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
C12orf56_chr12_64259762_64395758	64366339	T T	TTATATAT others(211): Show TTATATATATTATATATAACATACAGTTTATATATATTATATATAACATA CAGTTTATATATATTATATATAACATACAGTTTATATATATTATATATAA CATACAGTTTATATATATTATATATAACATACAGTTTATATATATTATAT ATAACATACAGTTTATATATATTATATATAACATACAGTTTATATATATT ATATATAACATACAGTTTA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0218 a0002c0002t0003g0219	2	312	0.0064	218	c.253 others(237): Show c.253-13284_253-13283insTAAACTGTATGTTATATATAATATAT ATAAACTGTATGTTATATATAATATATATAAACTGTATGTTATATATAAT ATATATAAACTGTATGTTATATATAATATATATAAACTGTATGTTATATA TAATATATATAAACTGTATGTTATATATAATATATATAAACTGTATGTTA TATATAATATATATAAACTGTATGTTATATATAATATATATA	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(211): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 NA19030.hp1 others(3): Show HG02109.hp2 HG03209.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0002 a0012 a0049 a0002 a0012 a0049	a0002c0006 a0012c0014 a0049c0043 a0002c0006 a0012c0014 a0049c0043	a0002c0006t0001 a0012c0014t0001 a0049c0043t0001 a0002c0006t0001 a0012c0014t0001 a0049c0043t0001	a0002c0006t0001g0021 a0002c0006t0001g0243 a0002c0006t0001g0262 others(3): Show a0002c0006t0001g0021 a0002c0006t0001g0243 a0002c0006t0001g0262 a0012c0014t0001g0024 a0012c0014t0001g0028 a0049c0043t0001g0205	6	326	0.0184	218	c.145 others(235): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1003316	G G	GCCCTGTG others(211): Show GCCCTGTGGGTGAGTGGAATCCTGTGGGTGGGGAGTCCTGTGGGTAGGGA ATCCTGTGGGTGTGGAGCCCTGTGGGTGGGGAGTCCTGTGGGTGAATGGA GTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCCGGTGGGGA GTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTG GAGTCCTGTGGGTGGGGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02886.hp1 others(3): Show HG01884.hp1 HG02559.hp2 HG02886.hp1 HG02970.hp1 HG03195.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0018 a0002c0002t0003 a0002c0002t0018	a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0317 others(3): Show a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0203	6	326	0.0184	218	c.324 others(235): Show c.324-2766_324-2765insTTCCCCACCCACAGGACTCCACTCACCC ACAGGACTCCACTCACCCACAGGACTCCCCACCCACAGGACTCCCCACCG GCAGGACTCCACTCACCCACAGGACTCCCCACCCACAGGACTCCATTCAC CCACAGGACTCCCCACCCACAGGGCTCCACACCCACAGGATTCCCTACCC ACAGGACTCCCCACCCACAGGATTCCACTCACCCACAGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATGT others(211): Show ATATATGTACATATATATACATATATATACGTATATATACGTATATATAT GTACATATATATACGTATATATACGTATATATACGTACATATATATACGT ATATATACGTATATATATGTACATATATGTACGTATATATACATATATAT ACGTATATATGTATATATATGTACATATATATACGTATATATATGTATAT ATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	118	0.0085	218	c.124 others(235): Show c.1247-398_1247-397insGTACATATATATACATATATATACGTAT ATATACGTATATATATGTACATATATATACGTATATATACGTATATATAC GTACATATATATACGTATATATACGTATATATATGTACATATATGTACGT ATATATACATATATATACGTATATATGTATATATATGTACATATATATAC GTATATATATGTATATATATGTACATATATATACGTATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATGT others(211): Show ATATATGTACATATATATACATATATATACGTATATATACGTATATATAT GTACATATATATACGTATATATACGTATATATATGTACATATATATACGT ATATATACGTATATATATGTACATATATGTACATATATATACATATATAT ACGTATATATGTATATATATGTACATATATATACGTATATATATGTATAT ATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	118	0.0085	218	c.124 others(235): Show c.1247-398_1247-397insGTACATATATATACATATATATACGTAT ATATACGTATATATATGTACATATATATACGTATATATACGTATATATAT GTACATATATATACGTATATATACGTATATATATGTACATATATGTACAT ATATATACATATATATACGTATATATGTATATATATGTACATATATATAC GTATATATATGTATATATATGTACATATATATACGTATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN12_chr19_38725192_38749474	38743357	A A	AGGAGTCC others(211): Show AGGAGTCCATGTCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGTCCCGAGCCCCTCCTCC CTCAGACCCAGGAGTCCATGTCCCGAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATGTCCCGAGC CCCTCCTCCCTCAGACCCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	342	0.0029	218	c.238 others(233): Show c.238-256_238-255insCGGGTCTGAGGGAGGAGGGGCTCGGGACAT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTCGGGACATGGACTCCTGGGTCTGAGGGAGGAGGGGC TCGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTCGGGACATGGACTCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCGTCTCC others(211): Show CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 NA18940.hp2 others(5): Show HG02027.hp2 HG02074.hp1 NA18940.hp2 NA18943.hp1 NA18955.hp2 NA18980.hp2 NA18990.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0047	a0001c0001t0002 a0001c0001t0005 a0001c0002t0020 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0020 a0001c0006t0002 a0001c0007t0002 a0002c0047t0001	a0001c0001t0002g0335 a0001c0001t0002g0369 a0001c0001t0002g0372 others(5): Show a0001c0001t0002g0335 a0001c0001t0002g0369 a0001c0001t0002g0372 a0001c0001t0005g0345 a0001c0002t0020g0098 a0001c0006t0002g0323 a0001c0007t0002g0332 a0002c0047t0001g0373	8	410	0.0195	218	c.