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
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(208): Show TCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGGTCGGTGAGGG CCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGC CCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTCGGTGAGGGTC CCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCC CCTGTCGGTGAGGGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 NA19043.hp1 HG01884.hp2 HG02886.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0057 a0001c0058 a0003c0034 a0001c0057 a0001c0058 a0003c0034	a0001c0057t0003 a0001c0058t0031 a0003c0034t0003 a0001c0057t0003 a0001c0058t0031 a0003c0034t0003	a0001c0057t0003g0025 a0001c0058t0031g0024 a0003c0034t0003g0363 a0001c0057t0003g0025 a0001c0058t0031g0024 a0003c0034t0003g0363	3	410	0.0073	215	c.206 others(232): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGG GCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGC CCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGC CCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(208): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	186	0.0054	215	c.615 others(232): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(208): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0265 a0002c0003t0001g0265	1	364	0.0028	215	c.234 others(232): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(208): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG AAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0301	1	364	0.0028	215	c.234 others(232): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(208): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0270 a0002c0003t0001g0270	1	364	0.0028	215	c.234 others(232): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(208): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0300 a0002c0003t0001g0300	1	364	0.0028	215	c.234 others(232): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(208): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAG AAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0311 a0002c0003t0001g0311	1	364	0.0028	215	c.234 others(232): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(208): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGAGGGAGA GGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	364	0.0028	215	c.234 others(232): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(208): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGA GGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	364	0.0028	215	c.234 others(232): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(208): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0205 a0001c0002t0003g0205	1	364	0.0028	215	c.234 others(232): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAGGAA others(208): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG03540.hp2 HG02451.hp2 HG02965.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0005 a0001c0002t0003 a0001c0007t0009 a0001c0001t0005 a0001c0002t0003 a0001c0007t0009	a0001c0001t0005g0165 a0001c0002t0003g0231 a0001c0007t0009g0180 a0001c0001t0005g0165 a0001c0002t0003g0231 a0001c0007t0009g0180	3	364	0.0082	215	c.234 others(232): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(208): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0186 a0001c0002t0003g0186	1	364	0.0028	215	c.234 others(232): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCC CTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC170_chr6_151489017_151626193	151499632	T T	TAAGTGGA others(208): Show TAAGTGGAATCAGAGTGTATTTGACTATTTTAGGCACGGTGTATAAGTGG AATCATACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGGAATCATA CTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGGAATCAGAGTGTATT TAACTATTCTAGCCATTCTGTGTAAGTGGAATCATGCTGTATTTGACTCT TCTAGGCACTCTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp1 others(20): Show HG00140.hp2 HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG02165.hp1 HG02735.hp1 HG03130.hp2 HG03195.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0017	a0001c0001 a0001c0005 a0002c0002 others(7): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0003c0009 a0004c0006 a0005c0007 a0005c0039 a0009c0013 a0017c0037	a0001c0001t0008 a0001c0001t0009 a0001c0001t0052 others(12): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0052 a0001c0005t0008 a0002c0002t0004 a0003c0004t0005 a0003c0004t0020 a0003c0009t0005 a0004c0006t0002 a0004c0006t0008 a0004c0006t0009 a0005c0007t0028 a0005c0039t0028 a0009c0013t0010 a0017c0037t0001	a0001c0001t0008g0094 a0001c0001t0009g0090 a0001c0001t0052g0104 others(20): Show a0001c0001t0008g0094 a0001c0001t0009g0090 a0001c0001t0052g0104 a0001c0005t0008g0099 a0002c0002t0004g0109 a0003c0004t0005g0096 a0003c0004t0005g0111 a0003c0004t0020g0110 a0003c0009t0005g0108 a0004c0006t0002g0093 a0004c0006t0002g0097 a0004c0006t0002g0098 a0004c0006t0002g0101 a0004c0006t0002g0103 a0004c0006t0008g0091 a0004c0006t0008g0095 a0004c0006t0008g0106 a0004c0006t0009g0102 a0004c0006t0009g0105 a0005c0007t0028g0089 a0005c0039t0028g0107 a0009c0013t0010g0100 a0017c0037t0001g0092	23	320	0.0719	215	c.57+ others(230): Show c.57+5458_57+5459insGAGTGTATTTGACTATTTTAGGCACGGTGT ATAAGTGGAATCATACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTG GAATCATACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGGAATCAG AGTGTATTTAACTATTCTAGCCATTCTGTGTAAGTGGAATCATGCTGTAT TTGACTCTTCTAGGCACTCTGTGCAAGTGGAATCA	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC30_chr1_42458286_42662190	42546393	A A	ATATATAT others(208): Show ATATATATATATGTATATGTATATATATACACGTATATATATACGTATAT ATATACACGTATATATATACGTATATATATACACGTATATATATACGTAT ATATATACACGTATATATATACGTATATATATACACGTATATATATACGT ATATATATACACGTATATATATACGTATATATATACACGTATATATATAT GTATATATATACACGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0032	1	324	0.0031	215	c.890 others(230): Show c.890+814_890+815insTATATATATATGTATATGTATATATATACA CGTATATATATACGTATATATATACACGTATATATATACGTATATATATA CACGTATATATATACGTATATATATACACGTATATATATACGTATATATA TACACGTATATATATACGTATATATATACACGTATATATATACGTATATA TATACACGTATATATATATGTATATATATACACGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20			chr1	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(208): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATGTTATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01928.hp1 HG02074.hp1 others(6): Show HG00544.hp2 HG01928.hp1 HG02074.hp1 NA18948.hp2 NA18963.hp2 NA18981.hp2 NA18985.hp1 NA19057.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0116 a0001c0001t0001g0117	9	424	0.0212	215	c.-29 others(232): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATGTTATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATTTATATAAATATATATATAACATATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD81_chr11_2372310_2402397	2379385	G G	GGGGGCTG others(208): Show GGGGGCTGAGGGAGAGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGT GGACCTGGGGGTGGGGGTTGAGGGAGGGTGTGGACCTGGGGGTAGGGGCT GAGGGAGTGTGGACCTGGGGGTGGGGGCTGAGGGAGGGTGTGGACCTGGG GGTAGGGGCTGAGGGAGAGTGTGGACCTGGGGGTGGGGGTTGAGGGAGGG TGTGGACCTGGGGGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	388	0.0026	215	c.66+ others(230): Show c.66+1800_66+1801insGGGGGCTGAGGGAGAGTGTGGACCTGGGGG TGGGGGTTGAGGGAGGGTGTGGACCTGGGGGTAGGGGCTGAGGGAGTGTG GACCTGGGGGTGGGGGCTGAGGGAGGGTGTGGACCTGGGGGTAGGGGCTG AGGGAGAGTGTGGACCTGGGGGTGGGGGTTGAGGGAGGGTGTGGACCTGG GGGCAGGGGCTGAGGGAGAGTGTGGACCTGGGGGT	CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(208): Show CTATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATAT AGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATATCTATATAGATGCATCTAT ATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGAT ATATAATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02559.hp1 others(1): Show HG00738.hp2 HG01074.hp2 HG02559.hp1 HG02622.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0014 a0005c0008t0006g0029 a0005c0008t0006g0081 a0005c0008t0006g0014 a0005c0008t0006g0029 a0005c0008t0006g0081	4	440	0.0091	215	c.13 others(226): Show c.1360_*1361insTCTATATAGATTATATATCTATATAGATGCATCT ATATATCTATATAGATGCATCTATATATCTATATAGATGCATCTATATAG ATATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT AGATGCATCTATATATCTATATAGATGCATCTATATATCTATATAGATGC ATCTATATATCTATATAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CFAP61_chr20_20047532_20365698	20296016	T T	TCCTTCCT others(208): Show TCCTTCCTTCCTGCCTGCCTGCCTGCCTGCCTTCCTGCCTTCCCTTCCTC CCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCC TTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCC CTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCT CCCTTCCTTCCCATCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03239.hp1 HG03942.hp2 HG01168.hp1 HG03239.hp1 HG03942.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0049 a0001c0003 a0002c0002 a0003c0049	a0001c0003t0001 a0002c0002t0001 a0003c0049t0001 a0001c0003t0001 a0002c0002t0001 a0003c0049t0001	a0001c0003t0001g0073 a0002c0002t0001g0088 a0003c0049t0001g0059 a0001c0003t0001g0073 a0002c0002t0001g0088 a0003c0049t0001g0059	3	236	0.0127	215	c.321 others(234): Show c.3217-2165_3217-2164insCCTTCCTTCCTGCCTGCCTGCCTGCC TGCCTTCCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTT CCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCC TCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTC CCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357116	A A	AGGGGAGA others(208): Show AGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	236	0.0042	215	c.351 others(234): Show c.3514-3093_3514-3092insGGGAGATGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(208): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATA TATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	402	0.0025	215	c.80- others(230): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATA AAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(208): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	402	0.0025	215	c.80- others(230): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATA AAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(208): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCGCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0033 a0033	a0033c0066 a0033c0066	a0033c0066t0001 a0033c0066t0001	a0033c0066t0001g0205 a0033c0066t0001g0205	1	428	0.0023	215	c.217 others(232): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC10A_chr17_7069537_7085251	7077680	C C	CCCCATCA others(208): Show CCCCATCAATCACTCCATCAGTGCCCCCCTACCGTTACCATCAATCACTC CATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCT CCTCCATTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATC AATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAG TGCCCTCTCCTCCATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	458	0.0022	215	c.184 others(230): Show c.184+316_184+317insAATGGAGGAGAGGGCACTGATGGAGTGATT GATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAGG AGAGGGCACTGATGGAGTGATTGATGGGAATGGAGGAGAGGGCACTGATG GAGTGATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGT AACGGTAGGGGGGCACTGATGGAGTGATTGATGGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
