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
CNTNAP5_chr2_124020287_124926219	124600759	GAGAGAGA others(3): Show GAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0040 a0001c0002t0005g0045 a0001c0001t0005g0040 a0001c0002t0005g0045	2	64	0.0313	-10	c.175 others(29): Show c.1757-9024_1757-9015delGAAAGAGAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124619842	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	64	0.0156	-10	c.187 others(29): Show c.1876+9956_1876+9965delTATATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124674499	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02145.hp1 HG02257.hp1 others(10): Show HG00423.hp2 HG02145.hp1 HG02257.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG03471.hp1 HG03471.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0002c0004t0001 a0003c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0002t0001g0005 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0030 a0001c0002t0003g0056 a0001c0002t0010g0032 a0001c0002t0011g0029 a0001c0002t0012g0018 a0002c0004t0001g0001 a0003c0007t0001g0017	13	64	0.2031	-10	c.207 others(31): Show c.2077+26553_2077+26562delCTTTCTTTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	64	0.0156	-10	c.207 others(31): Show c.2078-44842_2078-44833delTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713233	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp2 NA19240.hp2 others(1): Show HG02897.hp1 HG02922.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0002g0023 a0001c0001t0007g0039 others(1): Show a0001c0001t0001g0011 a0001c0001t0002g0023 a0001c0001t0007g0039 a0001c0002t0001g0064	4	64	0.0625	-10	c.207 others(31): Show c.2078-33984_2078-33975delCTTTCTTTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124777775	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG01891.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0059 a0001c0002t0002g0031 a0001c0002t0001g0059 a0001c0002t0002g0031	2	64	0.0313	-10	c.275 others(29): Show c.2752+4798_2752+4807delGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124828735	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0051 a0001c0002t0019g0051	1	64	0.0156	-10	c.321 others(31): Show c.3217+30443_3217+30452delAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124872374	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG02717.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0019 a0001c0002t0008 a0001c0002t0019	a0001c0002t0008g0058 a0001c0002t0019g0051 a0001c0002t0008g0058 a0001c0002t0019g0051	2	64	0.0313	-10	c.343 others(29): Show c.3436+2645_3436+2654delTGTGTGTGTG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124885549	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 NA18906.hp2 HG02970.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001	a0001c0001t0004g0053 a0001c0001t0013g0041 a0001c0002t0001g0046 a0001c0001t0004g0053 a0001c0001t0013g0041 a0001c0002t0001g0046	3	64	0.0469	-10	c.343 others(31): Show c.3436+15818_3436+15827delCACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124886106	AACAAAGA others(3): Show AACAAAGAGAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG03225.hp2 HG02886.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0001 a0001c0002t0016	a0001c0001t0001g0002 a0001c0002t0001g0063 a0001c0002t0016g0055 a0001c0001t0001g0002 a0001c0002t0001g0063 a0001c0002t0016g0055	3	64	0.0469	-10	c.343 others(31): Show c.3436+16347_3436+16356delAAAGAGATAC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124897936	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02886.hp2 HG03098.hp1 others(2): Show HG01069.hp1 HG02886.hp2 HG03098.hp1 HG03139.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0009g0061 a0001c0002t0001g0003 others(2): Show a0001c0001t0001g0002 a0001c0001t0009g0061 a0001c0002t0001g0003 a0001c0002t0001g0063 a0004c0006t0001g0013	5	64	0.0781	-10	c.343 others(29): Show c.3437-4913_3437-4904delGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124904055	AAAAAAAA others(3): Show AAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0007 a0001c0002t0001g0016	2	64	0.0313	-10	c.365 others(27): Show c.3655+965_3655+974delCAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121070384	GATATATA others(3): Show GATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	330	0.0030	-10	c.-48 others(21): Show c.-4887_-4878delATATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4570		chr9	TogoVar
CNTRL_chr9_121069955_121182610	121070417	ATATATAT others(3): Show ATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0033 a0002c0006t0001g0033	1	330	0.0030	-10	c.-48 others(21): Show c.-4854_-4845delTATATATATG	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4537		chr9	TogoVar
