Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(480): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCCTCCCCCATCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTC CTCCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCC TCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCC CCTCACCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0014 a0003c0007t0014	a0003c0007t0014g0009 a0003c0007t0014g0009	1	33	0.0303	487	c.53- others(500): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCCTCCCCCATCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCTCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCCCCTCCCC TCCCCCTCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCT CCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCC TCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCC TCTCCCCCTCACCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTC CCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(480): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	33	0.0303	487	c.53- others(500): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTC CCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(480): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATATATACATGTGTATATATGTGTATATATACACATATATACATGTA TATATATATACGTATATATACATATATACGTATATATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATATACGTATATACACATATATATACATGTATATATATATATG TGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	212	0.0047	487	c.-42 others(498): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATATATACATGTGTATATATGTGTATATATAC ACATATATACATGTATATATATATACGTATATATACATATATACGTATAT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATATACGTATATACACATATATATACAT GTATATATATATATGTGTATATATACATGTATATATACATATATATACAT GTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(481): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATA AATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0005 a0001c0002t0019g0005	1	219	0.0046	488	c.130 others(507): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATAT AAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172047	A A	AGTGGGAT others(481): Show AGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGATAAATGAATGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAAT GGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGAGT GGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAG GTGGGATGGATAAATGAGTGGGTGGGATAGATAAATGAGGGGGTGGGATG GATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTG GGTGGGATGGCTAAATGAGTGGGTGGGATGGATGGATAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01516.hp1 HG01517.hp2 HG00323.hp1 HG01516.hp1 HG01517.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0046 a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0046	3	260	0.0115	488	c.278 others(507): Show c.2787+1236_2787+1237insCCACTCATTTATCCATCCCACCCACT CATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCATT TAGCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCAC CCCCTCATTTATCCATCCCACCCCCTCATTTATCTATCCCACCCACTCAT TTATCCATCCCACCTCATTTATGCATCCCACCCACTCATTTATGCATCCC ACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACCC ATTTATCCATCCCACTCACTCATTTATGCATCCCACCCACTCATTTATCC ATCCCACCCACCCATTTATCCATCCCACTCACTCATTTATGCATCCCACC CATTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATT TATCCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289053	T T	TCCCCCGT others(481): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCATCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	273	0.0037	488	c.45 others(499): Show c.4510_*4511insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGGGCAGG GACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGGGACGGGGCAGAGACACGGGGGATGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGGGACACGGGACGGAGCAGGGACACGGGGGACGGGGCAGAGACACG GGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3337		chr1	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(481): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATATATACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0046 a0001c0001t0006g0046	1	112	0.0089	488	c.48- others(505): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACACACATAT ACACGTATACGTATACGTGTACACACATATACACGTATATACGTATACGT GTACACACATATACACGTATATACGTATACGTGTACACACATATACACGT ATATACGTATACGTGTACACACATATATATACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACACGTATAT ACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(481): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACACGTA TACGTATACACACATATACACGTATACGTATACACACATATACACGTATA CGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	112	0.0089	488	c.48- others(505): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACACGTATACGTATACACACATATACACGTATACGTATACACACATATAC ACGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACACGTATAT ACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529659	T T	TATATATA others(481): Show TATATATATAGAATATATATTCTATATATATATAGAATATATATTCTATA TATATAGAATATATATACTATATATATTCTATATATAGAATATATATAGA ATATATATTCTATATATATATAGAATATATATACTATATATATTGTATAT ATATTCTATATATAGAATATATATACTATATATATTGTATATATATTCTA TATATACAATATATATAGTATATATATTGTATATATAGAATATATATAGA ATATATATAGTATATATATTCTATATATAGAATATATATAGTATATATAT TCTATATATAGAATATATATAGAATATATATACTATATATATTCTATATA TAGTATATATATACTATATATAGAATATATATAGTATATATATTCTATAT ATATTCTATATATACAATATATATACTATATATATTCTATATATATTCTA TATATACAATATATATACTATATATATTCTATATATAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 HG02717.