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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(431): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCTCTCACCCTGCACCTCCCCCAAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA TCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCC TGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCA CCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0166 a0002c0002t0043g0166	1	268	0.0037	438	c.-36 others(449): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCTCTCACCC TGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAAC CCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCC ATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCT TCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCAC CCTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3526		chr5	TogoVar
AHRR_chr5_316714_443285	344999	G G	GCGCGGGG others(431): Show GCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGTGT GCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGTGTGC GCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGG CTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTG TGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGT GTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGT GTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAG GCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0014 a0003c0004t0004g0014	1	268	0.0037	438	c.62+ others(453): Show c.62+1035_62+1036insCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10						chr5	TogoVar
AK1_chr9_127861486_127882675	127882566	G G	GGAAAGGA others(431): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGGAGGGGAGG AGAGGGGAGGGAAGGGGGGGGGGGAAGAAGGGGAGGGGAAGAAGGGGAAG GGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAAGGGAA CAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAGGAAAG GGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGGAAGAG GGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGAGAAG AAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAG GGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAAGAAGG GAAGAAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0146 a0001c0001t0008g0146	1	426	0.0024	438	c.-49 others(449): Show c.-4977_-4976insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTT TCTTCCCTTCTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCTCCTTCC CTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTT CCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCC TCCCCCTCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCT CTTCCCTTTCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTC CCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTT CTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCCCCCCCCTTCCCTCC CCTCTCCTCCCCTCCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCC TTTC		AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding					4892		chr9	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGGAGGA others(431): Show GAGGAGGAGGAGCAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGA GGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGG AGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAG GAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGC AGGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAG GAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGA GGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGAAGC AGAAGCAGAAGCAGCAGAAGCAGCAGAAGCAGAAGCAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0049 a0002c0008t0001g0049	1	80	0.0125	438	c.667 others(457): Show c.667+88884_667+88885insGTTGCTTCTGCTTCTGCTGCTTCTGC TGCTTCTGCTTCTGCTTCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTG CTCCTCCTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGC TCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTC CTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGC TCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTC CTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCT GCTCCTCCTCCT		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28						chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(431): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGG AGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAG GGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGG GGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGG GGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0154 a0004c0004t0001g0154	1	350	0.0029	438	c.248 others(453): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCT TCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCT CACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCC TCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCACTCG TCGACTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCC CTCTCCTCCTCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCC CCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCT CACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCC CTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACATACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACGTATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 NA19011.hp1 HG00673.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0026 a0001c0001t0023g0064 a0001c0001t0023g0026 a0001c0001t0023g0064	2	256	0.0078	438	c.39 others(447): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACATACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACGTATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT AT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394		chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0002 a0001c0001t0069g0002	1	256	0.0039	438	c.39 others(447): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT AT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394		chrX	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(431): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACATACATATTTATACATATATGTATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACGTACATATTTATACATATATATGTA TAAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTA TACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAA TACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACA TATATATGTATAAATACGTACATATTTATACATATATGTATAAATACATA TACATATTTATACATATATGTATAAATACATATACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0021 a0001c0001t0077g0021	1	256	0.0039	438	c.39 others(447): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT AT		APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9				394		chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(431): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0281 a0001c0015t0001g0281	1	363	0.0028	438	c.