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
COL4A2_chr13_110302284_110518209	110385792	T T	TGCGTGGA others(89): Show TGCGTGGATAGACCGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0116 a0003c0116	a0003c0116t0022 a0003c0116t0022	a0003c0116t0022g0367 a0003c0116t0022g0367	1	363	0.0028	96	c.180 others(115): Show c.180+28241_180+28242insCGTGGATAGACCGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGCG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385849	A A	AGGCCGTG others(89): Show AGGCCGTGGTTACAGTGTGTCGATGGGCCGTGGTTACAGCGTGTGGATAG GCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAGCGTGTGGATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0117 a0003c0117	a0003c0117t0006 a0003c0117t0006	a0003c0117t0006g0023 a0003c0117t0006g0023	1	242	0.0041	96	c.180 others(115): Show c.180+28307_180+28308insACAGTGTGTCGATGGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTTACAG CGTGTGGATGGGCCGTGGTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385941	G G	GGATAGGC others(89): Show GGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCATGTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0097 a0002c0097	a0002c0097t0015 a0002c0097t0015	a0002c0097t0015g0260 a0002c0097t0015g0260	1	291	0.0034	96	c.180 others(115): Show c.180+28392_180+28393insAGGCCGTGGTTACAGCGTGTGGATAG GCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGC CGTGGTTACAGCATGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110386017	G G	GGGCCGTG others(89): Show GGGCCGTGGTTACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGG GCCGTGGTTACAGTGTGTCGATGGGCCGTGGTTACAGTGTGTGGATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0038 a0003c0007t0038	a0003c0007t0038g0019 a0003c0007t0038g0019	1	361	0.0028	96	c.180 others(115): Show c.180+28479_180+28480insCGTGTGGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTTACAGTGTGTCGATGGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134710597	C C	CATTTGTT others(89): Show CATTTGTTGGGTGCAGTGGTGGGGGAGGAGCCCCCGTCTGTTGGGTGCAG TGGTGGGGAAGGGGCCCCATTTAGTGCAGTGGTGGGGGAGGAGCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	270	0.0037	96	c.654 others(113): Show c.654+9291_654+9292insAGCCCCCGTCTGTTGGGTGCAGTGGTGG GGAAGGGGCCCCATTTAGTGCAGTGGTGGGGGAGGAGCCCTATTTGTTGG GTGCAGTGGTGGGGGAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134710762	C C	CTGTTGGG others(89): Show CTGTTGGGTGCAGTGGTGGGGGAGGAGCCCCCGTCTGTTGGGTGCAGTGG TGGGGAAGGGGCCCCATTTAGTACAGTGGTGGGGGAGGAGCCCTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03471.hp2 HG01884.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0026 a0001c0007 a0001c0026	a0001c0007t0006 a0001c0026t0006 a0001c0026t0041 a0001c0007t0006 a0001c0026t0006 a0001c0026t0041	a0001c0007t0006g0002 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0007t0006g0002 a0001c0026t0006g0101 a0001c0026t0041g0036	3	267	0.0112	96	c.654 others(113): Show c.654+9432_654+9433insTGGGTGCAGTGGTGGGGGAGGAGCCCCC GTCTGTTGGGTGCAGTGGTGGGGAAGGGGCCCCATTTAGTACAGTGGTGG GGGAGGAGCCCTATTTGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134710762	C C	CTGTTGGG others(89): Show CTGTTGGGTGCAGTGGTGGGGGAGGAGCCCCCGTCTGTTGGGTGCAGTGG TGGGGAAGGGGCCCCATTTAGTGCAGTGGTGGGGGAGGAGCCCTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG02486.hp2 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0006 a0001c0007t0015 a0001c0005t0006 a0001c0007t0015	a0001c0005t0006g0039 a0001c0007t0015g0200 a0001c0005t0006g0039 a0001c0007t0015g0200	2	266	0.0075	96	c.654 others(113): Show c.654+9432_654+9433insTGGGTGCAGTGGTGGGGGAGGAGCCCCC GTCTGTTGGGTGCAGTGGTGGGGAAGGGGCCCCATTTAGTGCAGTGGTGG GGGAGGAGCCCTATTTGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45987906	C C	CGGGGTCC others(89): Show CGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGG GGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0086 a0001c0009t0002g0086	1	122	0.0082	96	c.804 others(111): Show c.804+279_804+280insGTCCAGATGGAGGGGACGGCGGGGGTCCAG ATGGAGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGGTCCAGAT GGAGGGGACGGCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGGTGA others(89): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0310 a0003c0017t0002g0310	1	316	0.0032	96	c.49 others(107): Show c.4964_*4965insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGTTTA others(89): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0239 a0003c0018t0003g0239	1	316	0.0032	96	c.49 others(107): Show c.4964_*4965insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134497	G G	GAGGGTCA others(89): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	344	0.0029	96	c.50 others(107): Show c.5006_*5007insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4697		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(89): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18965.hp2 NA18986.hp2 HG02074.hp1 NA18965.