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
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(489): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18970.hp2 NA18945.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	225	0.0089	496	c.-10 others(507): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTT ATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ADAP1_chr7_892900_959680	906503	G G	GGAGAAAG others(489): Show GGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGA AAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAG GAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGA GAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGA AAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAG GAGAAAGGAGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAGGAGAA AGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGAAAG GAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	5	0.2000	496	c.389 others(513): Show c.389-1332_389-1331insTTTCTCCTTTCTCCTTTCTCCTTTCTCC TTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCTCCTTTCT CCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCT TTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTT CCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCT CCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCT TTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTC CTTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCT TTCCCTTTCTCCTTTCTC		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADGRE5_chr19_14376444_14413723	14377650	A A	AATACTTA others(489): Show AATACTTATTATACATAATAATTATATTATATAATTATTATACATAATAA TTATATTATATAATACTTATTATACATAATAATTATATTATATAATTATT ATACATAATAATTATATTATATAATTATTATACATAATAATTATATTATA TAATTATTATACATAATAATTATATTATATAATTATTATACATAATAATT ATATTATATAATTATTATACATAATAATTATATTATATAATTATTATACA TAATAATTATATTATATAATTATTATACATAATAATTATATTATATAATT ATTATACATAATAATTATATTATATAATTATTATACATAATAATTATATT ATATAATTATTATACATAATAATTATATTATATAATTATTATACATAATA ATTATATTATATAATTATTATACATAATAATTATATTATATAATTATTAT ACATAATAATTATATTATATAATTATTATACATAATAATTATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	260	0.0038	496	c.-38 others(507): Show c.-3874_-3873insATACTTATTATACATAATAATTATATTATATAAT TATTATACATAATAATTATATTATATAATACTTATTATACATAATAATTA TATTATATAATTATTATACATAATAATTATATTATATAATTATTATACAT AATAATTATATTATATAATTATTATACATAATAATTATATTATATAATTA TTATACATAATAATTATATTATATAATTATTATACATAATAATTATATTA TATAATTATTATACATAATAATTATATTATATAATTATTATACATAATAA TTATATTATATAATTATTATACATAATAATTATATTATATAATTATTATA CATAATAATTATATTATATAATTATTATACATAATAATTATATTATATAA TTATTATACATAATAATTATATTATATAATTATTATACATAATAATTATA TTATATAATTATTATACATAATAATTATATTATATAATTATTATACATAA TAATTATATTAT		ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding					3793		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(489): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACACGTATATACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18960.hp1 HG01978.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0063 a0001c0001t0033 a0001c0001t0063	a0001c0001t0033g0169 a0001c0001t0063g0024 a0001c0001t0033g0169 a0001c0001t0063g0024	2	113	0.0177	496	c.48- others(513): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC ACGTATATACGTATACGT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATATACA others(489): Show TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATATA TACGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATA CACGTATACGTGTACACACACATACACGTATACGTGTACACACACATACA CGTCTACGTGTACACACACATACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	63	0.0159	496	c.48- others(513): Show c.48-70583_48-70582insTATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACACGTATATA TACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACGTATATATACGTATACGTGTACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACATACACGTATATACG TATACGTGTACACACACATACACGTATACGTGTACACACACATACACGTA TACGTGTACACACACATACACGTCTACGTGTACACACACATACACGTCTA CGTGTACACACATATACA		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AHNAK2_chr14_104932253_104983374	104948543	T T	TCCCCCTC others(489): Show TCCCCCTCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTC CACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCA CCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGG CCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGG CAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTT TCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGA ATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAC GTCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACT TGCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTG AACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02615.hp2 HG02615.hp2	a0072 a0072	a0072c0044 a0072c0044	a0072c0044t0003 a0072c0044t0003	a0072c0044t0003g0109 a0072c0044t0003g0109	1	354	0.0028	496	c.690 others(505): Show c.6907_6908insGACATGTCCCTGGCCGACAAGGACGTGACTGCCAAA GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCTGTCGTTTGGGGTGTC TGCCCTTGGCAAGTCCATCGAGGCCTCAGCGGATGTGTCTGCGTTGAAGG TGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACT GACCTCAGCATTCAGCCCCTTTCCGCCGACGTGAAGGTCCAGGCTGGCCA GGTGGACGTGAAACTCCTGGAGGGCCCTGTGCCCGAGGAAGTCGGCCTCA AAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAGGTGCCCAAAGTG GACCTCAAGGGCCCCGAAATAGACATCAAGGGCCCCAAGCTGGACCTAAA AGACCCCAAGGTGGAAGTGACAGCCCCTGATGTGGAGGTGTCTCTGCCCA GCGTGGAGGTGGACGTCAAGGCCCCAGGAGCCAAGCTGGATGGTGCGCGG CTGGAGGGGG	p.Asp others(6): Show p.Asp2303fs	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7044/18335	6907/17388	2303/5795			chr14	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(489): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGG AGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGGGAGGA GGAGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGAG GGGGAGGGGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA GGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	183	0.0055	496	c.125 others(517): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCC TCCTCCTCCCCCTCCCCCTCCCCCTCCTCCCCCCCCCTCCCCCTCCCCCT