-48 others(453): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCAC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCC ACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACC CGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCT GTCCCCCC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825108	C C	CCCGCACC others(431): Show CCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCAC CTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCT GCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTA CTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0058 a0001c0009t0058	a0001c0009t0058g0200 a0001c0009t0058g0200	1	363	0.0028	438	c.-48 others(453): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCC CACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACC TGTTCACC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(431): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGTTGG GGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCT GGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGG GGCTGGGGCTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGG CTGGGGCTGGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCT GGGGCTGAGGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGG GGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGG CTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00099.hp2	a0019 a0019	a0019c0062 a0019c0062	a0019c0062t0001 a0019c0062t0001	a0019c0062t0001g0002 a0019c0062t0001g0002	1	326	0.0031	438	c.546 others(447): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGG CTGGGGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCT GGGGCTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGA GGCTGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGG CTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCT GGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGG GG	p.Gly others(453): Show p.Gly1820_Ala1821insValGlyAlaGlyValGlyAlaGlyValGly AlaGlyAlaGlyAlaGluAlaGluAlaGlyAlaGluAlaGlyAlaGlyAl aGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGlyAlaG lyAlaGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGlyThrGluAlaGly AlaGlyAlaGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyThrGluAl aGlyAlaGlyAlaGluValGlyAlaGlyThrGluAlaGlyAlaArgAlaG lyAlaGluAlaGlyAlaArgAlaGluAlaGluValGlyAlaGlyAlaGly AlaGluAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGlyAlaGluAl aGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAlaArgAlaGluAlaG lyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(431): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	184	0.0054	438	c.784 others(453): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(431): Show GTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGG TGGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGG TGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGT GGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGG TGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	292	0.0034	438	c.21 others(453): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCAC CATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCA CCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCACCA TCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACCATC ACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCAC CACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792873	G G	GTGATGGT others(431): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATGAT GGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	292	0.0034	438	c.21 others(453): Show c.21-522_*21-521insTCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCATCACCACCATCATCACC ATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACCAT CACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCACC ACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCATCACCACCATCATCACCATCACCA CCATCATCACCATCACCACCACCATCACCACCATCACCACCACCATCACC ACCATCACCATCACCACCACCACCATCACCACCATCATCACCATCACCAC CACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(431): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAG GGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02698.hp2 HG02738.hp2 others(3): Show HG01192.hp1 HG02698.hp2 HG02738.hp2 HG03490.hp2 HG03834.hp2 NA18969.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0011 a0002c0002 a0002c0006 a0003c0011	a0002c0002t0001 a0002c0006t0001 a0003c0011t0001 a0002c0002t0001 a0002c0006t0001 a0003c0011t0001	a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0006t0001g0144 others(3): Show a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0006t0001g0144 a0002c0006t0001g0182 a0002c0006t0001g0232 a0003c0011t0001g0183	6	410	0.0146	438	c.465 others(453): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(431): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGCGGGAGGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGAGGGAGGGACGGAGGGACGGAG GGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGA GGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCG GGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	410	0.0024	438	c.465 others(453): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCGCCCTCCCTCCCTCCCGCCCTCCG TCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCCTCCCGCCGTCCCGCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCC GTCCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02109.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0037 a0001c0002t0002 a0001c0001t0037 a0001c0002t0002	a0001c0001t0037g0260 a0001c0002t0002g0279 a0001c0001t0037g0260 a0001c0002t0002g0279	2	430	0.0047	438	c.-18 others(449): Show c.-1800_-1799insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding					558		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02615.hp1 others(2): Show HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 others(2): Show a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0007g0244 a0001c0001t0007g0247	5	430	0.0116	438	c.-18 others(449): Show c.-1800_-1799insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding					558		chr19	TogoVar