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0280 a0001c0002t0002g0316 a0001c0002t0002g0001 a0001c0002t0002g0280 a0001c0002t0002g0316	3	116	0.0259	96	c.52 others(107): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGGTGA others(89): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0002 a0005c0065t0002	a0005c0065t0002g0310 a0005c0065t0002g0310	1	309	0.0032	96	c.19 others(107): Show c.1903_*1904insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134455	C C	CAGGTTTA others(89): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0239 a0003c0032t0001g0239	1	309	0.0032	96	c.19 others(107): Show c.1903_*1904insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1608		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134497	G G	GAGGGTCA others(89): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	336	0.0030	96	c.19 others(107): Show c.1945_*1946insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTG AGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1650		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134695	T T	TAGGGTCA others(89): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18965.hp2 NA18986.hp2 HG02074.hp1 NA18965.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0278 a0001c0002t0002g0315 a0001c0002t0002g0001 a0001c0002t0002g0278 a0001c0002t0002g0315	3	119	0.0252	96	c.21 others(107): Show c.2143_*2144insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1848		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(89): Show AGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0135 a0003c0007t0001g0135	1	350	0.0029	96	c.630 others(109): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGGAGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(89): Show AGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0004 a0002c0014t0004	a0002c0014t0004g0092 a0002c0014t0004g0092	1	350	0.0029	96	c.630 others(109): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825064	A A	AGGCTGGG others(89): Show AGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01981.hp1 HG02258.hp2 others(13): Show HG00609.hp1 HG01981.hp1 HG02258.hp2 HG02451.hp2 HG03834.hp1 HG04228.hp1 NA18944.hp2 NA18957.hp1 NA18960.hp1 NA18966.hp2 NA18975.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19060.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0002c0006t0001 a0002c0006t0006	a0001c0001t0001g0003 a0001c0001t0001g0168 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0168 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0238 a0001c0002t0001g0261 a0001c0004t0002g0260 a0002c0006t0001g0328 a0002c0006t0006g0332	16	365	0.0438	96	c.630 others(111): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(89): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0141 a0002c0006t0001g0141	1	348	0.0029	96	c.630 others(111): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(89): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGGGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	235	0.0043	96	c.630 others(111): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(89): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp2 NA18942.hp2 others(3): Show HG00544.hp2 HG02074.hp2 NA18942.hp2 NA18959.hp2 NA18980.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0002t0001g0198 a0001c0002t0001g0199 others(2): Show a0001c0001t0001g0026 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201	6	240	0.0250	96	c.630 others(111): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC12_chr18_311737_505701	312609	T T	TGGGGAGC others(89): Show TGGGGAGCTGTGAAGAATGGAGCCAGTAATTAAATCCACTGAAGTCTCCA CAGGAGGGCAAGGTGGACAATCTGTCCCATAGGAGGGGGATTCATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0201 a0003c0002t0201	a0003c0002t0201g0112 a0003c0002t0201g0112	1	163	0.0061	96	c.74 others(107): Show c.7435_*7436insTCATGAATCCCCCTCCTATGGGACAGATTGTCCA CCTTGCCCTCCTGTGGAGACTTCAGTGGATTTAATTACTGGCTCCATTCT TCACAGCTCCCC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4127		chr18	TogoVar