COA1_chr7_43634257_43734523	43644777	GGCAGGCA others(3): Show GGCAGGCAGGC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	384	0.0026	-10	c.264 others(25): Show c.264+464_264+473delGCCTGCCTGC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43644799	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	384	0.0026	-10	c.264 others(25): Show c.264+442_264+451delCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43656820	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02148.hp1 HG02293.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 NA19084.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0002t0001g0366 a0001c0002t0001g0367	22	384	0.0573	-10	c.-38 others(27): Show c.-38-8178_-38-8169delCTTTTCTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43686293	CTGGCTTT others(3): Show CTGGCTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18985.hp1 HG02055.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0154 a0001c0001t0001g0057 a0001c0001t0001g0154	2	384	0.0052	-10	c.-38 others(29): Show c.-38-37651_-38-37642delAACAAAGCCA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691412	GAAGAAAG others(3): Show GAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 NA18522.hp1 others(1): Show HG02922.hp2 HG02976.hp2 NA18522.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0244 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0145 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0254	4	384	0.0104	-10	c.-39 others(29): Show c.-39+38007_-39+38016delTTTCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42801508	AAAATATA others(3): Show AAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-10	c.-28 others(21): Show c.-2837_-2828delATATATATTT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2805		chr17	TogoVar
COA3_chr17_42792625_42803704	42801539	ATATATAT others(3): Show ATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG02055.hp2 others(12): Show HG01175.hp2 HG01243.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03516.hp2 HG03834.hp1 NA18522.hp1 NA18975.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0003t0001g0006 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0003t0001g0006	15	310	0.0484	-10	c.-28 others(21): Show c.-2868_-2859delATTATATATA	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2836		chr17	TogoVar
COA4_chr11_73867667_73881846	73880687	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01975.hp1 HG02109.hp1 others(13): Show HG01106.hp1 HG01975.hp1 HG02109.hp1 HG02135.hp2 HG02615.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18967.hp2 NA18979.hp2 NA19079.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0003g0017	16	394	0.0406	-10	c.-39 others(21): Show c.-3957_-3948delTTTTTTTTTT	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		3842		chr11	TogoVar
COA6_chr1_234368456_234390080	234370412	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	406	0.0025	-10	c.-30 others(21): Show c.-3054_-3045delTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA6_chr1_234368456_234390080	234377059	CGAGAGAG others(3): Show CGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	406	0.0025	-10	c.372 others(27): Show c.372+2703_372+2712delGAGAGAGAGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA7_chr1_52679449_52703347	52682874	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	416	0.0024	-10	c.48 others(21): Show c.4836_*4845delAAAAAAAAAA	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding		1574		chr1	TogoVar
COA8_chr14_103557960_103595896	103568611	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	382	0.0026	-10	c.124 others(27): Show c.124-3010_124-3001delGTGTGTGTGT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103568621	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	382	0.0026	-10	c.124 others(27): Show c.124-2985_124-2976delTATATATATA	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103585879	CTTTTTTG others(3): Show CTTTTTTGTTG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	382	0.0026	-10	c.386 others(27): Show c.386-1385_386-1376delGTTTTTTGTT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103591956	TGAGGTCA others(3): Show TGAGGTCAGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	382	0.0026	-10	c.16 others(21): Show c.1671_*1680delGAGGTCAGGA	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding		1061		chr14	TogoVar