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0058 a0002c0002t0001g0059	2	231	0.0087	488	c.409 others(507): Show c.409+15112_409+15113insTCTATATATAGAATATATATAGTATA TATATTGTATATATAGAATATATATAGAATATATATAGTATATATATTGT ATATATAGAATATATATAGAATATATATACTATATATATTCTATATATAG TATATATATACTATATATAGAATATATATAGTATATATATTCTATATATA TTCTATATATAGAATATATATACTATATATATTCTATATATAGAATATAT ATACTATATATATTCTATATATATTCTATATATACAATATATATACTATA TATATTGTATATATAGAATATATATACAATATATATAGTATATATATTCT ATATATAGAATATATATACAATATATATAGTATATATATTCTATATATAT ATAGAATATATATTCTATATATATTCTATATATAGAATATATATAGTATA TATATTCTATATATATAGAATATATATTCTATATATATATAGAATATATA TTCTATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKAP6_chr14_32324298_32842684	32454777	T T	TTCCCTCC others(481): Show TTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCC CTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTT CCCTCCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCTCTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0042 a0003c0002t0042	a0003c0002t0042g0030 a0003c0002t0042g0030	1	150	0.0067	488	c.324 others(507): Show c.324+20987_324+20988insTTCCCTCCCTCCCTCCTTCCCTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCC TTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTCCCTCCTTCTCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCTCTCCTTCC CTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTT CCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(481): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGG GGGAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGG CGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	137	0.0073	488	c.248 others(503): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC ACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCC CTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCC CCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCT CACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCC CTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89412051	T T	TCTCCCAG others(481): Show TCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTCCCCTCAGCCAGCTACT GGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTCCCCTC AGCCAGCTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCA TCCCTCCCCTCAGCCAGGTACTGGGCTGAGATGCCTCCCAGAGTCTCCTG GCCGTGCCCCATCCCTCCCCTCAGCCAGGTACTGGGCTGAGATGCCTCCC AGAGTCTCCTGGCCGTGCCCCATCCCTCCCCTCAGCCAGGTACTGGGGTG AGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTCCCCTCAGCCAG GTACTGGGCTGAGATGCCTCCCAGAGTCTCCTGGCCGTGCCCCATCCCTC CCCTCAGCCAGGTACTGGGCTGAGATGTCTCCCAGAGTCTCCTGGCCGTG CCCCATCCCTCCCCTCAGCCAGCTACTGGGCTGAGATGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0298 a0003c0003t0001g0298	1	170	0.0059	488	c.-60 others(505): Show c.-60+6232_-60+6233insGCATCTCAGCCCAGTAGCTGGCTGAGGG GAGGGATGGGGCACGGCCAGGAGACTCTGGGAGACATCTCAGCCCAGTAC CTGGCTGAGGGGAGGGATGGGGCACGGCCAGGAGACTCTGGGAGGCATCT CAGCCCAGTACCTGGCTGAGGGGAGGGATGGGGCACGGCCAGGAGACTCT GGGAGGCATCTCACCCCAGTACCTGGCTGAGGGGAGGGATGGGGCACGGC CAGGAGACTCTGGGAGGCATCTCAGCCCAGTACCTGGCTGAGGGGAGGGA TGGGGCACGGCCAGGAGACTCTGGGAGGCATCTCAGCCCAGTACCTGGCT GAGGGGAGGGATGGGGCACGGCCAGGAGACTCTGGGAGGCATCTCAGCCC AGTAGCTGGCTGAGGGGAGGGATGGGGCACGGCCAGGAGACTCTGGGAGG CATCTCAGCCCAGTAGCTGGCTGAGGGGAGGGATGGGGCACGGCCAGGAG ACTCTGGGAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(481): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTT ATACATATATGTATAAATACGTACATATTTATACATATATGTATAAATAC ATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0062 a0001c0001t0071g0062	1	209	0.0048	488	c.39 others(497): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT AC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(481): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTT ATACATATATGTATAAATACGTACATATTTATACATATATGTATAAATAC ATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18963.hp2 HG00621.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0079 a0001c0001t0078 a0001c0001t0079	a0001c0001t0078g0033 a0001c0001t0079g0045 a0001c0001t0078g0033 a0001c0001t0079g0045	2	210	0.0095	488	c.39 others(497): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT AC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(481): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATGTATAAATACGTACATATTT ATACATATATGTATAAATACGTACATATTTATACATATATGTATAAATAC ATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18992.hp1 NA18950.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0090 a0001c0001t0089 a0001c0001t0090	a0001c0001t0089g0037 a0001c0001t0090g0061 a0001c0001t0089g0037 a0001c0001t0090g0061	2	210	0.0095	488	c.39 others(497): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATGTATAAATACGTACATATTTATACATATATGT ATAAATACGTACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT AC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGDIG_chr16_275591_288010	285879	T T	TCCCAACC others(481): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	440	0.0023	488	c.30 others(499): Show c.3065_*3066insCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAAC	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2870		chr16	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(481): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	2	0.5000	488	c.-14 others(503): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(481): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00639.hp2 others(73): Show HG00323.hp1 HG00408.