COLEC12_chr18_311737_505701	312609	T T	TGGGGAGC others(89): Show TGGGGAGCTGTGAAGAATGGAGCCAGTAATTAAATTCACTGAAGTCTCCA CAGGAGGGCAAGGTGGACAATCTGTCCCATAGGAGGGGGATTCATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(198): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012	a0001c0003 a0001c0004 a0001c0005 others(13): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0018 a0001c0023 a0002c0001 a0002c0007 a0002c0012 a0003c0002 a0004c0006 a0005c0009 a0006c0014 a0006c0019 a0009c0026 a0012c0016	a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 others(127): Show a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0026 a0001c0003t0029 a0001c0003t0031 a0001c0003t0038 a0001c0003t0059 a0001c0003t0069 a0001c0003t0074 a0001c0003t0077 a0001c0003t0083 a0001c0003t0084 a0001c0003t0085 a0001c0003t0088 a0001c0003t0091 a0001c0003t0101 a0001c0003t0102 a0001c0003t0117 a0001c0003t0134 a0001c0003t0140 a0001c0003t0159 a0001c0004t0005 a0001c0004t0008 a0001c0004t0016 a0001c0004t0038 a0001c0004t0040 a0001c0004t0061 a0001c0004t0079 a0001c0004t0110 a0001c0004t0124 a0001c0004t0126 a0001c0004t0183 a0001c0004t0186 a0001c0004t0203 a0001c0005t0002 a0001c0005t0009 a0001c0005t0014 a0001c0005t0041 a0001c0005t0056 a0001c0005t0072 a0001c0005t0076 a0001c0005t0178 a0001c0008t0018 a0001c0008t0100 a0001c0018t0112 a0001c0023t0122 a0002c0001t0002 a0002c0001t0003 a0002c0001t0009 a0002c0001t0013 a0002c0001t0023 a0002c0001t0039 a0002c0001t0045 a0002c0001t0052 a0002c0001t0055 a0002c0001t0065 a0002c0001t0090 a0002c0001t0092 a0002c0001t0103 a0002c0001t0111 a0002c0001t0121 a0002c0001t0125 a0002c0001t0129 a0002c0001t0133 a0002c0001t0148 a0002c0001t0155 a0002c0001t0171 a0002c0001t0176 a0002c0001t0180 a0002c0001t0182 a0002c0001t0194 a0002c0001t0199 a0002c0001t0206 a0002c0007t0024 a0002c0007t0026 a0002c0007t0127 a0002c0007t0151 a0002c0007t0190 a0002c0012t0115 a0002c0012t0116 a0003c0002t0002 a0003c0002t0003 a0003c0002t0008 a0003c0002t0021 a0003c0002t0025 a0003c0002t0043 a0003c0002t0044 a0003c0002t0057 a0003c0002t0063 a0003c0002t0066 a0003c0002t0068 a0003c0002t0078 a0003c0002t0080 a0003c0002t0081 a0003c0002t0086 a0003c0002t0094 a0003c0002t0104 a0003c0002t0106 a0003c0002t0107 a0003c0002t0131 a0003c0002t0132 a0003c0002t0135 a0003c0002t0137 a0003c0002t0141 a0003c0002t0142 a0003c0002t0143 a0003c0002t0145 a0003c0002t0149 a0003c0002t0152 a0003c0002t0157 a0003c0002t0158 a0003c0002t0162 a0003c0002t0170 a0003c0002t0179 a0003c0002t0202 a0004c0006t0045 a0004c0006t0153 a0004c0006t0154 a0004c0006t0156 a0004c0006t0198 a0005c0009t0032 a0006c0014t0105 a0006c0019t0119 a0009c0026t0007 a0012c0016t0075	a0001c0003t0002g0219 a0001c0003t0003g0042 a0001c0003t0003g0068 others(196): Show a0001c0003t0002g0219 a0001c0003t0003g0042 a0001c0003t0003g0068 a0001c0003t0003g0074 a0001c0003t0003g0098 a0001c0003t0003g0125 a0001c0003t0003g0169 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0252 a0001c0003t0003g0262 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0291 a0001c0003t0005g0045 a0001c0003t0005g0047 a0001c0003t0005g0168 a0001c0003t0005g0328 a0001c0003t0007g0019 a0001c0003t0007g0234 a0001c0003t0007g0236 a0001c0003t0007g0273 a0001c0003t0010g0003 a0001c0003t0010g0178 a0001c0003t0010g0233 a0001c0003t0011g0147 a0001c0003t0011g0280 a0001c0003t0014g0048 a0001c0003t0014g0327 a0001c0003t0026g0092 a0001c0003t0029g0198 a0001c0003t0031g0289 a0001c0003t0038g0016 a0001c0003t0059g0005 a0001c0003t0069g0292 a0001c0003t0074g0058 a0001c0003t0077g0096 a0001c0003t0083g0053 a0001c0003t0084g0159 a0001c0003t0085g0154 a0001c0003t0088g0099 a0001c0003t0091g0216 a0001c0003t0101g0114 a0001c0003t0102g0156 a0001c0003t0117g0254 a0001c0003t0134g0286 a0001c0003t0140g0277 a0001c0003t0159g0181 a0001c0004t0005g0015 a0001c0004t0005g0102 a0001c0004t0005g0138 a0001c0004t0005g0221 a0001c0004t0008g0017 a0001c0004t0016g0093 a0001c0004t0016g0267 a0001c0004t0016g0314 a0001c0004t0038g0323 a0001c0004t0040g0158 a0001c0004t0040g0320 