-22 others(235): Show c.-22-1991_-22-1990insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CTCACATCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(211): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAA GAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0290 a0002c0004t0004g0290	1	364	0.0028	218	c.234 others(235): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCCTCTCC TTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCCTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(211): Show AAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGG AGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAG AAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGGAGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	364	0.0028	218	c.234 others(235): Show c.234+6868_234+6869insCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT CCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(211): Show AAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGG AGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG AAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGGAGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	364	0.0028	218	c.234 others(235): Show c.234+6868_234+6869insCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(211): Show AAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGG AGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	364	0.0028	218	c.234 others(235): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(211): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18950.hp1 NA18979.hp2 NA18943.hp2 NA18950.hp1 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0196 a0001c0002t0003g0003 a0001c0002t0003g0196	3	364	0.0082	218	c.234 others(235): Show c.234+6849_234+6850insCCTTCTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCT CCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(211): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	364	0.0028	218	c.234 others(235): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCT CCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AGGAGGAA others(211): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18747.hp2 HG00597.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0201 a0001c0002t0003g0202	2	364	0.0055	218	c.234 others(235): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AGGAGGAA others(211): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0048 a0001c0002t0003g0048	1	364	0.0028	218	c.234 others(235): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAAGAA others(211): Show AGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGG AGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	364	0.0028	218	c.234 others(235): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AGGAGGAA others(211): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0178 a0001c0002t0022g0178	1	364	0.0028	218	c.234 others(235): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AGGAGGAA others(211): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0218 a0001c0002t0003g0218	1	364	0.0028	218	c.234 others(235): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761479	A A	AGGAGGAA others(211): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAG GAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02293.hp2 HG01106.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0182 a0001c0006t0003g0183 a0001c0006t0003g0182 a0001c0006t0003g0183	2	364	0.0055	218	c.234 others(235): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(211): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	410	0.0024	218	c.-22 others(229): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(211): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCC CTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCC CGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02293.hp2 HG01074.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	410	0.0049	218	c.-22 others(229): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(211): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	442	0.0023	218	c.27 others(229): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(211): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	218	c.27 others(229): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(211): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 NA18948.hp1 NA19010.hp2 HG02004.hp1 NA18948.