CACNG6_chr19_53986637_54017666	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03471.hp2 NA20300.hp1 HG03453.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0248 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0001t0002g0248 a0001c0002t0002g0280 a0001c0002t0002g0281	3	430	0.0070	438	c.-18 others(449): Show c.-1800_-1799insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding					558		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0068 a0001c0001t0009 a0001c0001t0068	a0001c0001t0009g0053 a0001c0001t0068g0080 a0001c0001t0009g0053 a0001c0001t0068g0080	2	394	0.0051	438	c.82 others(449): Show c.8229_*8230insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					864		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTC AGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02615.hp2 others(2): Show HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0049 a0001c0001t0009g0052 a0001c0001t0009g0011 a0001c0001t0009g0049 a0001c0001t0009g0052	5	394	0.0127	438	c.82 others(449): Show c.8229_*8230insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCACCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTTCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					864		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991078	A A	AGGCCCCA others(431): Show AGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCTTCAGACC CAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGACCCAGGAGTCCAGGC CCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGTCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTCCCTCAGACCCAGGAG CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAG CCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCA GACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03471.hp1 NA20300.hp1 HG03453.hp1 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0048 a0001c0001t0022g0050 a0001c0001t0022g0051 a0001c0001t0022g0048 a0001c0001t0022g0050 a0001c0001t0022g0051	3	394	0.0076	438	c.82 others(449): Show c.8229_*8230insGGCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCTTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCACCTTCAGA CCCAGGAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGG CCCCAGTCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCAGGCCTTCCTC CCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAG		CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding					864		chr19	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(431): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTATATAAAATATATATTATATTATATATAATATATATTTTA TAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	288	0.0035	438	c.154 others(457): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT TTATAAAATATATATTATATTATATAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATTATATAAT ATATATTATATA		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(431): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCCTCCCTCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	256	0.0039	438	c.-45 others(459): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCCT CCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(431): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	256	0.0039	438	c.-45 others(459): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(431): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	258	0.0039	438	c.403 others(453): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(431): Show AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGA GAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAGGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0172 a0003c0006t0002g0172	1	258	0.0039	438	c.403 others(453): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CFAP61_chr20_20047532_20365698	20357482	G G	GGTGGTCA others(431): Show GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTG GTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp1 HG02683.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0203 a0001c0001t0001g0082 a0001c0001t0001g0203	2	236	0.0085	438	c.351 others(457): Show c.3514-2700_3514-2699insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCAT ACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCACA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357913	C C	CTGAGGAG others(431): Show CTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0021 a0001c0006t0003g0021	1	236	0.0042	438	c.351 others(457): Show c.3514-2292_3514-2291insAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGG		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357972	G G	GTGAGGGG others(431): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG02280.hp1 others(11): Show HG00408.hp1 HG02056.hp2 HG02280.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp1 NA18947.hp2 NA18964.hp2 NA19007.hp2 NA19070.hp2	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0024c0044	a0001c0001t0001 a0001c0003t0004 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0004 a0001c0006t0001 a0002c0002t0001 a0024c0044t0001	a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0183 others(11): Show a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0003t0004g0015 a0001c0006t0001g0167 a0002c0002t0001g0041 a0002c0002t0001g0072 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0234 a0024c0044t0001g0058	14	236	0.0593	438	c.351 others(457): Show c.3514-2222_3514-2221insCACTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGT GAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACACTGAG GGGAGGTGGTCA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(431): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATAC GTGTGTATATACACGTATATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	372	0.0027	438	c.894 others(453): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATA		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(431): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTGTATATACACGTATATATACT CATATACGTGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	372	0.0027	438	c.894 others(453): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC ACGTATATGAGTATATATACGTGTATATACACACACGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATAT		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(431): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACGTGTATATATACTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	372	0.0027	438	c.894 others(453): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATA TACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACG		CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20						chr3	TogoVar