a0001c0004t0061g0006 a0001c0004t0079g0011 a0001c0004t0110g0208 a0001c0004t0124g0247 a0001c0004t0126g0091 a0001c0004t0183g0150 a0001c0004t0186g0284 a0001c0004t0203g0271 a0001c0005t0002g0223 a0001c0005t0009g0025 a0001c0005t0014g0142 a0001c0005t0041g0283 a0001c0005t0041g0315 a0001c0005t0056g0353 a0001c0005t0056g0356 a0001c0005t0072g0202 a0001c0005t0076g0148 a0001c0005t0178g0010 a0001c0008t0018g0297 a0001c0008t0018g0349 a0001c0008t0018g0350 a0001c0008t0100g0316 a0001c0018t0112g0072 a0001c0023t0122g0087 a0002c0001t0002g0062 a0002c0001t0003g0204 a0002c0001t0003g0229 a0002c0001t0009g0149 a0002c0001t0009g0182 a0002c0001t0009g0205 a0002c0001t0009g0310 a0002c0001t0013g0160 a0002c0001t0013g0161 a0002c0001t0013g0241 a0002c0001t0023g0002 a0002c0001t0023g0083 a0002c0001t0039g0265 a0002c0001t0039g0282 a0002c0001t0045g0151 a0002c0001t0052g0018 a0002c0001t0052g0036 a0002c0001t0055g0049 a0002c0001t0055g0050 a0002c0001t0065g0116 a0002c0001t0090g0113 a0002c0001t0092g0065 a0002c0001t0103g0217 a0002c0001t0111g0177 a0002c0001t0121g0070 a0002c0001t0125g0164 a0002c0001t0129g0317 a0002c0001t0133g0293 a0002c0001t0148g0296 a0002c0001t0155g0272 a0002c0001t0171g0139 a0002c0001t0176g0013 a0002c0001t0180g0345 a0002c0001t0182g0166 a0002c0001t0194g0322 a0002c0001t0199g0073 a0002c0001t0206g0069 a0002c0007t0024g0152 a0002c0007t0024g0162 a0002c0007t0026g0027 a0002c0007t0127g0352 a0002c0007t0151g0029 a0002c0007t0190g0266 a0002c0012t0115g0326 a0002c0012t0116g0174 a0003c0002t0002g0044 a0003c0002t0002g0059 a0003c0002t0002g0075 a0003c0002t0002g0076 a0003c0002t0002g0086 a0003c0002t0002g0090 a0003c0002t0002g0106 a0003c0002t0002g0172 a0003c0002t0002g0201 a0003c0002t0002g0203 a0003c0002t0002g0222 a0003c0002t0002g0230 a0003c0002t0002g0260 a0003c0002t0002g0278 a0003c0002t0002g0290 a0003c0002t0002g0298 a0003c0002t0002g0318 a0003c0002t0003g0057 a0003c0002t0003g0231 a0003c0002t0008g0035 a0003c0002t0008g0210 a0003c0002t0008g0281 a0003c0002t0008g0288 a0003c0002t0021g0077 a0003c0002t0021g0225 a0003c0002t0021g0250 a0003c0002t0025g0078 a0003c0002t0025g0206 a0003c0002t0043g0033 a0003c0002t0043g0034 a0003c0002t0044g0239 a0003c0002t0057g0359 a0003c0002t0057g0362 a0003c0002t0063g0170 a0003c0002t0066g0079 a0003c0002t0068g0031 a0003c0002t0078g0237 a0003c0002t0080g0199 a0003c0002t0081g0145 a0003c0002t0086g0060 a0003c0002t0094g0024 a0003c0002t0104g0256 a0003c0002t0106g0285 a0003c0002t0107g0110 a0003c0002t0131g0108 a0003c0002t0132g0294 a0003c0002t0135g0213 a0003c0002t0137g0040 a0003c0002t0141g0023 a0003c0002t0142g0100 a0003c0002t0143g0244 a0003c0002t0145g0104 a0003c0002t0149g0067 a0003c0002t0152g0071 a0003c0002t0157g0214 a0003c0002t0158g0227 a0003c0002t0162g0119 a0003c0002t0170g0333 a0003c0002t0179g0331 a0003c0002t0202g0185 a0004c0006t0045g0026 a0004c0006t0153g0348 a0004c0006t0154g0347 a0004c0006t0156g0312 a0004c0006t0198g0038 a0005c0009t0032g0133 a0005c0009t0032g0141 a0006c0014t0105g0175 a0006c0019t0119g0243 a0009c0026t0007g0218 a0012c0016t0075g0054	201	363	0.5537	96	c.74 others(107): Show c.7435_*7436insTCATGAATCCCCCTCCTATGGGACAGATTGTCCA CCTTGCCCTCCTGTGGAGACTTCAGTGAATTTAATTACTGGCTCCATTCT TCACAGCTCCCC	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4127		chr18	TogoVar
COLEC12_chr18_311737_505701	312644	C C	CCACTGAA others(89): Show CCACTGAAGTCTCCACAGGAGGGCAAGGTGGACAATCTGTCCCATAGGAG GGGGATTCATGAGGGGAGCTGTGAAGAATGGAGCCAGTAATTAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(95): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01346.hp1 HG01891.hp2 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18949.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19082.