CCCCCCCTCCCCCCTCCCCCTCCTCCTCCCCCCCTCCCCCCCTCCCCCCC TCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTC CCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCT CCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCC TCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCT CCCCTCCCCTCCCCTCCTCCCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(489): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAGGA GGGGGGGGGAGGAGGGGGGGGGAGGGGGGAGGAGGAGGGGGGGAGGAGGG GGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGGAGGGGGAGGGGGAGGGGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	119	0.0084	496	c.125 others(517): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCC CCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTC CTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCC TCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCT CCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTT CTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCT CCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTT CTCCCCTCCCCTCCCCTCCTCC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(489): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGG AAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGG AGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	137	0.0073	496	c.248 others(511): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCC CCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCC TCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCACCTTCCCCTCCCCT CCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCACCCAT CCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCC CACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCC CCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCC TCCTCCCCCTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ARHGAP19_chr10_97217179_97297637	97251398	G G	GGAAAGGA others(489): Show GGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGACGGGGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAA GGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAA GAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGA GGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGG AAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	238	0.0042	496	c.927 others(513): Show c.927+4919_927+4920insATTCCCCTTTCCTTTCCCTCCCCCTTCC CCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCC CTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTT CCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTC CCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTT CCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCT TCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCT TCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTC CTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCGTCTCCTCCCCTTCCCCT TCCCTTCCCCTTCCTTTC		ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11						chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1839476	T T	TGGTGTGG others(489): Show TGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTCGGGACAGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGCACTGTCTGGTGT GGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGG GGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCTGGTGTGGGGACTGTCTTGTGTGGGGACTGTCTTGTGTGGGGAC TGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTATGGTGTGGGGACTG TATGGTGTGGGGACTGTATGGTGTGGGGACTGTCTAGTGTGGGGACTGTC CGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGCGCTGTCTG GTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19057.hp1 NA19000.hp2 NA19057.hp1	a0001 a0001	a0001c0115 a0001c0118 a0001c0115 a0001c0118	a0001c0115t0004 a0001c0118t0009 a0001c0115t0004 a0001c0118t0009	a0001c0115t0004g0281 a0001c0118t0009g0290 a0001c0115t0004g0281 a0001c0118t0009g0290	2	360	0.0056	496	c.-47 others(513): Show c.-47-3870_-47-3869insGCACTGTCTGGTGTGGGGACTGTCCGGT GTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGT CGGGACAGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGG GCACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTGTGGGG ACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGC TGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTTGTGTGGGGACTG TCTTGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTA TGGTGTGGGGACTGTATGGTGTGGGGACTGTATGGTGTGGGGACTGTCTA GTGTGGGGACTGTCCGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGT GTGGGCGCTGTCTGGTGTGGGCACTGTCTGGTGTGGGGACTGTCCGGTGT GGGGACTGTCCGGTGTGG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTTTATAT others(489): Show GTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATATA TACTATATATATAGTTTATATATATATACTATATATAGTTTATATATATA TACTATATATAGTATATATATACTATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATACTATATATATAGTTTAT ATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATATACTATATATATAGTATATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATATACTATA TATATAGTTTATATATATATATATACTATATATATAGTTTATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATACTATATATATTTTATATATATATATACTATATATATAGTTTATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	87	0.0115	496	c.331 others(515): Show c.3314-1171_3314-1170insTATAAACTATATATATAGTATATATA TATATAAAATATATATAGTATATATATATAAACTATATATATAGTATATA TATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATA TATATATATATAAACTATATATATAGTATATATATATATAAACTATATAT ATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATACT ATATATATAGTATATATATATATAAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATAAACTATATATATAGTATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATAGT ATATATATACTATATATAGTATATATATATAAACTATATATAGTATATAT ATATAAACTATATATATAGTATATATAAACTATATATATAGTATATATAT ATAAACTATATATATATAAA		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