COBLL1_chr2_164675188_164846823	164683005	TACACACA others(3): Show TACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0025 a0008c0011t0025	a0008c0011t0025g0011 a0008c0011t0025g0012 a0008c0011t0025g0011 a0008c0011t0025g0012	2	212	0.0094	-10	c.29 others(21): Show c.2931_*2940delGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	14/14	2931		chr2	TogoVar
COBLL1_chr2_164675188_164846823	164725125	TATATATA others(3): Show TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03704.hp1 HG02055.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0056 a0001c0001t0033 a0001c0001t0056	a0001c0001t0033g0052 a0001c0001t0056g0032 a0001c0001t0033g0052 a0001c0001t0056g0032	2	212	0.0094	-10	c.662 others(27): Show c.662-2613_662-2604delTTATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp2 others(6): Show HG01069.hp2 HG01071.hp1 HG01496.hp2 HG02258.hp1 HG02717.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0003 a0001c0002 a0001c0012 a0002c0003	a0001c0002t0004 a0001c0012t0001 a0002c0003t0003 others(2): Show a0001c0002t0004 a0001c0012t0001 a0002c0003t0003 a0002c0003t0023 a0002c0003t0054	a0001c0002t0004g0098 a0001c0002t0004g0189 a0001c0012t0001g0014 others(5): Show a0001c0002t0004g0098 a0001c0002t0004g0189 a0001c0012t0001g0014 a0002c0003t0003g0073 a0002c0003t0003g0099 a0002c0003t0003g0104 a0002c0003t0023g0001 a0002c0003t0054g0169	9	212	0.0425	-10	c.42- others(27): Show c.42-45155_42-45146delGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805287	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03471.hp1 HG01074.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0103 a0002c0003t0003g0076 a0001c0001t0001g0103 a0002c0003t0003g0076	2	212	0.0094	-10	c.41+ others(27): Show c.41+35859_41+35868delGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805329	CTCTCTCT others(3): Show CTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0101 a0002c0003t0024g0101	1	212	0.0047	-10	c.41+ others(27): Show c.41+35817_41+35826delTAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805331	CTCTCTCT others(3): Show CTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0075 a0002c0003t0003g0075	1	212	0.0047	-10	c.41+ others(27): Show c.41+35815_41+35824delTATAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818288	GTATGTAT others(3): Show GTATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01261.hp1 HG01496.hp2 others(8): Show HG00735.hp1 HG01261.hp1 HG01496.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0032 a0010c0027	a0001c0001t0018 a0001c0002t0002 a0001c0002t0010 others(6): Show a0001c0001t0018 a0001c0002t0002 a0001c0002t0010 a0001c0002t0046 a0001c0002t0058 a0001c0002t0060 a0002c0003t0054 a0004c0032t0001 a0010c0027t0010	a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0002t0002g0165 others(8): Show a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0002t0002g0165 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 a0001c0002t0058g0164 a0001c0002t0060g0162 a0002c0003t0054g0169 a0004c0032t0001g0163 a0010c0027t0010g0166	11	212	0.0519	-10	c.41+ others(27): Show c.41+22858_41+22867delTGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51032788	CATGGAAT others(3): Show CATGGAATGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01258.hp2 HG01261.hp2 others(1): Show HG00099.hp1 HG01258.hp2 HG01261.hp2 HG06807.hp1	a0003 a0003	a0003c0001 a0003c0011 a0003c0001 a0003c0011	a0003c0001t0001 a0003c0011t0001 a0003c0001t0001 a0003c0011t0001	a0003c0001t0001g0025 a0003c0001t0001g0030 a0003c0001t0001g0113 others(1): Show a0003c0001t0001g0025 a0003c0001t0001g0030 a0003c0001t0001g0113 a0003c0011t0001g0049	4	230	0.0174	-10	c.140 others(29): Show c.1407-1889_1407-1880delCTCATTCCAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51041478	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 NA18906.hp2 HG02818.hp2 HG02896.hp1 NA18906.hp2	a0012 a0012	a0012c0021 a0012c0024 a0012c0021 a0012c0024	a0012c0021t0001 a0012c0024t0001 a0012c0024t0016 a0012c0021t0001 a0012c0024t0001 a0012c0024t0016	a0012c0021t0001g0063 a0012c0024t0001g0042 a0012c0024t0016g0229 a0012c0021t0001g0063 a0012c0024t0001g0042 a0012c0024t0016g0229	3	230	0.0130	-10	c.140 others(29): Show c.1406+1895_1406+1904delAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061950	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(39): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG02004.hp1 HG02155.hp2 HG02280.hp2 HG02683.hp1 HG03139.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18950.hp1 NA18951.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA19007.hp2 NA19010.hp1 NA19055.hp2 NA19066.hp1 NA19066.