CNST_chr1_246561456_246673595	246620579	A A	ACTCTACA others(431): Show ACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGG GAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCT CTGGGAACACTACAGGGAGGACGGCTTCAGTCGTGGTGCACACACACGAT GGGCTCTGGGCACACTACAGGGAGGACGGCTTCAGTCGTGGTGCACACAC ACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAGTCGTGCAT ACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGT GGTGCACACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCA GTCGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTT CAGTCGTGGTGCACACACACGATGGGCTCTGGGCACACT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp1 HG02622.hp1 HG03486.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0015 a0008c0011t0015 a0002c0002t0015 a0008c0011t0015	a0002c0002t0015g0168 a0008c0011t0015g0213 a0002c0002t0015g0168 a0008c0011t0015g0213	2	320	0.0063	438	c.380 others(453): Show c.380-848_380-847insCTACAGGGAGGACGGCTTCAGTCGTGCATA CACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTG CATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCAGTCG TGGTGCACACACACGATGGGCTCTGGGCACACTACAGGGAGGACGGCTTC AGTCGTGGTGCACACACACGATGGGCTCTGGGCACACTCTACAGGGAGGA CGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGG AGGACGGCTTCAGTCGTGGTGCACACACACGATGGGCTCTGGGAACACTA CAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGAACAC TACAGGGAGGACGGCTTCAGTCGTGGTGCACACACACGATGGGCTCTGGG CACACTCT		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	148331528	G G	GACGGATG others(431): Show GACGGATGGAGTGGATGGATGGAATGGATGGATGGAATGGATGGATGGAA TGGACGGATGGAGTCGATGGATGGAGTGGACGGATGGAATGGACGGATGG AGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGAT GGAGTGGACGGATGGAGTGGATGGATGGAATGGACGGATGGATTGGATGG ATGGAGTGGATGGATGGAACGGACGGATGGAGTGGATGGATGGAATGGTC AGATGGAGTGGATGGATAGAGTGGATGGATGGAACGGACGGATGGAATGG ACAGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGT GGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGA ATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02717.hp2 others(9): Show HG02451.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 NA19030.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0004t0003 a0001c0005t0008 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0002c0016t0004 a0002c0017t0015	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0007 others(9): Show a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0002c0016t0004g0024 a0002c0017t0015g0037	12	40	0.3000	438	c.347 others(459): Show c.3476-52120_3476-52119insCGGATGGAGTGGATGGATGGAATG GATGGATGGAATGGATGGATGGAATGGACGGATGGAGTCGATGGATGGAG TGGACGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGG AATGGACGGATGGAGTGGATGGATGGAGTGGACGGATGGAGTGGATGGAT GGAATGGACGGATGGATTGGATGGATGGAGTGGATGGATGGAACGGACGG ATGGAGTGGATGGATGGAATGGTCAGATGGAGTGGATGGATAGAGTGGAT GGATGGAACGGACGGATGGAATGGACAGATGGAGTGGATGGATGGAATGG ACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGT GGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGA GTGGATGGATGGAA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331528	G G	GACGGATG others(431): Show GACGGATGGAGTGGATGGATGGAATGGATGGATGGAATGGATGGATGGAA TGGACGGATGGAGTCGATGGATGGAGTGGACGGATGGAATGGACGGATGG AGTGGATGGATGGAGTGGATGGATGGAGTGGACGGATGGAGTGGATGGAT GGAGTGGACGGATGGAGTGGATGGATGGAATGGACGGATGGATTGGATGG ATGGAGTGGATGGATGGAACGGACGGATGGAGTGGATGGATGGAATGGTC AGATGGAGTGGATGGATAGAGTGGATGGATGGAACGGACGGATGGAATGG ACAGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGT GGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGA ATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0030 a0001c0003t0023g0030	1	40	0.0250	438	c.347 others(459): Show c.3476-52120_3476-52119insCGGATGGAGTGGATGGATGGAATG GATGGATGGAATGGATGGATGGAATGGACGGATGGAGTCGATGGATGGAG TGGACGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGG AGTGGACGGATGGAGTGGATGGATGGAGTGGACGGATGGAGTGGATGGAT GGAATGGACGGATGGATTGGATGGATGGAGTGGATGGATGGAACGGACGG ATGGAGTGGATGGATGGAATGGTCAGATGGAGTGGATGGATAGAGTGGAT GGATGGAACGGACGGATGGAATGGACAGATGGAGTGGATGGATGGAATGG ACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGT GGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGA GTGGATGGATGGAA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL23A1_chr5_178232618_178595393	178585607	C C	CACGTCCC others(431): Show CACGTCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGTTGATGCT GGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGC CCTGGTTGACGCTGGAGTAACACTCCACAGCCCTGGATGACGCTGGAGTA ACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGA TGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCTGGGGGTAACACT CCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGC TGGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGTAACACTCCACAG CCCTGTATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGT AATGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0146 a0002c0003t0005g0146	1	236	0.0042	438	c.294 others(455): Show c.294+4296_294+4297insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGC GCCATACAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGACGTGGAG TGTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTACCCCAGCGCCATC CAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTA CCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGG CTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACTCCAG CGTCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGA GTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCAT CCAGGGACGT		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585607	C C	CACGTCCC others(431): Show CACGTCCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGTTGATGCT GGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACGTC CCTGGTTGATGCTGGAGTAACACTCCACAGCCCTGGATGACGCTGGAGTA ACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGA TGACGCTGGAGTAACACTCCACGTCCCTGGATGACGCTGGAGTAACACTC CACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGC TGGAGTAACACTCCACAGCCCTGGATGACGCTGGAGTAACACTCCACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AACACTCCACAGCCCTGGTTGATGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG06807.hp2 others(1): Show HG01884.hp1 HG02647.hp2 HG06807.