COL18A1_chr21_45400165_45518720	45430101	G G	GCCCTCTC others(208): Show GCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCATCCTCTCC TGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCATCT CCCTAGCGCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCAT CCTCTCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCC CCCTGTCTCCCTGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02145.hp2 others(4): Show HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02809.hp2 HG02818.hp1 HG03225.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0039 a0001c0086 a0005c0021	a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 a0001c0039t0001 a0001c0086t0008 a0005c0021t0002	a0001c0001t0001g0142 a0001c0002t0012g0109 a0001c0003t0001g0145 others(4): Show a0001c0001t0001g0142 a0001c0002t0012g0109 a0001c0003t0001g0145 a0001c0039t0001g0155 a0001c0086t0008g0053 a0005c0021t0002g0138 a0005c0021t0002g0163	7	292	0.0240	215	c.106 others(234): Show c.106+24649_106+24650insATCTCCCTAGCGCCCTCTCATCCTCT CCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCAT CTCCCTAGCGCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTC ATCCTCTCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGG CCCCCTGTCTCCCTGGCACCCTCTCGTTGGGGACCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501701	C C	CAGCCGGT others(208): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0004 a0004	a0004c0033 a0004c0033	a0004c0033t0001 a0004c0033t0001	a0004c0033t0001g0141 a0004c0033t0001g0141	1	292	0.0034	215	c.268 others(234): Show c.2684-2237_2684-2236insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	C C	CAGCCGGT others(208): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0058 a0002c0012t0004g0058	1	292	0.0034	215	c.268 others(234): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC TGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	C C	CAGCCGGT others(208): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCTCTCTGCAGAAGGA CCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0193 a0001c0003t0001g0193	1	292	0.0034	215	c.268 others(234): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC CTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCTCTC TGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502046	G G	GCAGCCGG others(208): Show GCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG ACCCCCAGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0002 a0030c0050t0002	a0030c0050t0002g0108 a0030c0050t0002g0108	1	292	0.0034	215	c.268 others(234): Show c.2684-1944_2684-1943insAGAAGGACCCCCAGGGGCTCCACAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA GGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC AGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0002 a0038c0037t0002	a0038c0037t0002g0097 a0038c0037t0002g0097	1	290	0.0035	215	c.-11 others(230): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGG GAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGGAGTGC AGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGC GGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTG CAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	290	0.0035	215	c.-11 others(230): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(208): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCG GGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTG CAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGC CGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0144 a0001c0009t0013g0144	1	290	0.0035	215	c.-11 others(230): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGG GGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098078	T T	TAAATAAA others(208): Show TAAATAAATATATATAAATATATATAAATATAAATATATATATAAATATG TAATTCTAAATATATATGTAAATATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATATATTTATA AATATATAAATATATATATATTTATAAATATATAAATATATATAAAAATA TATATAAATATATAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0181 a0015c0021t0001g0181	1	264	0.0038	215	c.181 others(234): Show c.1812+3393_1812+3394insTTTATATATTTATATATATTTTTATA TATATTTATATATTTATAAATATATATATATTTATATATTTATAAATATA TATATATTTATATATTTATAAATATATATATATTTATATATTTATAAATA TATATATATTTATATATATTTACATATATATTTAGAATTACATATTTATA TATATATTTATATTTATATATATTTATATATATTTATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(208): Show AGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	412	0.0024	215	c.630 others(230): Show c.630+131_630+132insTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3592319	C C	CGAGAGGG others(208): Show CGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	378	0.0027	215	c.-28 others(226): Show c.-2876_-2875insGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2792		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	350	0.0029	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	350	0.0029	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA20805.hp1 HG02698.