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
IL17REL_chr22_49986811_50017765	50009897	C C	TGGCAGTC others(497): Show TGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGAC CCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGT GGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAG TCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAG TCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATC GGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTG ACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGT GTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGC AGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTC AGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAA TCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	438	0.0023	504	c.103 others(521): Show c.103-1233_103-1232insCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACAC CAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCA CTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGA TTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACT GAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACT GCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCAC ACCAGACTGAGGGTCACTGACTGCCA	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(497): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGC AGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 NA19240.hp1 HG02886.hp2 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0002 a0002c0010t0002 a0001c0003t0002 a0002c0010t0002	a0001c0003t0002g0002 a0001c0003t0002g0086 a0002c0010t0002g0101 a0001c0003t0002g0002 a0001c0003t0002g0086 a0002c0010t0002g0101	3	15	0.2000	504	c.978 others(521): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(497): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGC AGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0192 a0001c0003t0003g0192	1	13	0.0769	504	c.978 others(521): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(497): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01978.hp1 HG01346.hp2 HG01978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0168 a0002c0003t0001g0170 a0002c0003t0001g0168 a0002c0003t0001g0170	2	234	0.0085	504	c.127 others(523): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAG others(497): Show TAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0135 a0002c0003t0001g0135	1	233	0.0043	504	c.127 others(523): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(497): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCAC CTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCC CCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACCT CCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCCT CCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTC CTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCA CCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCC TCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	11	0.0909	504	c.10- others(521): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCAC CTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTC CCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTG CTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCT GTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCC CACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(497): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACCT CCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCCT CCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTC CTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCA CCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCC TCCCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	11	0.0909	504	c.10- others(521): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCGTCCTCCTCCCACCTCCCCCTCCTCCTC CCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTG CTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCT GTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCC CACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCA others(497): Show CTCTCTCATCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCC CCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCCCTCTCTC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCC TCTCTCTTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCTCCCCCCTCTCCCC TCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCCATCCCCCTC CCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCT CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCT TCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCC CCCTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0065 a0004c0009t0002g0065	1	56	0.0179	504	c.11 others(525): Show c.1103+4099_*1103+4100insATCCCCCTCCCCCTCCTTCCCTCT CTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTC CCCCTCCCCCCCCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCCTCTCTCTTCCCCCTCCCCCCTCTCCCCTCCC CCTCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTGTCCCC CTCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCC CCTCCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCC CCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTC TCTCTCTCCCCCTCCTTCCCCCTGTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514223	C C	CCTCCCTC others(497): Show CCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCTCTCCCTCCCTCCCTCTC TTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCC TCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCTC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTC CCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCC TCCCTCTCTCCCTTCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0007 a0018c0017t0007	a0018c0017t0007g0078 a0018c0017t0007g0078	1	231	0.0043	504	c.-84 others(521): Show c.