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 others(1): Show a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0002c0003t0002g0211	4	236	0.0170	438	c.294 others(455): Show c.294+4296_294+4297insAGGGCATTACCCCAGCATCAACCAGGGC TGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAG CATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGA GTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAA CCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGACGTGGAGTGTTA CTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGG CTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACTCCAG CATCAACCAGGGACGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGA GTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCAT CCAGGGACGT		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28						chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(431): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0124 a0001c0007t0001g0124	1	344	0.0029	438	c.85- others(455): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL5A1_chr9_134636803_134849843	134729545	C C	CGGGTGTG others(431): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0233 a0001c0001t0009g0233	1	272	0.0037	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCGGGCAGGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(431): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCATGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	272	0.0037	438	c.925 others(453): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCATGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729648	A A	ATGCGGGC others(431): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGGGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0248	1	272	0.0037	438	c.925 others(453): Show c.925-533_925-532insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGGGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729816	A A	ATGCGGGC others(431): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGT GCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GCGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01257.hp1 others(4): Show HG00423.hp2 HG00741.hp2 HG01257.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 NA19079.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0004c0067 a0007c0037	a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0004t0002 a0004c0067t0001 a0007c0037t0001	a0001c0001t0002g0111 a0001c0001t0002g0245 a0001c0001t0005g0119 others(4): Show a0001c0001t0002g0111 a0001c0001t0002g0245 a0001c0001t0005g0119 a0001c0003t0001g0123 a0001c0004t0002g0228 a0004c0067t0001g0094 a0007c0037t0001g0057	7	272	0.0257	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729816	A A	ATGCGGGC others(431): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGT GCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GCGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGTGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	272	0.0037	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGTGTGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729825	C C	CGGGTGTG others(431): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0268 a0001c0015t0001g0268	1	272	0.0037	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCAGGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729825	C C	CGGGTGTG others(431): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TTTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02895.hp2 HG00099.hp1 HG02895.hp2	a0001 a0001	a0001c0015 a0001c0048 a0001c0015 a0001c0048	a0001c0015t0002 a0001c0048t0012 a0001c0015t0002 a0001c0048t0012	a0001c0015t0002g0054 a0001c0048t0012g0226 a0001c0015t0002g0054 a0001c0048t0012g0226	2	272	0.0074	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTTTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCAGGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729825	C C	CGGGTGTG others(431): Show CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TTTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCGTGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0044 a0001c0007t0014g0044	1	272	0.0037	438	c.925 others(453): Show c.925-376_925-375insAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTTTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCGTGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCAGGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(431): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCC CCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCC ATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCAT CCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCC ACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCAT CCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCC ATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCAC CCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	348	0.0029	438	c.13 others(449): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACC CACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACC CATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCC CCCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924427	G G	GTCCCCAC others(431): Show GTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCTCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCC CACACTAACCCTAACCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18966.hp1 NA18747.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0140 a0001c0001t0003g0141	2	350	0.0057	438	c.489 others(455): Show c.489-1297_489-1296insTCCCCACACTAACCCAGCCCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCTCACACTAACCCAGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCACACTGACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(431): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	438	c.416 others(459): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCA CATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar

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