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(6): Show a0001 a0003 a0008 a0009 a0011 a0022 a0028 a0031 a0034	a0001c0004 a0003c0001 a0003c0011 others(8): Show a0001c0004 a0003c0001 a0003c0011 a0008c0013 a0008c0058 a0009c0012 a0011c0014 a0022c0047 a0028c0043 a0031c0041 a0034c0053	a0001c0004t0001 a0003c0001t0001 a0003c0001t0002 others(13): Show a0001c0004t0001 a0003c0001t0001 a0003c0001t0002 a0003c0001t0013 a0003c0011t0001 a0003c0011t0002 a0008c0013t0003 a0008c0013t0008 a0008c0013t0015 a0008c0058t0003 a0009c0012t0001 a0011c0014t0003 a0022c0047t0001 a0028c0043t0001 a0031c0041t0002 a0034c0053t0001	a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0197 others(39): Show a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0197 a0003c0001t0001g0009 a0003c0001t0001g0018 a0003c0001t0001g0025 a0003c0001t0001g0030 a0003c0001t0001g0034 a0003c0001t0001g0113 a0003c0001t0001g0118 a0003c0001t0001g0149 a0003c0001t0001g0199 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0210 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0220 a0003c0001t0001g0228 a0003c0001t0002g0054 a0003c0001t0002g0070 a0003c0001t0013g0186 a0003c0011t0001g0012 a0003c0011t0001g0049 a0003c0011t0001g0056 a0003c0011t0001g0068 a0003c0011t0001g0198 a0003c0011t0002g0069 a0008c0013t0003g0200 a0008c0013t0008g0110 a0008c0013t0015g0230 a0008c0058t0003g0021 a0009c0012t0001g0188 a0009c0012t0001g0189 a0009c0012t0001g0194 a0009c0012t0001g0206 a0009c0012t0001g0208 a0011c0014t0003g0162 a0022c0047t0001g0217 a0028c0043t0001g0201 a0031c0041t0002g0140 a0034c0053t0001g0095	42	230	0.1826	-10	c.109 others(31): Show c.1097-18268_1097-18259delGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51081508	AGCCTGAT others(3): Show AGCCTGATGCT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0017 a0004c0009t0001g0017	1	230	0.0044	-10	c.109 others(29): Show c.1096+3648_1096+3657delAGCATCAGGC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51108948	ACACACAC others(3): Show ACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03831.hp2 NA18964.hp1 others(3): Show HG01517.hp1 HG03831.hp2 NA18964.hp1 NA18981.hp2 NA18988.hp1 NA19003.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0004 a0002c0003 a0003c0001 others(1): Show a0001c0004 a0002c0003 a0003c0001 a0022c0047	a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 others(2): Show a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 a0003c0001t0001 a0022c0047t0001	a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 others(3): Show a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 a0003c0001t0001g0210 a0003c0001t0001g0228 a0022c0047t0001g0217	6	230	0.0261	-10	c.958 others(29): Show c.958-23654_958-23645delGGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51156698	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0005 a0010c0034t0005	a0010c0034t0005g0182 a0010c0034t0005g0182	1	230	0.0044	-10	c.784 others(29): Show c.784-20377_784-20368delTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51251504	TAGCTTAC others(3): Show TAGCTTACAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0005 a0010c0034t0005	a0010c0034t0005g0182 a0010c0034t0005g0182	1	230	0.0044	-10	c.42- others(27): Show c.42-31570_42-31561delTTTGTAAGCT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51284129	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0002 a0003c0040t0002	a0003c0040t0002g0082 a0003c0040t0002g0082	1	230	0.0044	-10	c.41+ others(27): Show c.41+32454_41+32463delTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51294321	TAAATAAA others(3): Show TAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG03710.hp2 others(3): Show HG01884.hp2 HG02015.hp2 HG03710.hp2 NA18612.hp2 NA18988.hp2 NA18994.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0010	a0001c0035 a0002c0007 a0004c0009 others(2): Show a0001c0035 a0002c0007 a0004c0009 a0007c0018 a0010c0030	a0001c0035t0002 a0002c0007t0001 a0004c0009t0001 others(2): Show a0001c0035t0002 a0002c0007t0001 a0004c0009t0001 a0007c0018t0003 a0010c0030t0005	a0001c0035t0002g0173 a0002c0007t0001g0172 a0002c0007t0001g0174 others(3): Show a0001c0035t0002g0173 a0002c0007t0001g0172 a0002c0007t0001g0174 a0004c0009t0001g0005 a0007c0018t0003g0171 a0010c0030t0005g0052	6	230	0.0261	-10	c.41+ others(27): Show c.41+22262_41+22271delTTATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51300140	CTGTTTTG others(3): Show CTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG01934.hp2 others(18): Show HG01261.hp2 HG01884.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18988.hp2 NA18994.