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0004t0001g0012 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0004t0001g0012	3	440	0.0068	218	c.12 others(229): Show c.1214_*1215insTATAGATGTATCTATATATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720790	G G	GCCCGGCC others(211): Show GCCCGGCCACAATGCCAGAAAGACAGAACTAACAGGGAGGCGAAGGAACC GCAGGCACTGCCACGAAATCTAACCGCCCTTCCTCCCACCCCGCCCTCCT CCCAAGCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCTTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	354	0.0028	218	c.68 others(229): Show c.6885_*6886insCCCGGCCACAATGCCAGAAAGACAGAACTAACAG GGAGGCGAAGGAACCGCAGGCACTGCCACGAAATCTAACCGCCCTTCCTC CCACCCCGCCCTCCTCCCAAGCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4789		chr9	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AAGAAAGA others(211): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	316	0.0032	218	c.117 others(237): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(211): Show ATATTTATTTTAATATATAAAATAAATATTTTTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTA ATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	402	0.0025	218	c.80- others(233): Show c.80-4988_80-4987insAATATTTTTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATAT ATAAAATATTTTATTTATTTATTTTAATATATAAAATA	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(211): Show ATATTTATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTA ATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp2 HG03453.hp1 HG02559.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0024 a0001c0001t0011 a0001c0001t0024	a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0024g0262 a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0024g0262	3	402	0.0075	218	c.80- others(233): Show c.80-5000_80-4999insTATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTAT TTATTTTAATATATAAAATATTTTATTTATTTATTTTA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTTT others(211): Show ATATTTTTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTA ATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02055.hp1 HG02109.hp2 others(3): Show HG01975.hp2 HG02055.hp1 HG02109.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0251 a0001c0001t0002g0252 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253	6	402	0.0149	218	c.80- others(233): Show c.80-5006_80-5005insTTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRNA6_chr8_42747620_42773786	42766494	A A	AAAAGAAA others(211): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	350	0.0029	218	c.80- others(233): Show c.80-1291_80-1290insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CHRNA6	ENSG00000147434.9	transcript	ENST00000276410.7	protein_coding	1/5			chr8	TogoVar
CNTNAP2_chr7_146111801_148425998	146535117	A A	ATATATAT others(211): Show ATATATATTATATATATTATATATATTATATATTATATATATATAATATA TATATTATATATATTATATATAATATATATGTTATATATTATATATATTA TATATTATATATATGTTATATATTATATATATTATATATAATATATATAA TATATAACATATATAATATATAACATATATATTATATATATAATATATAT CATATATAATATATTATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	40	0.0250	218	c.98- others(237): Show c.98-239149_98-239148insATTATATATATTATATATATTATATA TTATATATATATAATATATATATTATATATATTATATATAATATATATGT TATATATTATATATATTATATATTATATATATGTTATATATTATATATAT TATATATAATATATATAATATATAACATATATAATATATAACATATATAT TATATATATAATATATATCATATATAATATATTATATTATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATACA others(211): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACGTATATATACATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATACACATATATGTGTATATATA CATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18990.hp2 NA18969.hp1 NA18990.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0004 a0001c0001t0002 a0004c0003t0004	a0001c0001t0002g0291 a0004c0003t0004g0250 a0001c0001t0002g0291 a0004c0003t0004g0250	2	344	0.0058	218	c.88- others(235): Show c.88-34851_88-34850insCATATATGTGTATATATACATATATGTG TATATATGTGTATATATACATATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACATATATGTGTATATATGTGTATATATACATATATGTGTATATACACA TATATGTGTATATATACATATATGTGTATATATACATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATACA others(211): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACGTATATATACATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATA CATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	344	0.0029	218	c.88- others(235): Show c.88-34851_88-34850insCATATATGTGTATATATACATATATGTG TATATATGTGTATATATACATATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACATATATGTGTATATATGTGTATATATACATATATGTGTATATATACA TATATGTGTATATATACATATATGTGTATATATACATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATACA others(211): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATGTGTATATATACATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATA CATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	344	0.0029	218	c.88- others(235): Show c.88-34851_88-34850insCATATATGTGTATATATACATATATGTG TATATATGTGTATATATACATATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATGTGTATATATACATATATGTGTATATA TACATATATGTGTATATATGTGTATATATACATATATGTGTATATATACA TATATGTGTATATATACATATATGTGTATATATACATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(211): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA CCCCCACCACAGTCCGCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0174 a0001c0004t0003g0174	1	412	0.0024	218	c.128 others(233): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCACCCCCACCACAGTCCGCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(211): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTC CTCTCTCTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	350	0.0029	218	c.510 others(237): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCC CTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(211): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC TGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGT ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	372	0.0027	218	c.