.0081	20	c.-26 others(39): Show c.-264+6834_-264+6835insTATATATATATATATATAAA	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding	1/5			chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042771	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02622.hp2 others(7): Show HG01167.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02976.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0002g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017	10	386	0.0259	20	c.40 others(31): Show c.4012_*4013insGGGGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3771		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042803	G G	GGACGGGG others(13): Show GGACGGGGCGGGGTCGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03471.hp2 NA18906.hp1 HG02895.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	390	0.0077	20	c.40 others(31): Show c.4044_*4045insGACGGGGCGGGGTCGTGGGA	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3803		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042833	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	20	c.40 others(31): Show c.4074_*4075insGGGGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3833		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042873	G G	GCGGGGTC others(13): Show GCGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01255.hp2 others(1): Show HG01106.hp2 HG01243.hp1 HG01255.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0002g0005	4	372	0.0108	20	c.41 others(31): Show c.4114_*4115insCGGGGTCGTGGGGGACGGGA	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3873		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042894	G G	GCGGGGTC others(13): Show GCGGGGTCGTGGGGGACGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	20	c.41 others(31): Show c.4135_*4136insCGGGGTCGTGGGGGACGGGA	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3894		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042917	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03516.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	2	373	0.0054	20	c.41 others(31): Show c.4158_*4159insGGGGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3917		chr20	TogoVar
C20orf204_chr20_64031182_64044001	64042958	G G	GGGGGTCG others(13): Show GGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02976.hp1 HG03453.hp2 others(2): Show HG01167.hp1 HG02976.hp1 HG03453.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	5	390	0.0128	20	c.41 others(31): Show c.4199_*4200insGGGGTCGTGGGGGACGGGGC	C20orf204	ENSG00000196421.9	transcript	ENST00000636176.2	protein_coding		3958		chr20	TogoVar
C20orf96_chr20_265863_295750	273903	A A	AAGGAAGG others(13): Show AAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18962.hp2 NA18995.hp1 HG02145.hp1 NA18962.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 a0001c0001 a0002c0002 a0002c0012	a0001c0001t0001 a0002c0002t0001 a0002c0012t0001 a0001c0001t0001 a0002c0002t0001 a0002c0012t0001	a0001c0001t0001g0225 a0002c0002t0001g0175 a0002c0012t0001g0113 a0001c0001t0001g0225 a0002c0002t0001g0175 a0002c0012t0001g0113	3	223	0.0135	20	c.103 others(39): Show c.1031+2064_1031+2065insCCCTCCCTCCCTCCCTTCCT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	10/10			chr20	TogoVar
C20orf96_chr20_265863_295750	273903	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02970.hp1 HG02976.hp2 HG00738.hp1 HG02970.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0173 a0002c0002t0001g0243 a0002c0002t0001g0049 a0002c0002t0001g0173 a0002c0002t0001g0243	3	223	0.0135	20	c.103 others(39): Show c.1031+2045_1031+2064dupCCCTCCCTCCCTCCCTCCCT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	10/10			chr20	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(13): Show CGGAGGGAGGGCGGGACGGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	322	0.0031	20	c.465 others(35): Show c.465+222_465+241dupCTCCGTCCCGCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279082	C C	CGGAGGGC others(13): Show CGGAGGGCGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 NA18906.hp1 HG02280.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0237 a0001c0001t0005g0021 a0001c0001t0007g0038 a0001c0001t0001g0237 a0001c0001t0005g0021 a0001c0001t0007g0038	3	351	0.0085	20	c.465 others(33): Show c.465+89_465+90insCTCCCTCCCTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00597.hp2 others(29): Show HG00140.hp1 HG00423.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp2 HG02040.hp1 HG02135.hp1 HG02257.hp2 HG02922.hp2 HG03490.hp2 HG03704.hp2 NA18949.hp2 NA18954.hp1 NA18962.