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0013	a0001c0003 a0001c0004 a0001c0005 others(13): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0002c0007 a0002c0021 a0003c0002 a0003c0013 a0003c0022 a0003c0027 a0004c0006 a0006c0014 a0007c0011 a0008c0020 a0011c0015 a0013c0025	a0001c0003t0001 a0001c0003t0004 a0001c0003t0019 others(62): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0019 a0001c0003t0027 a0001c0003t0029 a0001c0003t0058 a0001c0003t0070 a0001c0003t0160 a0001c0004t0037 a0001c0004t0089 a0001c0004t0114 a0001c0004t0196 a0001c0005t0058 a0001c0005t0071 a0001c0005t0073 a0001c0005t0200 a0001c0005t0210 a0002c0001t0001 a0002c0001t0004 a0002c0001t0015 a0002c0001t0017 a0002c0001t0022 a0002c0001t0033 a0002c0001t0037 a0002c0001t0046 a0002c0001t0050 a0002c0001t0051 a0002c0001t0053 a0002c0001t0098 a0002c0001t0099 a0002c0001t0120 a0002c0001t0123 a0002c0001t0146 a0002c0001t0168 a0002c0001t0172 a0002c0001t0184 a0002c0001t0191 a0002c0001t0192 a0002c0001t0197 a0002c0007t0001 a0002c0007t0046 a0002c0007t0181 a0002c0021t0195 a0003c0002t0001 a0003c0002t0015 a0003c0002t0019 a0003c0002t0042 a0003c0002t0051 a0003c0002t0062 a0003c0002t0130 a0003c0002t0136 a0003c0002t0139 a0003c0002t0175 a0003c0002t0177 a0003c0002t0185 a0003c0013t0113 a0003c0022t0050 a0003c0027t0109 a0004c0006t0022 a0004c0006t0173 a0006c0014t0033 a0007c0011t0036 a0008c0020t0004 a0011c0015t0189 a0013c0025t0187	a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0004g0188 others(95): Show a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0004g0188 a0001c0003t0004g0351 a0001c0003t0019g0103 a0001c0003t0019g0321 a0001c0003t0027g0107 a0001c0003t0027g0261 a0001c0003t0029g0207 a0001c0003t0058g0355 a0001c0003t0070g0299 a0001c0003t0160g0340 a0001c0004t0037g0313 a0001c0004t0089g0196 a0001c0004t0114g0255 a0001c0004t0196g0325 a0001c0005t0058g0357 a0001c0005t0071g0303 a0001c0005t0073g0037 a0001c0005t0200g0336 a0001c0005t0210g0354 a0002c0001t0001g0041 a0002c0001t0001g0046 a0002c0001t0001g0052 a0002c0001t0001g0056 a0002c0001t0001g0101 a0002c0001t0001g0105 a0002c0001t0001g0123 a0002c0001t0001g0155 a0002c0001t0001g0173 a0002c0001t0001g0211 a0002c0001t0001g0263 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0276 a0002c0001t0001g0287 a0002c0001t0001g0295 a0002c0001t0004g0127 a0002c0001t0004g0137 a0002c0001t0004g0153 a0002c0001t0004g0251 a0002c0001t0004g0253 a0002c0001t0004g0270 a0002c0001t0015g0171 a0002c0001t0017g0186 a0002c0001t0017g0212 a0002c0001t0017g0220 a0002c0001t0022g0130 a0002c0001t0022g0179 a0002c0001t0033g0109 a0002c0001t0037g0082 a0002c0001t0046g0191 a0002c0001t0050g0240 a0002c0001t0051g0055 a0002c0001t0053g0332 a0002c0001t0053g0335 a0002c0001t0098g0195 a0002c0001t0099g0224 a0002c0001t0120g0063 a0002c0001t0123g0028 a0002c0001t0146g0304 a0002c0001t0168g0167 a0002c0001t0172g0242 a0002c0001t0184g0302 a0002c0001t0191g0324 a0002c0001t0192g0014 a0002c0001t0197g0209 a0002c0007t0001g0094 a0002c0007t0046g0022 a0002c0007t0181g0039 a0002c0021t0195g0176 a0003c0002t0001g0061 a0003c0002t0001g0124 a0003c0002t0001g0180 a0003c0002t0015g0183 a0003c0002t0015g0228 a0003c0002t0019g0128 a0003c0002t0042g0089 a0003c0002t0042g0115 a0003c0002t0051g0337 a0003c0002t0062g0004 a0003c0002t0130g0111 a0003c0002t0136g0122 a0003c0002t0139g0279 a0003c0002t0175g0118 a0003c0002t0177g0085 a0003c0002t0185g0144 a0003c0013t0113g0246 a0003c0022t0050g0030 a0003c0027t0109g0126 a0004c0006t0022g0095 a0004c0006t0173g0311 a0006c0014t0033g0021 a0007c0011t0036g0097 a0007c0011t0036g0226 a0008c0020t0004g0193 a0011c0015t0189g0249 a0013c0025t0187g0257	98	146	0.6712	96	c.74 others(107): Show c.7400_*7401insAATTTAATTACTGGCTCCATTCTTCACAGCTCCC CTCATGAATCCCCCTCCTATGGGACAGATTGTCCACCTTGCCCTCCTGTG GAGACTTCAGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4092		chr18	TogoVar
COLEC12_chr18_311737_505701	312671	G G	GTGGACAA others(89): Show GTGGACAATCTGTCCCATAGGAGGGGGATTCATGAGGGGAGCTGTGAAGA ATGGAGCCAGTAATTAAATTCACTGAAGTCTCCACAGGAGGGCAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19002.hp1 NA19070.hp2 others(1): Show HG00673.hp1 NA19002.hp1 NA19070.hp2 NA19081.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0028 a0002c0001t0087 a0003c0002t0150 a0002c0001t0028 a0002c0001t0087 a0003c0002t0150	a0002c0001t0028g0064 a0002c0001t0028g0264 a0002c0001t0087g0066 others(1): Show a0002c0001t0028g0064 a0002c0001t0028g0264 a0002c0001t0087g0066 a0003c0002t0150g0146	4	364	0.0110	96	c.73 others(107): Show c.7373_*7374insTCTTGCCCTCCTGTGGAGACTTCAGTGAATTTAA TTACTGGCTCCATTCTTCACAGCTCCCCTCATGAATCCCCCTCCTATGGG ACAGATTGTCCA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4065		chr18	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(89): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18941.hp1 NA18969.hp2 others(1): Show HG02818.hp1 NA18941.hp1 NA18969.hp2 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0124 a0002c0003t0001g0132 