-84+9491_-84+9492insCCCTTCCTCTCTCCCTCCCTCCCTCTCT TCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCT CCCTCTCTCCCTTCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTCTCTCCCTCCCTCCCTCCCTTCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(497): Show GATATACCATATCATATGGTATATGATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATGATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATGATATACCATATCATATGGTATATGATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATATCATATACCATATCATA TGGTATATCATATACCATATCATATGGTATATCATATACCATATCATATG GTATATCATATACCATATCATATGGTATATCATATACCATATCATATGGT ATATC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	254	0.0039	504	c.52+ others(521): Show c.52+12517_52+12518insGATATACCATATGATATGGTATATGATA TACCATATGATATGGTATATGATATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATCATATACCATAT GATATGGTATATCATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATGATATG GTATATGATATACCATATGATATGGTATATGATATACCATATGATATGGT ATATCATATACCATATGATATGGTATATCATATACCATATGATATGGTAT ATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(497): Show GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAG GATATATATATATATATATATATCCAAGAGGATATATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATATCCAAGGGGATATATATATATATATATATCCAAGGGGA TATATATATATATATATATCCAAGGGGATATATATATATATATATCCAAG GGGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	63	0.0159	504	c.-67 others(523): Show c.-67-49162_-67-49161insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGGGGATATATATATATATATATATCC AAGGGGATATATATATATATATATATCCAAGGGGATATATATATATATAT ATCCAAGGGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	167997259	G G	GGGGGCGG others(497): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	356	0.0028	504	c.-22 others(515): Show c.-2210_-2209insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		411		chr6	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(497): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTTTATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG02280.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0096 a0001c0001t0015g0191 a0001c0001t0001g0096 a0001c0001t0015g0191	2	210	0.0095	504	c.125 others(521): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTTTATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATTTATATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(497): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT ATTTATATATATATTTATATATATTTATATATATATATTTATATATATAT ATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTTAT ATATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTAT ATATAGTTATATATATAGTTATATATAGTTATATATATATTTATATATAT ATTTTTATATATATATTTATATATATATATTTTTATATATATATTTATAT ATATATATTTTTATATATATATTTATATATATTTATATATATATTTATAT ATATAAATATATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATGTATTTATATAT ATTTATATATGTATTTATATATATTTATATATAATTATATGTATTTATAT ATATT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0007 a0003c0003t0002g0007	1	80	0.0125	504	c.125 others(521): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATATTTATATATATATTTATATATATTTATATAT ATATATTTATATATATATATTTTTATATATATTTATATATATTTTTATAT ATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTATAT ATAGTTATGTATAGTTATATATAGTTATATATATAGTTATATATAGTTAT ATATATATTTATATATATATTTTTATATATATATTTATATATATATATTT TTATATATATATTTATATATATATATTTTTATATATATATTTATATATAT TTATATATATATTTATATATATAAATATATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATATATGTATTTATATATATTTATATATGTATTTATATATATTTATATAT AATTATATGTATTTATATATATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRCH3_chr3_197786254_197893436	197877382	G G	GCAGTGAT others(497): Show GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCG CACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTG ATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCA ACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCA TGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTC TTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACC CAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCGCACC CATGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	265	0.0038	504	c.220 others(523): Show c.2208+1626_2208+1627insACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG GCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACCG CACCCATGACAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(497): Show ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACATCCACCCACACTCACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGC CCACACTTACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCT CCACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG03139.hp1 HG00741.hp1 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0032 a0001c0001t0008g0029 a0001c0001t0008g0030 a0001c0001t0008g0032	3	262	0.0115	504	c.129 others(521): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACTCGCAC TTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACATCCACCC ACACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACTC ATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCACACTTAC ACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364472	T T	TACACCCA others(497): Show TACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACA CTTACACCTACGCTTACATCTACCTCCACACCCGCACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCGCACTCACACCCA CCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACAATTACACC CACCCACACTTACACCTACGCTTACATCTACCTCCACACCCACGCTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCACTCA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGCT TACACCCACCCACACTTACACCTACGCTTACATCTACCTCCACACCCACG CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0025 a0002c0004t0010g0025	1	216	0.0046	504	c.129 others(521): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCGCGCTTAC ACCCACCCACACTTACACCTACGCTTACATCTACCTCCACACCCGCACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGCGC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCGC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACGCCC ACAATTACACCCACCCACACTTACACCTACGCTTACATCTACCTCCACAC CCACGCTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCGCGCTTACACCCACCCACACTTACACCTACGCTTACATCTACCT CCACACCCACGCTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1991559	A A	ACGAGCAC others(497): Show ACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCGCGAGCAC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCGC GAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0180 a0001c0004t0003g0180	1	262	0.0038	504	c.141 others(525): Show c.1416+10505_1416+10506insCGAGGCCAGCAGTGGCGCTCTGGT GGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGCGAGGCCAGCAGTGGCGC TCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGCGAGGCCAGCAG TGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGC CAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCG TGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGG TGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACC CAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCA GGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGG TGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGG GGCAGGTGCTCAGGCACCCAGCGGTGCTCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1316970	A A	ACGGCCCC others(497): Show ACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCCCCACACT CCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCC CCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGAC TCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCA CCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCT GCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGG CCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGA CTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGC CCACC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19087.hp2 NA19009.