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0012 a0012c0014 a0001c0001 a0001c0012 a0012c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0012t0001 a0012c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0283 a0001c0001t0001g0287 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0011g0048 a0001c0012t0001g0275 a0012c0014t0001g0181	32	202	0.1584	20	c.35 others(31): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46303745	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	295	0.0034	20	c.722 others(37): Show c.722-1170_722-1169insAAAAAAAAAATATATATATA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C21orf58_chr21_46296130_46328870	46311982	T T	TCCACCCA others(13): Show TCCACCCATCCACCCATCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp1 HG01981.hp2 others(7): Show HG00099.hp2 HG01361.hp1 HG01981.hp2 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG03239.hp2 HG03688.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0080 a0001c0001t0003g0094 others(4): Show a0001c0001t0003g0006 a0001c0001t0003g0080 a0001c0001t0003g0094 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296	10	376	0.0266	20	c.610 others(35): Show c.610-435_610-416dupGTGGATGGGTGGATGGGTGG	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	5/7			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809275	C C	CCCTCCCT others(13): Show CCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01255.hp1 others(7): Show HG00408.hp1 HG00639.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG02135.hp1 HG02293.hp1 HG03927.hp2 NA18952.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0007	a0001c0001t0001g0089 a0001c0001t0001g0159 a0001c0001t0001g0163 others(7): Show a0001c0001t0001g0089 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0245 a0001c0001t0003g0087 a0001c0001t0004g0174 a0001c0001t0005g0088 a0001c0003t0007g0277	10	218	0.0459	20	c.-14 others(39): Show c.-140+1298_-140+1299insAAAGAAAGAAAGGAGGGAGG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809275	C C	CCCTCCTT others(13): Show CCCTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0146 a0003c0004t0018g0146	1	209	0.0048	20	c.-14 others(39): Show c.-140+1298_-140+1299insAAAGAAAGGAAGGAAGGAGG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809279	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	80	0.0125	20	c.-14 others(39): Show c.-140+1294_-140+1295insAAAGAAAGGAAGAAAGAAAG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf62_chr21_32785673_32818703	32809279	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0066 a0001c0002t0015g0066	1	80	0.0125	20	c.-14 others(39): Show c.-140+1275_-140+1294dupAAAGAAAGAAAGAAAGAAAG	C21orf62	ENSG00000205929.11	transcript	ENST00000479548.2	protein_coding	2/3			chr21	TogoVar
C21orf91_chr21_17783974_17824356	17789253	T T	TAACACAC others(13): Show TAACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0038 a0001c0001t0028g0038	2	50	0.0400	20	c.41 others(31): Show c.4161_*4162insTGTGTGTGTGTGTGTGTGTT	C21orf91	ENSG00000154642.11	transcript	ENST00000284881.9	protein_coding	5/5	4161		chr21	TogoVar
C2CD2_chr21_41880112_41959018	41908243	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG02109.hp2 others(5): Show HG00621.hp1 HG01074.hp1 HG02109.hp2 HG02258.hp1 HG03516.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0052 a0001c0003t0001 a0001c0003t0005	a0001c0001t0002g0133 a0001c0001t0002g0316 a0001c0001t0004g0198 others(5): Show a0001c0001t0002g0133 a0001c0001t0002g0316 a0001c0001t0004g0198 a0001c0001t0004g0288 a0001c0001t0005g0051 a0001c0001t0052g0394 a0001c0003t0001g0349 a0001c0003t0005g0263	8	121	0.0661	20	c.101 others(37): Show c.1019-460_1019-459insCACACACACACACACACACA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	8/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(13): Show TTCTCTCCCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0041 a0008c0043t0041	a0008c0043t0041g0012 a0008c0043t0041g0012	1	239	0.0042	20	c.280 others(37): Show c.280-4868_280-4867insGAGAGAGAGAGAGGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0061 a0001c0003t0005g0061	1	239	0.0042	20	c.280 others(37): Show c.280-4887_280-4868dupGAGAGAGAGAGAGAGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp1 HG03041.hp2 others(2): Show HG02258.hp2 HG02976.hp1 HG03041.hp2 HG03516.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0021 a0002c0008 a0003c0017 others(2): Show a0001c0021 a0002c0008 a0003c0017 a0003c0022 a0003c0029	a0001c0021t0005 a0002c0008t0005 a0003c0017t0005 others(2): Show a0001c0021t0005 a0002c0008t0005 a0003c0017t0005 a0003c0022t0042 a0003c0029t0004	a0001c0021t0005g0235 a0002c0008t0005g0260 a0003c0017t0005g0238 others(2): Show a0001c0021t0005g0235 a0002c0008t0005g0260 a0003c0017t0005g0238 a0003c0022t0042g0236 a0003c0029t0004g0237	5	120	0.0417	20	c.280 others(37): Show c.280-4893_280-4892insGGAGGGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00738.hp1 others(9): Show HG00099.hp1 HG00597.hp1 HG00738.hp1 HG01361.hp1 HG01891.hp1 HG01981.hp2 HG02257.hp1 HG02451.hp1 HG02698.hp2 HG03195.hp2 NA18906.