a0002c0003t0001g0139 others(1): Show a0002c0003t0001g0124 a0002c0003t0001g0132 a0002c0003t0001g0139 a0002c0003t0001g0202	4	250	0.0160	96	c.735 others(111): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTGT others(89): Show GTGTGTGTATATATGTGCATATATACACACACATGTGTGTATATATGTGC ATATATACACACACATGTGTGTATATATGTGCATATATACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0054 a0054	a0054c0088 a0054c0088	a0054c0088t0001 a0054c0088t0001	a0054c0088t0001g0084 a0054c0088t0001g0084	1	225	0.0044	96	c.221 others(115): Show c.2213+2997_2213+2998insTGTGTGTGTATATATGCACATATATA CACACATGTGTGTGTATATATGCACATATATACACACATGTGTGTGTATA TATGCACATATATACACACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPNE4_chr3_131528569_132040014	131792623	A A	ATATATAT others(89): Show ATATATATACACACGTGTATATATGTATATATACACACGTGTATATATGT ATATATACACACGTGTATATATGTATATATACACACGTGTATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18960.hp1 NA18939.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0057 a0001c0002t0003g0061 a0001c0001t0001g0057 a0001c0002t0003g0061	2	75	0.0267	96	c.181 others(115): Show c.181-68999_181-68998insCATATATACACGTGTGTATATATACA TATATACACGTGTGTATATATACATATATACACGTGTGTATATATACATA TATACACGTGTGTATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPTP_chr1_1319802_1333896	1324067	A A	AGGGGCTG others(89): Show AGGGGCTGAGGGGCTGGGAGGCTGAGAGGCTGGGGAGCTGGGGGGCTGAG GGTCTGCGGGGCTGAGGGGCTGGGGGGCTGGGAGGCTGAGAGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	369	0.0027	96	c.-11 others(107): Show c.-1111_-1110insGGGGCTGAGGGGCTGGGAGGCTGAGAGGCTGGGG AGCTGGGGGGCTGAGGGTCTGCGGGGCTGAGGGGCTGGGGGGCTGGGAGG CTGAGAGGCTGG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		734		chr1	TogoVar
CREB5_chr7_28407518_28830894	28560969	T T	TGTGCGCG others(89): Show TGTGCGCGTGTGCGTGCGTGCGCGTGCGTGTGTGTGTGCGCGTGTGCGTG CGTGCGCGTGCGTGTGTGCACGTGTGTGCGCGTGCGTGTGTGCGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20752.hp2 HG00735.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0069 a0001c0001t0011g0133 a0001c0001t0003g0069 a0001c0001t0011g0133	2	114	0.0175	96	c.292 others(113): Show c.292-9391_292-9390insCGTGTGCGTGCGTGCGCGTGCGTGTGTG TGTGCGCGTGTGCGTGCGTGCGCGTGCGTGTGTGCACGTGTGTGCGCGTG CGTGTGTGCGTGCGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28658963	A A	ATATATAT others(89): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATATATATGTATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0070 a0001c0001t0013g0070	1	173	0.0058	96	c.465 others(115): Show c.465-59773_465-59772insATATATATATATGTATATATATATAT ATATATATATATATGTATATATATGTATATATATATATATATATATATAT ATGTATATATATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRELD2_chr22_49913634_49932537	49926644	T T	TCCCCCCC others(89): Show TCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCGTCCCCTC TTTCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA21309.hp1 HG01074.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0036 a0001c0003t0002g0036	2	311	0.0064	96	c.101 others(113): Show c.1010-608_1010-607insCCCCACCCCGGGTCCCCTCTTGCCCCTC CCTCCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCACCCTCGGTCCCC TCTTGCCCCTCCCTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRLF2_chrX_1185490_1217649	1198215	C C	CCCAGGAA others(89): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG02818.hp1 HG03041.hp2	a0006 a0010 a0006 a0010	a0006c0023 a0010c0019 a0006c0023 a0010c0019	a0006c0023t0002 a0010c0019t0001 a0006c0023t0002 a0010c0019t0001	a0006c0023t0002g0041 a0010c0019t0001g0036 a0006c0023t0002g0041 a0010c0019t0001g0036	2	60	0.0333	96	c.646 others(111): Show c.646+346_646+347insCTGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRTAC1_chr10_97860000_98035621	97900478	A A	ATAGCCCC others(89): Show ATAGCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTTCCTGGT AGTGATTGGAGCCCGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG02886.