-70 others(227): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCC GGCTAATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0290 a0001c0001t0008g0325 a0001c0001t0008g0290 a0001c0001t0008g0325	2	370	0.0054	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATTTCTATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	370	0.0027	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	370	0.0027	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18970.hp1 HG01975.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0333 a0001c0001t0001g0307 a0001c0001t0001g0333	2	370	0.0054	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18945.hp2 NA18959.hp2 others(2): Show NA18944.hp2 NA18945.hp2 NA18959.hp2 NA18997.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0252 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0337 a0001c0001t0018g0312	5	370	0.0135	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	370	0.0027	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(211): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	370	0.0027	218	c.56 others(229): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(211): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGA GGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGACGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0066 a0001c0039t0066	a0001c0039t0066g0080 a0001c0039t0066g0080	1	126	0.0079	218	c.416 others(239): Show c.416-142659_416-142658insCCCCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCGTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTU2_chr16_88701503_88720396	88713163	T T	TGCCCCTG others(211): Show TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTTCCCCGGG CCCTGACCCCCACTCATGC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	418	0.0024	218	c.738 others(233): Show c.738-149_738-148insGCCCCTGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTTCCCCGGGCCCTGACCCCCACTCATGC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232190	C C	CTGCCACC others(211): Show CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCA CCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACC TGTCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	396	0.0025	218	c.513 others(233): Show c.513-987_513-986insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232254	C C	CTGCCACC others(211): Show CTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCC ACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCA CCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACC TGTCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0147 a0001c0001t0006g0147	1	396	0.0025	218	c.513 others(233): Show c.513-923_513-922insTGCCACCACCAGTATTACTGTCACCGCCAC CACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACT ATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTAT TACTACTGCCACCACCACCTGTCCACCACCATTACTGT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYBRD1_chr2_171517474_171563129	171558477	T T	TTAATATT others(211): Show TTAATATTATGTATTTATATATAATATGTAATATTATATATTTATATATA ATATGTAATATTATATATATATAATATGTAATATTATATATATATAATAT GTAATATTATATATATATAATATGTAATATTATATATATATAATATGTAA TATTATATATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0292 a0001c0001t0020g0292	1	394	0.0025	218	c.36 others(229): Show c.3650_*3651insTAATATTATGTATTTATATATAATATGTAATATT ATATATTTATATATAATATGTAATATTATATATATATAATATGTAATATT ATATATATATAATATGTAATATTATATATATATAATATGTAATATTATAT ATATATAATATGTAATATTATATATATATAATATGTAATATTATATATAT ATAATATGTAATATTATATATATATAATATGTAA	CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding		349		chr2	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(211): Show TATTATATAATATATATAATATATATTATATATTATATATATTATATAAT ATATATAATATATATATTATATATAATATATAATATATTATTATATATAT TATAAATTTATATAATATATATAATATATATATTATATATAATATATTAT ATATTATATAATATATAATATATATAATATATAATATATTATATATAATA TATTATATATTATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	240	0.0042	218	c.36 others(229): Show c.3650_*3651insTATTATATAATATATAATATATTATATATAATAT ATTATATATTATATATATTATATATTATATAATATATAATATATTATATA TAATATATATATTATATATATTATATAAATTTATAATATATATAATAATA TATTATATATTATATATAATATATATATTATATATATTATATAATATATA TAATATATAATATATATTATATATATTATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar

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