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02818.hp2 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107	76	77	0.9870	488	c.-14 others(503): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(481): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00733.hp1 others(48): Show HG00438.hp2 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02572.hp1 HG02683.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03492.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18954.hp1 NA18957.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18983.hp1 NA18989.hp1 NA19000.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19062.hp1 NA19072.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0080	51	52	0.9808	488	c.-14 others(503): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(481): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	2	0.5000	488	c.-14 others(503): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTC CCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP9B_chr18_79064394_79383283	79327856	A A	ATGGATAG others(481): Show ATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCT CTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTT AGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGT GGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCT CCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGTTTAGCGTG CTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGT GGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCTGTGGTTAGTGTGCTCT CTGTGGTTAGCGTGTTCTCCGTGGTTAGTGTGTTCTCCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	195	0.0051	488	c.177 others(507): Show c.1774-1282_1774-1281insATAGTGTGCTCTCCGTGGTTAGCGTG CTCTCCGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAG CGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCT CTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCG TGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTT AGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCC GTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAACGTGCT CTCTGTGGTTAGTGTGCTCTCTGTGGTTAGCGTGTTCTCCGTGGTTAGTG TGTTCTCCGTGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	285879	T T	TCCCAACC others(481): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACC CCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	376	0.0027	488	c.22 others(499): Show c.2242_*2243insGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGG GAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACC GCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTG GGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGA GAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGG GTTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTT GGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGG TTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGTGTTGGGGTTG GGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGT TGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1560		chr16	TogoVar
CACNG2_chr22_36555857_36708752	36680685	C C	CCTGCATC others(481): Show CCTGCATCATGGCTATAATTACCACCATCATCACCACTATACTACCACCA CCACCATCACCACAACCATCGCTACCACCACCACCACCACCATCACCATC ATCACCATCACTACTACTGCCACCACTACCAAAACCACCACCACCACCAT CACCACCACCATTGCCACCACTACCATCACCACCATCACCACCATCACCA TCACCACCACTACCACCATTACCACCATCACCACCACCACCACCACCATC ACCATCACCACCACCATCATCACCACTATCACCACCACCATCACCACCAT CACCATCACCACCACTACCACCATTACCACCATCACCACCACCACCACCA CCATCACCATCACCACCACCATCATCACCACTATCACCACCACCATCACC ACCATCACCATCACCACCACTACCACCATTACCACCATCACCACCACCAC CACCACCATCACCATCACCACCACCATCATCACCACTAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0112 a0001c0001t0059g0112	1	125	0.0080	488	c.211 others(507): Show c.211+21680_211+21681insATAGTGGTGATGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTAATGGTGGTAGTGGTGG TGATGGTGATGGTGGTGATGGTGGTGGTGATAGTGGTGATGATGGTGGTG GTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTAATGGTGGTAGT GGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATAGTGGTGATGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTAATGGTG GTAGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTAGTGGTGGC AATGGTGGTGGTGATGGTGGTGGTGGTGGTTTTGGTAGTGGTGGCAGTAG TAGTGATGGTGATGATGGTGATGGTGGTGGTGGTGGTGGTAGCGATGGTT GTGGTGATGGTGGTGGTGGTAGTATAGTGGTGATGATGGTGGTAATTATA GCCATGATGCAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(481): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0010 a0001c0001t0012g0010	1	99	0.0101	488	c.244 others(507): Show c.244+69496_244+69497insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAA GGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(481): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGTCGCCTCCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0380 a0001c0004t0003g0380	1	376	0.0027	488	c.-22 others(505): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGTCGCCTCCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544737	T T	TCCCCCAC others(481): Show TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCC ACGTCGCCCTCCCCTCACGTCGCCTCCCCCTCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCTCCCTCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCACGTCGTCGCCTC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0075 a0001c0004t0003g0075	1	406	0.0025	488	c.-22 others(505): Show c.