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0195 a0001c0001t0001g0120 a0001c0001t0001g0195	2	202	0.0099	96	c.113 others(115): Show c.1133+1024_1133+1025insCGGGCTCCAATCACTACCAGGAAAAG GGGCTACGGGCTCCAATCACTACCAGGAAAAGGGGCTACGGGCTCCAATC ACTACCAGGAAAAGGGGCTA	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900669	T T	TGTAGCCC others(89): Show TGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTTCCTGG TAGTGATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0140	1	183	0.0055	96	c.113 others(113): Show c.1133+833_1133+834insGGGCTCCAATCACTACCAGGAAAAGGGG CTACAGGGTCCAATCACTACCAGGAAAAGGGGCTACGGGCTCCAATCACT ACCAGGAAAAGGGGCTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900890	G G	GCCCGTAG others(89): Show GCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCC TGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG02630.hp2 others(2): Show HG01255.hp2 HG01433.hp1 HG02630.hp2 HG03688.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0007 a0001c0001 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0002c0007t0001	a0001c0001t0001g0183 a0001c0006t0001g0055 a0001c0006t0002g0042 others(2): Show a0001c0001t0001g0183 a0001c0006t0001g0055 a0001c0006t0002g0042 a0002c0007t0001g0149 a0002c0007t0001g0150	5	184	0.0272	96	c.113 others(113): Show c.1133+612_1133+613insGTCCAATCACTACCAGGAAAAGGGGCTA CGGGGTCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTACC AGGAAAAGGGGCTACGGG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900890	G G	GCCCGTAG others(89): Show GCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCTTTTTCC TGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0093 a0001c0015t0001g0093	1	180	0.0056	96	c.113 others(113): Show c.1133+612_1133+613insGTCCAATCACTACCAGGAAAAGGGGCTA CGGGGTCCAATCACTACCAGGAAAAAGGGCTACGGGGTCCAATCACTACC AGGAAAAGGGGCTACGGG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900925	T T	CGTAGCCC others(89): Show CGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGG TAGTGATTGGACCCTGTAGCCCCTTTTCCTGGTAGTGATTGGAGCCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03710.hp1 NA18967.hp2 HG01943.hp1 HG03710.hp1 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0001 a0001c0003t0001 a0001c0016t0001	a0001c0003t0001g0039 a0001c0003t0001g0059 a0001c0016t0001g0092 a0001c0003t0001g0039 a0001c0003t0001g0059 a0001c0016t0001g0092	3	194	0.0155	96	c.113 others(113): Show c.1133+578_1133+579insGGCTCCAATCACTACCAGGAAAAGGGGC TACAGGGTCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTA CCAGGAAAAGGGGCTACG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTC3_chr15_90524923_90650345	90647354	C C	CCCACCTC others(89): Show CCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTC CCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	274	0.0036	96	c.52 others(107): Show c.5214_*5215insCCACCTCACTTCTCCCCCTTCACACACCTCCTCA ACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTC CCCTCATCACCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2010		chr15	TogoVar
CRYL1_chr13_20398669_20530857	20455432	T T	TCATAATC others(89): Show TCATAATCATGAATTGGAAAACTCAAGCTATACCATAATCATGAATTGGA AAACTCAAGCTACATCATAATCATGAATTGGAAAACTCAAGCTATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00609.hp2 others(64): Show HG00099.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG03017.hp1 HG03453.hp2 HG03486.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18943.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18972.hp2 NA18977.hp2 NA18981.hp1 NA18984.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19009.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0002c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 others(64): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0199 a0001c0001t0002g0233 a0001c0002t0001g0074 a0001c0002t0001g0092 a0001c0002t0001g0103 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0126 a0001c0002t0001g0150 a0001c0002t0001g0171 a0001c0002t0001g0187 a0001c0002t0001g0239 a0001c0002t0002g0098 a0001c0002t0002g0131 a0001c0002t0002g0231 a0001c0003t0001g0003 a0001c0003t0001g0021 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0004t0001g0032 a0001c0004t0001g0044 a0002c0007t0001g0143	67	248	0.2702	96	c.277 others(115): Show c.277-15679_277-15678insGTATAGCTTGAGTTTTCCAATTCATG ATTATGATGTAGCTTGAGTTTTCCAATTCATGATTATGGTATAGCTTGAG TTTTCCAATTCATGATTATG	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CSMD1_chr8_2930361_4999914	3237901	A A	ATACTTAT others(89): Show ATACTTATACTACAAATATAATTTTTATAATTATACTTATACTACAAATA TAATTTTTATAATTATACTTATACTATAAATATAAATTTTATATTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18983.hp1 HG02486.