ATP9B_chr18_79064394_79383283	79336043	A A	ATGCCCTC others(489): Show ATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	280	0.0036	496	c.202 others(513): Show c.2029-566_2029-565insCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGG		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(489): Show ACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCT GGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0244 a0002c0005t0001g0244	1	243	0.0041	496	c.202 others(513): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACC AGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCC CTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336104	C C	CGTGCCCT others(489): Show CGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0291 a0001c0006t0004g0291	1	292	0.0034	496	c.202 others(513): Show c.2029-524_2029-523insGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCA GGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCC TCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCT		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29						chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(489): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCG CTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCC TGGCACCAGGCGCTCCCCTCGCCTGTCCCCAGCACCGCCGTGTGCACCCT CCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	277	0.0036	496	c.202 others(513): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCTGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACC AGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCC CTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(489): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	232	0.0043	496	c.202 others(513): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC CATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(489): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03669.hp1 HG01109.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0062 a0001c0001t0001g0064	2	233	0.0086	496	c.202 others(513): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(489): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	232	0.0043	496	c.202 others(513): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCC		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	375110	A A	AAGGGAGG others(489): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	169	0.0059	496	c.784 others(511): Show c.784-295_784-294insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(489): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCC CCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	248	0.0040	496	c.144 others(513): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCGCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGTGGGGCTGATCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCAGC		C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(489): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00673.hp2 others(37): Show HG00140.hp2 HG00408.hp1 HG00673.hp2 HG01069.hp1 HG01123.hp2 HG01168.hp2 HG02027.hp2 HG02083.hp2 HG02165.hp1 HG02602.hp1 HG02602.hp2 HG03490.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18961.hp2 NA18971.hp1 NA18972.hp1 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18999.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2	a0002 a0010 a0016 others(3): Show a0002 a0010 a0016 a0030 a0038 a0047	a0002c0002 a0010c0009 a0016c0019 others(3): Show a0002c0002 a0010c0009 a0016c0019 a0030c0031 a0038c0054 a0047c0036	a0002c0002t0001 a0010c0009t0001 a0016c0019t0001 others(3): Show a0002c0002t0001 a0010c0009t0001 a0016c0019t0001 a0030c0031t0001 a0038c0054t0001 a0047c0036t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0018 others(32): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0018 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0232 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0001g0288 a0010c0009t0001g0238 a0010c0009t0001g0241 a0010c0009t0001g0273 a0010c0009t0001g0274 a0016c0019t0001g0264 a0030c0031t0001g0221 a0038c0054t0001g0282 a0047c0036t0001g0256	40	287	0.1394	496	c.144 others(513): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCGCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCAGC		C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(489): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACACATGTGTATACATATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	282	0.0035	496	c.366 others(513): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TCTGTATACATATGTATACAGATATGTATACACATGTGTATACAGATATG TATACATATGTATACAGATATGTATACAGATATGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATATGTATACACATATGTATATA CAGATATGTATACACATATGTATATACAGATATGTATACACATATGTATA CAGATATGTATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATATACATATGTATACAGATATGTATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATATACAGATATGTATACAGATATG TATATACAGATATGTATA		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(489): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	282	0.0035	496	c.366 others(513): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATCTGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TCTGTATACATATGTATACAGATCTGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATACAGATATGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATATGTATACACATATGTATATA CAGATATGTATACACATATGTATATACAGATATGTATACACATATGTATA CAGATATGTATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATATACATATGTATACAGATATGTATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATATACAGATATGTATACAGATATG TATATACAGATATGTATA		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(489): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	282	0.0035	496	c.366 others(513): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TCTGTATACATATGTATACAGATCTGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATACAGATATGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATATGTATACACATATGTATATA CAGATATGTATACACATATGTATATACAGATATGTATACACATATGTATA CAGATATGTATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATATACATATGTATACAGATATGTATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATATACAGATATGTATACAGATATG TATATACAGATATGTATA		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(489): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACATATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	282	0.0035	496	c.366 others(513): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACACATATGTATACA GATCTGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATACAGATATGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATATGTATACACATATGTATATA CAGATATGTATACACATATGTATATACAGATATGTATACACATATGTATA CAGATATGTATACATATGTATACAGATATGTATATACATATGTATACAGA TATGTATATACATATGTATACAGATATGTATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATATACAGATATGTATACAGATATG TATATACAGATATGTATA		C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8						chr2	TogoVar