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0024	a0001c0004 a0001c0015 a0001c0035 others(10): Show a0001c0004 a0001c0015 a0001c0035 a0002c0003 a0002c0007 a0003c0001 a0004c0009 a0004c0037 a0006c0029 a0007c0018 a0007c0020 a0010c0030 a0024c0066	a0001c0004t0006 a0001c0015t0001 a0001c0035t0002 others(10): Show a0001c0004t0006 a0001c0015t0001 a0001c0035t0002 a0002c0003t0001 a0002c0007t0001 a0003c0001t0001 a0004c0009t0001 a0004c0037t0001 a0006c0029t0003 a0007c0018t0003 a0007c0020t0001 a0010c0030t0005 a0024c0066t0003	a0001c0004t0006g0003 a0001c0015t0001g0169 a0001c0035t0002g0173 others(18): Show a0001c0004t0006g0003 a0001c0015t0001g0169 a0001c0035t0002g0173 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0007t0001g0172 a0002c0007t0001g0174 a0002c0007t0001g0176 a0002c0007t0001g0177 a0002c0007t0001g0178 a0002c0007t0001g0179 a0003c0001t0001g0113 a0004c0009t0001g0005 a0004c0037t0001g0175 a0006c0029t0003g0053 a0006c0029t0003g0170 a0007c0018t0003g0171 a0007c0020t0001g0168 a0010c0030t0005g0052 a0024c0066t0003g0051	21	230	0.0913	-10	c.41+ others(27): Show c.41+16443_41+16452delAAACAAAACA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51321669	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG00642.hp1 HG01255.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0002 a0003c0001t0001 a0003c0001t0002	a0003c0001t0001g0034 a0003c0001t0002g0054 a0003c0001t0001g0034 a0003c0001t0002g0054	2	230	0.0087	-10	c.-50 others(21): Show c.-5046_-5037delCAAAACAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding		4861		chr7	TogoVar
COG3_chr13_45459939_45541701	45460207	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp2 others(87): Show HG00099.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0011 others(5): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0002c0005 a0002c0016 a0006c0018 a0007c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0011t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0003 a0002c0016t0003 a0006c0018t0001 a0007c0017t0001	a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0076 others(86): Show a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0204 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0007g0305 a0001c0002t0009g0279 a0001c0011t0001g0246 a0002c0003t0002g0163 a0002c0005t0001g0313 a0002c0005t0003g0157 a0002c0016t0003g0156 a0006c0018t0001g0309 a0007c0017t0001g0285	90	342	0.2632	-10	c.-48 others(21): Show c.-4829_-4820delTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding		4731		chr13	TogoVar
COG3_chr13_45459939_45541701	45484574	TTGCTTAT others(3): Show TTGCTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(32): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0007 a0001c0002 a0002c0003 a0002c0007	a0001c0002t0001 a0002c0003t0002 a0002c0007t0002 a0001c0002t0001 a0002c0003t0002 a0002c0007t0002	a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 others(31): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 a0002c0003t0002g0202 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0003t0002g0240 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232	35	342	0.1023	-10	c.843 others(27): Show c.843+1221_843+1230delGCTTATTTAT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45500094	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00621.hp1 others(52): Show HG00280.hp2 HG00544.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01891.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp2 NA18966.hp2 NA18971.hp2 NA18984.hp1 NA18987.hp1 NA18992.hp1 NA19030.hp1 NA19043.hp1 NA19080.hp1 NA19084.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0002 a0001c0011 a0001c0013 others(5): Show a0001c0002 a0001c0011 a0001c0013 a0002c0003 a0002c0007 a0003c0006 a0006c0018 a0007c0017	a0001c0002t0001 a0001c0002t0007 a0001c0011t0001 others(6): Show a0001c0002t0001 a0001c0002t0007 a0001c0011t0001 a0001c0013t0004 a0002c0003t0002 a0002c0007t0002 a0003c0006t0004 a0006c0018t0001 a0007c0017t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0035 others(50): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0204 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0252 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0289 a0001c0002t0001g0292 a0001c0002t0001g0302 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0007g0305 a0001c0011t0001g0246 a0001c0013t0004g0194 a0002c0003t0002g0165 a0002c0003t0002g0170 a0002c0003t0002g0172 a0002c0003t0002g0188 a0002c0003t0002g0191 a0002c0003t0002g0207 a0002c0003t0002g0231 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232 a0003c0006t0004g0199 a0006c0018t0001g0309 a0007c0017t0001g0285	55	342	0.1608	-10	c.148 others(29): Show c.1489-3137_1489-3128delTATATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar

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