-22-2069_-22-2068insCCTCCCCTCACGTCGCCTCCCCCACGTC GCCTCCCCCCACGTCGCCCTCCCCTCACGTCGCCTCCCCCTCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCTCCCTCACGTCGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCACGTCGTCGCCTCC CCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(481): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC CTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0245 a0002c0003t0003g0245	1	189	0.0053	488	c.774 others(503): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTC TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH8_chr16_61642250_62041438	61960376	C C	CATATATG others(481): Show CATATATGTGTGTGTGTGCACATACATATATACATATATGTGTGTATGTG TGCACATACATATATACATATATGTGTGTATGTGTGCACATACATATATA CATATATGTGTGTATGTGTGCACATACATATATACATGTATGTGTGTATG TGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACATACGGTA TATACATATATGTGTGTATGTGTGCACATACGGTATATACATATATGTGT GTATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACATA CGGTATATACATATATGTGTGTATGTGTGCACATACGGTATATACATATA TGTGTGTATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGC ACATACGGTATATACATATATGTGTGTATGTGTACACATACGGTATATAC ATATATGTGTGTATGTGTACACATACGGTATATACATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	139	0.0072	488	c.253 others(507): Show c.253-58904_253-58903insATATGTATATACCGTATGTGTACACA TACACACATATATGTATATACCGTATGTGTACACATACACACATATATGT ATATACCGTATGTGCACACATACACACATATATGTATATACCGTATGTGC ACACATACACACATATATGTATATACCGTATGTGCACACATACACACATA TATGTATATACCGTATGTGCACACATACACACATATATGTATATACCGTA TGTGCACACATACACACATATATGTATATACCGTATGTGCACACATACAC ACATATATGTATATACCGTATGTGCACACATACACACATATATGTATATA CCGTATGTGCACACATACACACATACATGTATATATGTATGTGCACACAT ACACACATATATGTATATATGTATGTGCACACATACACACATATATGTAT ATATGTATGTGCACACATACACACATATATGTATATATGTATGTGCACAC ACACACATATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(481): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCC TCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTC CTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTT CCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCC TCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0038 a0001c0001t0075g0038	1	2	0.5000	488	c.162 others(509): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTT CCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCC TCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTC TTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCT CCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL6A6_chr3_130512177_130682042	130524635	G G	GGACTTTA others(481): Show GGACTTTATTTATCTGTTTATTTTATTTCTCAGTGCTCTTATCAAGTCTT TAAATTTCTTCATGGAGAAAACAGCAATTAGGCAATAGATGTTCCTATGT CATCTCAATCAGCAGTAGCAAAAGTTGTTAAGTTGGGCAGTGTGCTGGGC ACCGACTGCATGATTCCATGCCTTCCATCCCTGCTAAAGTCCCCCTTGAG AAAGGAGATGTGCGCTGTGGATGCAGAGCTGAAGCCATGCCACTAACTGC AGCCACTAAGCAATTTTGGGCTGGGATAGAAATACCCTAGGGAAAAAGAG ATGAATGACTTCAGCTCTTCACAAGGTGGGTCTTCAAATACTCCAATCCA GAGTTTTCTACATCAATGAACTCAGCACTTATTAAACATATTATATACAT TATCACATTTAATCCTTACAACAACCCATTATCCTGCTTTCACAAATGAG AGTCCAGGATTTCAAGGTTCATCAATTGCTCAAATCACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0222 a0004c0010t0004g0222	1	262	0.0038	488	c.-32 others(505): Show c.-32+7240_-32+7727dupACTTTATTTATCTGTTTATTTTATTTCT CAGTGCTCTTATCAAGTCTTTAAATTTCTTCATGGAGAAAACAGCAATTA GGCAATAGATGTTCCTATGTCATCTCAATCAGCAGTAGCAAAAGTTGTTA AGTTGGGCAGTGTGCTGGGCACCGACTGCATGATTCCATGCCTTCCATCC CTGCTAAAGTCCCCCTTGAGAAAGGAGATGTGCGCTGTGGATGCAGAGCT GAAGCCATGCCACTAACTGCAGCCACTAAGCAATTTTGGGCTGGGATAGA AATACCCTAGGGAAAAAGAGATGAATGACTTCAGCTCTTCACAAGGTGGG TCTTCAAATACTCCAATCCAGAGTTTTCTACATCAATGAACTCAGCACTT ATTAAACATATTATATACATTATCACATTTAATCCTTACAACAACCCATT ATCCTGCTTTCACAAATGAGAGTCCAGGATTTCAAGGTTCATCAATTGCT CAAATCACAG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587845	G G	GCCCCCGT others(481): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0282 a0001c0002t0003g0282	1	293	0.0034	488	c.927 others(503): Show c.927+752_927+753insCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCCGTGTCACCCACAGATACACGGCC CCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(481): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGG AGGGGAGTGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGGAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGA CAGAGGGGAGGGGGGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0046 a0003c0003t0005g0046	1	97	0.0103	488	c.923 others(507): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCC CCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCTTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCACTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCC TTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(481): Show GCTATAACCACCACCACCATTATAACCATCACCACCATCACCACTATAAC CACCACTACCACCACCACCACTATAACCATCACCACCACCACTATAACCA CCATCATCATCACCACCACTACCACTACTATAACCATTACCACCATTACT ACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCACTAT AACCACCACTACCACCACTACCACTATGATAACCATCACCAACACCACTA TAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGAC CAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACCACCA CTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCACC ACCACCACCATCACTATAATCATCACCATCATCACCACTATAACCACCAC CACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	83	0.0120	488	c.724 others(507): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAGTGGTGGT GGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAATGGTGG TGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DDX51_chr12_132131594_132149319	