CACNA1C_chr12_2047987_2702950	2280674	A A	ACTTTGCT others(489): Show ACTTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTT TAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGC TGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTC TTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACTTTGCTGTGCTT CGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATAC CTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTA ACCTCTTGATACTTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTG TGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTT GATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCG GTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0033 a0001c0008t0033	a0001c0008t0033g0080 a0001c0008t0033g0080	1	103	0.0097	496	c.477 others(517): Show c.477+160245_477+160246insTTTGCTGTGCTTCGGTTTAACCTC TTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTT CGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATAC CTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTA ACCTCTTGATACTTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTG TGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTT GATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACTTTGCTGTGCTTCG GTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCT TGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAAC CTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTG CTTCGGTTTAACCTCTTGATGC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2280705	A A	ACCTTGCT others(489): Show ACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTT TAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGC TGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTC TTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTT CGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATAC CTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTA ACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTG TGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTT GATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCG GTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0020 a0001c0033t0020	a0001c0033t0020g0075 a0001c0033t0020g0075	1	102	0.0098	496	c.477 others(517): Show c.477+160365_477+160366insATACCTTGCTGTGCTTCGGTTTAA CCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGT GCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTG ATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGG TTTAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTT GCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACC TCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGC TTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGAT GCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGC TGTGCTTCGGTTTAACCTCTTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2280736	A A	ACCTTGCT others(489): Show ACCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGC TGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTC TTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTT CGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGC CTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTA ACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTG TGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTT GATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCG GTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0037 a0001c0001t0043g0037	1	104	0.0096	496	c.477 others(517): Show c.477+160336_477+160337insGCCTTGCTGTGCTTCGGTTTAACC TCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGC TTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGAT GCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGC TGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTC TTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTT CGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGC CTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTA ACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTG TGCTTCGGTTTAACCTCTTGAT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2280767	A A	ACCTTGCT others(489): Show ACCTTGCTGTGCTTCGGTTTAACCTCTTGATACCTTGCTGTGCTTCGGTT TAACCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGC TGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTC TTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTT CGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGC CTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTA ACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTG TGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTT GATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCG GTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	103	0.0097	496	c.477 others(517): Show c.477+160365_477+160366insATACCTTGCTGTGCTTCGGTTTAA CCTCTTGATACCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGT GCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTG ATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGG TTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTT GCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACC TCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGC TTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGAT GCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGC TGTGCTTCGGTTTAACCTCTTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1I_chr22_39565753_39694735	39596230	G G	GGGGGCAG others(489): Show GGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGG CAGGGCGGAGGGAGATGGGGGGCAGGGTGGAGAGAGATGGGGGGGCAGGG CGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGACGGAGGGAGATGGG GGAGCAGGACGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCA GGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGAT GGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGG AGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGAGCA GGGTGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCG GAGGGAGATGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGA TGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02895.hp1 HG01891.hp2 HG02630.hp2 HG02895.hp1	a0001 a0003 a0001 a0003	a0001c0027 a0003c0005 a0001c0027 a0003c0005	a0001c0027t0015 a0003c0005t0005 a0003c0005t0008 a0001c0027t0015 a0003c0005t0005 a0003c0005t0008	a0001c0027t0015g0136 a0003c0005t0005g0170 a0003c0005t0008g0171 a0001c0027t0015g0136 a0003c0005t0005g0170 a0003c0005t0008g0171	3	233	0.0129	496	c.237 others(513): Show c.237-1919_237-1918insGGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGTGGA GAGAGATGGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAG CAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCA GGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGC GGAGGGAGATGGGGGAGCAGGGTGGAGAGAGATGGGGGAGCAGGGTGGAG GGAGATGGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGATGGG GGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGG CAGGGCGGAGAGAGATGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(489): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCT TCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCC TCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	99	0.0101	496	c.244 others(515): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG ACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72209430	C C	CTCTTTCC others(489): Show CTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCT CTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	112	0.0089	496	c.244 others(515): Show c.244+69255_244+69256insAAGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAGGGAAGGAAAGA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(489): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTTGTGGGGCTGGGGAGGGTTGGG GTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGT GTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGG GCTGGGGAGGGGTGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGGTGGGGTGTGGGAG GGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAGGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	4	0.2500	496	c.712 others(513): Show c.712-2416_712-2415insCCCACCCACCCCTCCCCCACCCCACCCC CTCCCACCCCTCCCCACCCCTCCCACACCCCACCCCACCCCACCCCACCC CTCCCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCT CCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTC CTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTC CCACCCACCCCTCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCCA CCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGC CCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCC CAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACAACACCCTTC CCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCAC CCCACCCCCTCCCACCCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11						chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882453	C C	CGGGAGAA others(489): Show CGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	140	0.0071	496	c.303 others(515): Show c.303+23668_303+23669insCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCTGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCC TGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCC		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CDH8_chr16_61642250_62041438	61960258	T T	TACATATA others(489): Show TACATATATACATATGTGTGTGTATGCACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATATGTGTGTGTATACACACACATATGTATATATGTATGTGTATA CACACACATATATGTATATATGTATGTGCATACACACACACATGTATATA TGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACA TATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTG TGTATACACATACATATATACATATGTGTGTATACACACATATATACATA TGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATA TACATATGTGTGTATACACATACATATATACATATGTGTGTATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	152	0.0066	496	c.253 others(515): Show c.253-58786_253-58785insGTGTATACACACATATGTATATATGT ATGTGTATACACACATATGTATATATGTGTGTATACACACACATATGTAT ATATGTATGTGTATACACACATATGTATATATGTGTGTATACACACATAT GTATATATGTATGTGTATACACACACATATATGTATATGTGTATGTGCAT ACACACACACACATGTATATATGTATGTGTATACACACACATATGTATAT ATGTATGTGTATACACATACATATATACATGTGTGTGTGTATGCACATAC ATATATACATATATGTGTGTGTATACACATACATATATACATATGTGTGT GTATACACACACATATGTATATATGTGTGTATACACACACATATGTATAT ATGTATGTGTATACACACATATGTATATATGTGTGTATACACACATATGT ATATATGTATGTGTATACACACACACATATGTATATATGTATGTGCATAC ACACACATATGTATATATGT		CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11						chr16	TogoVar
CDH8_chr16_61642250_62041438	61960348	T T	TATGTGTG others(489): Show TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATATGTGTGTGTATACACACACACACATGTATATATGTATGTGTA TACACACACATATATGTATATATGTATGTGCATACACACACACACATGTA TATATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACA TACATATATACATGTGTGTGTGTGTATGCACATACACATATACATATATG TGTGTGTATACACATACATATATACATATGTGTGTATACACACATATATA CATATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACA TATATACATATGTGTGTATACACATACATATATACATATGTGTGTATACA CACATATATACATGTGTGTGTATACACATACATATATACATGTGTGTGTA TACACATACATATATACATGTGTGTGTGTATACACATACATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0030 a0001c0001t0050g0030	1	148	0.0068	496	c.253 others(515): Show c.253-58876_253-58875insGTATATATGTATGTGTATACACACAC ACATGTATATATGTATGTGTATACACACACATGTATATATGTATGTGTAT ACACACACATGTATATATGTGTGTATACACACATATGTATATATGTATGT GTATACACACATATGTATATATGTGTGTATACACACACATATGTATATAT GTATGTGTATACACACATATGTATATATGTGTGTATACACACATATGTAT ATATGTATGTGTATACACACACATATATGTATATGTGTATGTGCATACAC ACACACACATGTATATATGTATGTGTATACACACACATATGTATATATGT ATGTGTATACACATACATATATACATGTGTGTGTGTGTATGCACATACAT ATATACATATATGTGTGTGTATACACATACATATATACATGTGTGTGTGT GTATACACACACATATGTATATATGTGTGTATACACACACATATGTATAT ATGTATGTGTATACACACAT		CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11						chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(489): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG03688.hp1 others(1): Show HG02886.hp2 HG02922.hp2 HG03688.hp1 NA18990.