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0343 a0001c0002t0001g0132 a0001c0002t0001g0343	2	350	0.0057	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	350	0.0029	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03669.hp2 NA18971.hp1 HG01361.hp1 HG03669.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0140 a0001c0002t0001g0174 a0001c0002t0006g0134 a0001c0002t0001g0140 a0001c0002t0001g0174 a0001c0002t0006g0134	3	350	0.0086	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19091.hp2 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0168 a0001c0002t0001g0121 a0001c0002t0001g0168	2	350	0.0057	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	350	0.0029	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(208): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02083.hp2 HG01106.hp1 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0179 a0001c0002t0001g0122 a0001c0002t0001g0179	2	350	0.0057	215	c.510 others(234): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(208): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGT GTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	372	0.0027	215	c.-70 others(224): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGC TAATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCCG others(208): Show GCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA GCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAGCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	348	0.0029	215	c.927 others(230): Show c.927+647_927+648insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC AGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGAAACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCGTGTC others(208): Show CCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCC CCCCGTGTTACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	348	0.0029	215	c.927 others(230): Show c.927+684_927+685insCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACATGGCCCCCCGTGTTACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTT others(208): Show CCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0268 a0003c0006t0003g0268	1	348	0.0029	215	c.928 others(230): Show c.928-697_928-696insCGTGTTACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDP1_chr18_79674803_79759503	79691538	G G	GGGGTGGG others(208): Show GGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGG AGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCC CAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTC GGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAG GAGTGGACAGCTCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19081.hp2 HG03927.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0185 a0001c0001t0002g0190	2	378	0.0053	215	c.315 others(232): Show c.315-3641_315-3640insAGGAGTGGACGGCTCCCAGGGTGGACTC GGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGG AGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTC CCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACAGCTCCCTGGGTGGGGG AGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNND2_chr5_10966836_11909446	11144126	G G	GCACCAGC others(208): Show GCACCAGCTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAG CTAGGGGTTTCTACCATAGGGGCAGTCCCCAGGTCTACACCAGCTAGGGG TTTCTACCATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGGTTTCTAC CATAGGGGCAGTCCCCAGGTCTGCACCAGCTAGGGGTTTCTACCATAGGG GCAGTCCCCAGGTCTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	26	0.0385	215	c.215 others(236): Show c.2159+15449_2159+15450insTAGACCTGGGGACTGCCCCTATGG TAGAAACCCCTAGCTGGTGCAGACCTGGGGACTGCCCCTATGGTAGAAAC CCCTAGCTGGTGCAGACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGC TGGTGTAGACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGCTGGTGTA GACCTGGGGACTGCCCCTATGGTAGAAACCCCTAGCTGGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(208): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp2 HG02258.hp2 others(7): Show HG01243.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02896.hp1 HG02965.hp2 HG03225.hp2 HG03486.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054	10	292	0.0343	215	c.165 others(230): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGG AGAGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGAGG GGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(208): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAAATATATTTATATAAATATATATTTAT AAAATATATTATATATAATATATATTATATATAAATATATATTATATAAA TATATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATA TTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02622.hp2 HG02630.hp1 others(1): Show HG01123.hp2 HG02622.hp2 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0060 a0001c0001t0062 a0001c0001t0015 a0001c0001t0060 a0001c0001t0062	a0001c0001t0015g0010 a0001c0001t0015g0019 a0001c0001t0060g0011 others(1): Show a0001c0001t0015g0010 a0001c0001t0015g0019 a0001c0001t0060g0011 a0001c0001t0062g0012	4	356	0.0112	215	c.539 others(232): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAAATATATT TATATAAATATATATTTATAAAATATATTATATATAATATATATTATATA TAAATATATATTATATAAATATATATTATATAAAATATATATTTATATAA AAATGTATTATATTATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar

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