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0061 a0002c0070 a0001c0061 a0002c0070	a0001c0061t0001 a0002c0070t0046 a0001c0061t0001 a0002c0070t0046	a0001c0061t0001g0021 a0002c0070t0046g0092 a0001c0061t0001g0021 a0002c0070t0046g0092	2	50	0.0400	96	c.415 others(115): Show c.4154-7671_4154-7670insGAAATATAAAATTTATATTTATAGTA TAAGTATAATTATAAAAATTATATTTGTAGTATAAGTATAATTATAAAAA TTATATTTGTAGTATAAGTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(89): Show ATATATACACGTATATATGCACGTATATATACACGTATATATGTATACGT GTATATACACGTGTATATATACGTGTATATACACGTATATATACGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	74	0.0135	96	c.156 others(115): Show c.1562-2368_1562-2367insCACGTATATATACGTGTATATACACG TATATATACACGTGTATATACACGTATACATATATACGTGTATATATACG TGCATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(89): Show ATATATACACGTATATATGTATACGTGTATATACACGTATATATGTATAC GTGTATATACACGTATATATACGTGTATATACACGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19240.hp1 HG03669.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0085 a0001c0006 a0001c0085	a0001c0006t0002 a0001c0085t0020 a0001c0006t0002 a0001c0085t0020	a0001c0006t0002g0109 a0001c0085t0020g0060 a0001c0006t0002g0109 a0001c0085t0020g0060	2	75	0.0267	96	c.156 others(115): Show c.1562-2368_1562-2367insCACGTATATATACGTGTATATACACG TATATATACGTGTATATACACGTATACATATATACGTGTATATACACGTA TACATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(89): Show ATATATACACGTATATATGTATACGTGTATATACACGTATATATGTATAC GTGTATATACACGTATGTATACGTGTATATACACGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0007 a0002c0060t0007	a0002c0060t0007g0094 a0002c0060t0007g0094	1	74	0.0135	96	c.156 others(115): Show c.1562-2368_1562-2367insCACGTATATATACGTGTATATACACG TATACATACGTGTATATACACGTATACATATATACGTGTATATACACGTA TACATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448321	A A	AAGGGAGG others(89): Show AAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0031 a0031	a0031c0113 a0031c0113	a0031c0113t0013 a0031c0113t0013	a0031c0113t0013g0043 a0031c0113t0013g0043	1	85	0.0118	96	c.156 others(117): Show c.1561+20390_1561+20391insCCCTCCCCCTCCCTCCCTCCCTCC CTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTTCTTCCTTCCTTCC TTCCTTCCCTCCCTCCCTCCCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTBS_chr1_84544611_84579440	84574524	C C	CGGGAGGG others(89): Show CGGGAGGGGCGGGGAGGGGCGGGAGGGGCGGGGAGGGGCGGGAGGGGCGG GGAGGGGCGGGAGGGGCGGGGAGGGGCGGGAGGGGCGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG03834.hp1 NA18989.hp2 others(1): Show HG00621.hp2 HG03834.hp1 NA18989.hp2 NA19054.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0003 a0002c0005t0004g0094 a0002c0005t0004g0003 a0002c0005t0004g0094	4	319	0.0125	96	c.-11 others(105): Show c.-110_-109insCGCCCCTCCCCGCCCCTCCCGCCCCTCCCCGCCCCT CCCGCCCCTCCCCGCCCCTCCCGCCCCTCCCCGCCCCTCCCGCCCCTCCC CGCCCCTCCC	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		85		chr1	TogoVar
CTBS_chr1_84544611_84579440	84574524	C C	CGGGAGGG others(89): Show CGGGAGGGGCGGGGAGGGGCGGGAGGGGCGGGGAGGGGCGGGAGGGGCGG GGAGGGGCGGGGAGGGGCGGGAGGGGCGGGAGGGGCGGGGAGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0096 a0002c0005t0016g0096	1	316	0.0032	96	c.-11 others(105): Show c.-110_-109insCGCCCCTCCCCGCCCCTCCCGCCCCTCCCGCCCCTC CCCGCCCCTCCCCGCCCCTCCCGCCCCTCCCCGCCCCTCCCGCCCCTCCC CGCCCCTCCC	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		85		chr1	TogoVar
CTDP1_chr18_79674803_79759503	79694120	T T	TCAGGGTG others(89): Show TCAGGGTGGTCGGAGCAGCCCGGCTGGGACAGGAGTGTGGGGGCTGTGAG CACCTAGGGGCGGGTGCTGAGTGCTGGGCGGCCTCATGTCTGCAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0096 a0001c0013t0001g0096	1	375	0.0027	96	c.315 others(113): Show c.315-1076_315-1075insAGGAGTGTGGGGGCTGTGAGCACCTAGG GGCGGGTGCTGAGTGCTGGGCGGCCTCATGTCTGCAGGGCAGGGTGGTCG GAGCAGCCCGGCTGGGAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79694218	A A	AGGGTGGT others(89): Show AGGGTGGTCGGAGCAGCCCAGCTGGGATGGGAGTGTGGGGGCTACAGGCA CCTAGGGGTGGGCGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	367	0.0027	96	c.315 others(111): Show c.315-989_315-988insAGCTGGGATGGGAGTGTGGGGGCTACAGGC ACCTAGGGGTGGGCGCTGAGTGCTGGGCGGTCTCATGTCCACGGGGTGGG GTGGTCGGAGCAGCCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

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