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0023	a0001c0071 a0004c0006 a0005c0053 others(1): Show a0001c0071 a0004c0006 a0005c0053 a0023c0050	a0001c0071t0073 a0004c0006t0004 a0005c0053t0025 others(1): Show a0001c0071t0073 a0004c0006t0004 a0005c0053t0025 a0023c0050t0057	a0001c0071t0073g0251 a0004c0006t0004g0187 a0005c0053t0025g0212 others(1): Show a0001c0071t0073g0251 a0004c0006t0004g0187 a0005c0053t0025g0212 a0023c0050t0057g0031	4	69	0.0580	496	c.-25 others(507): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(489): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	66	0.0152	496	c.-25 others(507): Show c.-2517_-2516insCACCTCTTAATACTACCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(489): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	66	0.0152	496	c.-25 others(507): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(489): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	66	0.0152	496	c.-25 others(507): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(489): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0049 a0001c0004t0003g0049	1	66	0.0152	496	c.-25 others(507): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065066	A A	ATAGTATT others(489): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATGGTATTAAGA GGTGATGGTATTAAGAGGTGATGGTATTAAGAGGTGATGGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0034 a0009c0016t0034	a0009c0016t0034g0267 a0009c0016t0034g0267	1	329	0.0030	496	c.-25 others(507): Show c.-2550_-2549insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACCATCACCTCTTAATACCATCACCTCT TAATACCATCACCTCTTAATACCATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2201		chr11	TogoVar
CDON_chr11_125951821_126067866	126065146	A A	ATAGTATT others(489): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0016 a0016	a0016c0068 a0016c0068	a0016c0068t0021 a0016c0068t0021	a0016c0068t0021g0089 a0016c0068t0021g0089	1	326	0.0031	496	c.-26 others(507): Show c.-2630_-2629insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2281		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(489): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0090 a0002c0002t0090	a0002c0002t0090g0261 a0002c0002t0090g0261	1	315	0.0032	496	c.-26 others(507): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2329		chr11	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(489): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCC TCCCTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03239.hp1 HG01175.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0094 a0001c0004t0001g0091 a0001c0002t0001g0094 a0001c0004t0001g0091	2	3	0.6667	496	c.75- others(513): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCC TCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCC CTCCCTCTTCCCCCCCCC		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(489): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGGTGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGGTGGGTGGATGGATGAATGAATGGATGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp1 HG01261.hp1 others(15): Show HG01106.hp1 HG01123.hp1 HG01261.hp1 HG01978.hp1 HG02132.hp1 HG02165.hp2 HG02300.hp2 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG03195.hp2 HG03486.hp2 HG06807.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp2 NA19067.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0003t0002 a0001c0010t0005	a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0069 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0197 a0001c0001t0001g0257 a0001c0001t0002g0011 a0001c0001t0002g0106 a0001c0001t0002g0251 a0001c0001t0003g0064 a0001c0001t0003g0111 a0001c0001t0005g0249 a0001c0001t0006g0250 a0001c0001t0008g0118 a0001c0001t0009g0088 a0001c0003t0002g0248 a0001c0010t0005g0252	18	145	0.1241	496	c.259 others(515): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGA GTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATG GGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAA TTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGT GAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGG ATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAAT AGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGATGGAT GAATGAATGGATGGGTGGAT		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(489): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	411	0.0024	496	c.12 others(507): Show c.1273_*1274insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATAT ATAGATGTATCTATATAGATGTATCTATATATCTATATAGATGTATCTAT ATATCTATATAGATGTATCTATATATCATCTATATAGATTATATATCTAT ATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATATAGAT GCATCTATATAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					375		chr13	TogoVar
CHTF18_chr16_783620_803074	795445	C C	CCCCCTGT others(489): Show CCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCC AAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCTCCCGTGCT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCTCCCGTGCTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCCCTCCCGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCCTCCCGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCT TCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTC TCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0046 a0046	a0046c0053 a0046c0053	a0046c0053t0001 a0046c0053t0001	a0046c0053t0001g0234 a0046c0053t0001g0234	1	332	0.0030	496	c.217 others(511): Show c.2175+93_2175+94insTGTGCTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCTCCCGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCTCC CGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCTCCCGTGCTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCTCCCGTGCTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCTCCA others(489): Show TCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTTCC TCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	202	0.0050	496	c.-42 others(507): Show c.-4266_-4265insCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTC CACCTCCCCTCC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3983		chr19	TogoVar

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