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011	a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0004t0005 a0001c0005t0008 a0001c0011t0010	a0001c0001t0003g0177 a0001c0001t0007g0175 a0001c0002t0001g0176 others(9): Show a0001c0001t0003g0177 a0001c0001t0007g0175 a0001c0002t0001g0176 a0001c0002t0003g0299 a0001c0002t0005g0247 a0001c0002t0005g0248 a0001c0003t0005g0246 a0001c0003t0006g0174 a0001c0003t0007g0370 a0001c0004t0005g0390 a0001c0005t0008g0307 a0001c0011t0010g0245	12	127	0.0945	20	c.280 others(37): Show c.280-4893_280-4892insGGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74107322	T T	TCTCACAC others(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18984.hp2 NA18999.hp2 others(2): Show HG04228.hp2 NA18984.hp2 NA18999.hp2 NA19003.hp2 NA19043.hp1	a0010 a0033 a0010 a0033	a0010c0010 a0033c0035 a0010c0010 a0033c0035	a0010c0010t0001 a0033c0035t0001 a0010c0010t0001 a0033c0035t0001	a0010c0010t0001g0302 a0010c0010t0001g0306 a0010c0010t0001g0307 others(2): Show a0010c0010t0001g0302 a0010c0010t0001g0306 a0010c0010t0001g0307 a0010c0010t0001g0308 a0033c0035t0001g0228	5	212	0.0236	20	c.196 others(37): Show c.1963-830_1963-829insTGTGTGTGTGTGTGTGTGAG	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	12/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74110082	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0005 a0007c0026t0001g0005	1	217	0.0046	20	c.184 others(37): Show c.1844-950_1844-931dupATTTATTTATTTATTTATTT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	11/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74116836	A A	ATATATAC others(13): Show ATATATACACGTGTATATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0024 a0024	a0024c0024 a0024c0024	a0024c0024t0001 a0024c0024t0001	a0024c0024t0001g0203 a0024c0024t0001g0203	1	316	0.0032	20	c.152 others(39): Show c.1520+1372_1520+1391dupCACATATACACGTGTATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74116917	T T	TACATATA others(13): Show TACATATACACGTGTATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0130 a0016c0023t0001g0130	1	291	0.0034	20	c.152 others(39): Show c.1520+1291_1520+1310dupGTATATACACGTGTATATGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117361	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp1 others(5): Show HG02055.hp2 HG02258.hp1 HG02559.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG06807.hp2 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0001 a0004c0004t0001 a0002c0003t0001 a0004c0004t0001	a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 others(5): Show a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0197 a0002c0003t0001g0200 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0044	8	27	0.2963	20	c.152 others(37): Show c.1520+847_1520+866dupATATATATATATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74146747	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp2 others(8): Show HG00140.hp2 HG00639.hp2 HG00733.hp2 HG01074.hp1 HG01515.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG03834.hp2 NA18950.hp2 NA20805.hp1	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0020	a0002c0003 a0002c0005 a0008c0007 others(2): Show a0002c0003 a0002c0005 a0008c0007 a0009c0011 a0020c0033	a0002c0003t0001 a0002c0003t0005 a0002c0005t0001 others(3): Show a0002c0003t0001 a0002c0003t0005 a0002c0005t0001 a0008c0007t0001 a0009c0011t0001 a0020c0033t0001	a0002c0003t0001g0197 a0002c0003t0001g0204 a0002c0003t0001g0208 others(8): Show a0002c0003t0001g0197 a0002c0003t0001g0204 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0214 a0002c0003t0005g0080 a0002c0005t0001g0008 a0008c0007t0001g0177 a0008c0007t0001g0221 a0009c0011t0001g0079 a0020c0033t0001g0178	11	97	0.1134	20	c.484 others(37): Show c.484-6920_484-6919insATGTGTGTGTGTGTGTGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74151305	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0316 a0007c0009t0002g0316	1	277	0.0036	20	c.483 others(39): Show c.483+10074_483+10093dupTAAATAAATAAATAAATAAA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	3/32			chr11	TogoVar
C2CD6_chr2_201482421_201624178	201581433	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0265 a0021c0037t0001g0265	1	118	0.0085	20	c.639 others(35): Show c.639+642_639+661dupATATATATATATATATATAT	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	5/15			chr2	TogoVar

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