132136164	C C	CCCGAGTG others(481): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCCTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT CCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0016 a0002c0018t0016	a0002c0018t0016g0025 a0002c0018t0016g0025	1	315	0.0032	488	c.31 others(499): Show c.3107_*3108insAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGG AGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAGCGG GCACCGTGGGCACACTCGGGGAGGTGGGAGGAGGGGCACCGTGGGCACAC TCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAG GAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGG GCACACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGGAGG TGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGGGGCAC CGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGG GAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGAGGTGGGAGGTAGCG GGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGGGGCACAC TCGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		429		chr12	TogoVar
DNAH2_chr17_7712744_7838742	7838562	T T	TCACATTT others(481): Show TCACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGG GGGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAA GGGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAG CCGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGG CTGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGA AGGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTT TTTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTT GAGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTG GTCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGC TTCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0001 a0006c0041t0001	a0006c0041t0001g0101 a0006c0041t0001g0101	1	314	0.0032	488	c.50 others(499): Show c.5029_*5030insCACATTTCTGGGGACTCATGGGGGGGAGGTGGCA AGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACACAATCAGGGG TGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGC CGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGA GCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACA GTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGT ACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCACCGACTCCT TGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGCCACCAGGTG AGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGG AGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAA GCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4821		chr17	TogoVar
DOCK8_chr9_209865_470255	322201	C C	CCAGAGAT others(481): Show CCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0073 a0004c0073	a0004c0073t0001 a0004c0073t0001	a0004c0073t0001g0092 a0004c0073t0001g0092	1	250	0.0040	488	c.828 others(505): Show c.828-3410_828-3409insTCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAT CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(481): Show ATATGTGTAAATATACCTATGTGTATATTTACACACATATATATGTGTAA ATATACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGT ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTGTGTTTACACATATATATGTGTAAATATACCT ATGTGTGTGTTTACACATATATATGTGTAAATATACCTATGTGTGTGTTT ACACATATATATGTGTAAATATACCTATGTGTGTGTTTACACATATATAT GTGTAAATATACCTATGTGTGTGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0292 a0003c0004t0001g0292	1	272	0.0037	488	c.477 others(507): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACACATATATATGTGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATGTGTAAATATACCTATGTGTGTGTTTACAC ATATATATGTGTAAATATACCTATGTGTGTGTTTACACATATATATGTGT AAATATACCTATGTGTGTGTTTACACATATATATGTGTAAATATACCTAT GTGTGTGTTTACACATATATATGTGTAAATATACCTATGTGTGTGTTTAC ACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYNLT2B_chr3_196286219_196323240	196317380	G G	GTGTGTGT others(481): Show GTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGGGTGTGTGTGTGTAAAGTT AGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTCTGGCCCGTGAGCCT GACATTTGTGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGTGTGTGGTGT GTGTGTGTGTGTGTGTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTA CCCTCTGCTCTGGCCCGTGAGCCTGACATTTTTTTCAGTGTGTGTGTGTG TGTGTGTGTTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTGTGTAAAGTT AGTGATCTTACAAACCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGACA TTTTTTTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTG TAAAGTTAGTGATCTTACAAACCTAGCTGAGTACCCTCTGCTCTGGCCCG TGAGCCTGACATTTTTTTTCAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	328	0.0030	488	c.113 others(503): Show c.113+659_113+660insACACACACACACACACACTGAAAAAAAATG TCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTAAGATCA CTAACTTTACACACACACACACAACACACACACACACACACACACACACT GAAAAAAAATGTCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGGTTTGT AAGATCACTAACTTTACACACACACACACACACCACACACACACCACACA ACACACACACACACACACACACTGAAAAAAATGTCAGGCTCACGGGCCAG AGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTACACACACA CACACACACACACCACACACACACACACACCACACAACACACACACACAC ACAAATGTCAGGCTCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGT GAGATCACTAACTTTACACACACACACCCACACACACACCACACAACACA CACACACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
EXD3_chr9_137301896_137428162	137350195	T T	TAGATAGA others(481): Show TAGATAGAGAGGGGTGGGGATTACGAGGAGAGAGCTAGATAGAGAGGGGT GGGGATCACAGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAA GGTGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGGTTAGATAGAGAG GGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGG GGAGGGGGCTAGATAGAGGGGGTGGGGATCACGGGGAAGGTTCTAGATAG AGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATC ACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTA GATAGAGAGGGGTGGGGATCACGAGGAGGGGGAGAGATAGAGAGGGGTGG GGATCACGGGGAGGGGGAGAGATAGAGAGGGGTGGGGATCACGGGGAGGG GGAGAGATAGAGAGGGGTGGGGATCACGGGGAGGGGGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0038 a0015c0022t0001g0038	1	76	0.0132	488	c.149 others(505): Show c.1495-665_1495-664insCGCCCCCTCCCCGTGATCCCCACCCCTC TCTATCTCTCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCT CCCCGTGATCCCCACCCCTCTCTATCTCTCCCCCTCCTCGTGATCCCCAC CCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGA ACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGTGATC CCCACCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCCTCTATC TAGCCCCCTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCCCGT GATCCCCACCCCTCTCTATCTAACCCCTCCCCGTGATCCCCACCCCTCTC TATCTAGCACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCC CTGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCTCGTAATCCCCACCC CTCTCTATCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FAM120B_chr6_170301758_170412067	170377152	G G	GTGCTGTG others(481): Show GTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCT CACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGA GAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCA GATGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACACGT CCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTGTGCTG TGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCT GCTCAGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACAC AGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCC CGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA ACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0018 a0001c0009t0017 a0001c0009t0018	a0001c0009t0017g0092 a0001c0009t0018g0091 a0001c0009t0017g0092 a0001c0009t0018g0091	2	288	0.0069	488	c.228 others(509): Show c.2284-11113_2284-11112insTCCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCG GGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGATGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACA CGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCAGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGC ACACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(481): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACC TCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCG CTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGAGCACT GGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCC GGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0024 a0001c0001t0016g0024	1	225	0.0044	488	c.321 others(505): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGAC CAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGAGAAGG GAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAG TGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGG AGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGA CCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGGAGAAGG GAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGT GACCGGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635057	G G	GATGGATG others(481): Show GATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCA TGGATGGAAGTATGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAGGGG TGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGAGAGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGGTGGATGGATGCATGGATGGACGGAAGTATGGGTGGATGGG TGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGACGGAAG TATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGATGGA AGTATGGGTGGATTGGTGGGTGGGTGGGTGGATGGATGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp2 HG02647.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0002c0003t0001 a0001c0001t0010 a0002c0003t0001	a0001c0001t0010g0367 a0002c0003t0001g0369 a0001c0001t0010g0367 a0002c0003t0001g0369	2	307	0.0065	488	c.59- others(503): Show c.59-3280_59-3279insGCATCCATCCACCCACCCACCCACCAATCC ACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCATCCACCCAT CCACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCACCCACCC ACCCATCCACCCATCCACCCATACTTCCGTCCATCCATGCATCCATCCAC CCACCCACCCACCCACCCATCCACCCATACTTCCCTCCATGCATCCATCC ACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCAT CCTCTCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCC ATCCACCCACCCCTCCACCCATACTTCCATCCATCCATCCATCCACCCAC CCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCATAC TTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTT CCATCCAT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXK2_chr17_82514732_82609602	82586196	C C	CAAAGGTG others(481): Show CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0016 a0007c0023t0016	a0007c0023t0016g0289 a0007c0023t0016g0289	1	303	0.0033	488	c.157 others(501): Show c.1576+2_1576+3insGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586400	G G	GCCGGGGG others(481): Show GCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTAGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	227	0.0044	488	c.157 others(505): Show c.1576+201_1576+202insCGGGGGGGAAAGGAGGAGAACGGAGACC ACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTAGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586502	G G	GGGGGGAA others(481): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAAA GGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	284	0.0035	488	c.157 others(505): Show c.1576+337_1576+338insGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGGG ACCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTCAAAGGTAGGCAGTGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGT	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GJA9_chr1_38869069_38886587	38870012	C C	CAAAAAAA others(481): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	433	0.0023	488	c.45 others(499): Show c.4538_*4539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA AGTACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCT TTAAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCA CCCGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACG AGATCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAAT GTAGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCT TCAGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAA TTTCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGC GAATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTT CTTTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATTTT TTTT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		4056		chr1	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(481): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATA TATATTTATAAATAAATATATATAAATATATATAAATATATATTTATATT TATTTGTAAATAAATATATATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAA TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATT TATTTATAAATAAATATATATAAATATATATTTATATTTATTTATATATA AATATATAAATATATATTTATAGTTATTTATATATAAATATATAAATATA TATTTATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0062 a0001c0003t0044g0062	1	140	0.0071	488	c.-97 others(505): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAAT ATATATAAATATATATTTATATATATTTATAAATAAATATATATAAATAT ATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATATAT ATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATAT ATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATAT ATTTATATTTATTTATATATAAATATATAAATATATATTTATAGTTATTT ATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATAT AAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(481): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATTTTATATAATATATAATATATATTATATAATA TATAATATATAATATATATTATATTATATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	278	0.0036	488	c.661 others(505): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATATTATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(481): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCCTGT CCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCCCTCCTCCC CCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTC CTCCTCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCCTCC CCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTC CCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCC CCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCT CCTCCCCCCCTCCTCCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCACACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	11	0.0909	488	c.10- others(505): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTC CCCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCT CCCACCTCCTCCTCCTCCTCCCCTCCCCGTCCTCCTCCCACCTCCCCCTC CTCCTCCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTC CCCCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCC TCCTCCTGCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCC TCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCTCCCCCCTCCCCCCTCCTC CCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTC CCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCACACCTCCCCCCTCCTC CCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(481): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTAT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTG CATGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTG TACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTG TATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTA TGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTATGCA TGTGTGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTATG CACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01257.hp1 others(8): Show HG00099.hp1 HG00639.hp2 HG01257.hp1 HG01975.hp1 HG01978.hp2 HG02071.hp2 HG03654.hp1 HG04199.hp1 NA18950.hp2 NA18971.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0001t0073 a0001c0001t0112 others(8): Show a0001c0001t0047 a0001c0001t0073 a0001c0001t0112 a0001c0001t0186 a0001c0002t0146 a0001c0002t0148 a0001c0002t0150 a0001c0002t0151 a0001c0002t0152 a0001c0002t0158 a0001c0002t0159	a0001c0001t0047g0113 a0001c0001t0073g0010 a0001c0001t0112g0074 others(8): Show a0001c0001t0047g0113 a0001c0001t0073g0010 a0001c0001t0112g0074 a0001c0001t0186g0196 a0001c0002t0146g0176 a0001c0002t0148g0192 a0001c0002t0150g0184 a0001c0002t0151g0066 a0001c0002t0152g0004 a0001c0002t0158g0043 a0001c0002t0159g0052	11	36	0.3056	488	c.946 others(505): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATACACACATGCATACACGTGCACATGTAAATACACACGCAC AAATACACGTACACACAGGTATACACATGCACATGTAAATACACACACAT ATACACACATGCAACACAAATACACATACACACAGGTATACACACATGCC CATACATGCACACACATGCATACACATGCACACACAAATACATATACGTG TATACACACACATACATGCACGCACGTGCATACACATGCACACACAAATA TACACACACATGAATACACATGCACACATACACACACACACACACACACA CACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar

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