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0001 a0001c0002t0001g0005	2	213	0.0094	504	c.456 others(521): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTC ACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACAC TCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCC AGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGA CTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCC ACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACA CTCTAGACTCACCCCCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(497): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02523.hp2 NA19065.hp2 HG02165.hp2 HG02523.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	249	0.0120	504	c.-31 others(515): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATATTCA others(497): Show TATATTCATATATAGATTCATATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATATATTCATATATA TATTC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	109	0.0092	504	c.343 others(521): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATCTATATATGAATATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT ATATATATGAATCTATATATGAATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(497): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATATATTCATATATA TATTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG01074.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0048 a0001c0001t0001g0056	2	110	0.0182	504	c.343 others(521): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(497): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATATATTCATATATA TATTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0142 a0001c0001t0009g0142	1	109	0.0092	504	c.343 others(521): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314923	T T	TTGAGACA others(497): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0132 a0008c0007t0002g0132	1	174	0.0057	504	c.753 others(521): Show c.753+3144_753+3145insCAAACAAACAAAAAACAAACCAAAAAAA TACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCCTAAT TCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGAATAC CAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAAAATG GCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGCCAGG TGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGAGAAA CCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCATGCC TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTG GGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAGCCTG GGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MELTF_chr3_196996740_197034817	197030146	G G	GCACAGCT others(497): Show GCACAGCTGCACAGAGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCC CTGGCGAGGGGGGAGCCGGGCAGGGGCACCTCGGCCACAGCTGCACAGAG GATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGC CGGGCAGGGGCACCTCGGCCACGGCTGCACAGAGGATCTGGGATACAGGG GAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTC GGCCACAGCTGCACAGAGGATCTGGGATACAGGGGAGCCCAGGCCGAGCG CCCTGGCGAGGGGGGAGCCGGGCAGGGGCATCTCGGCCACAGCTGCACAG AGGATCTGGGATACGGGGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGA GCCGGGCAGGGGCATCTCGGCCACAGCTGCACAGAGGATCTGGGATACGG GGGAGCCCAGGCCGAGCGCCCTGGCGAGGGGGGAGCCGGGCAGGGGCATC TCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0022 a0006c0007t0010g0022	1	248	0.0040	504	c.-44 others(513): Show c.-445_-444insGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGG GCGCTCGGCCTGGGCTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGC CGAGATGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCT CCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCC GGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCTGTATCCCAGAT CCTCTGTGCAGCTGTGGCCGAGATGCCCCTGCCCGGCTCCCCCCTCGCCA GGGCGCTCGGCCTGGGCTCCCCTGTATCCCAGATCCTCTGTGCAGCCGTG GCCGAGGTGCCCCTGCCCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGG CTCCCCCGTATCCCAGATCCTCTGTGCAGCTGTGGCCGAGGTGCCCCTGC CCGGCTCCCCCCTCGCCAGGGCGCTCGGCCTGGGCTCCCCCGTATCCCAG ATCCTCTGTGCAGCTGTG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		330		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCGC others(497): Show ACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAG GGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCCCAC ACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACA CACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCC CCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGCCCCAGGGTG GGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACA CACAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0326 a0001c0001t0008g0326	1	255	0.0039	504	c.557 others(521): Show c.557-2651_557-2650insGCCCCAGGGTGGGAGCCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACAC CCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGC CCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGC CCCACACACACACACCCCCGCCCCACACACACACACCCCGCCCCACACAC ACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACC CCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACACCCCCG CCCCACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACA CACACACACCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCT GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GAGAAGTT others(497): Show GAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAG GTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATG GAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGT TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT ATGGCAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTGA GGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGATTATGGAGGTTAGGGAG GTTAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0012 a0002c0030t0012	a0002c0030t0012g0104 a0002c0030t0012g0104	1	217	0.0046	504	c.224 others(523): Show c.2242-4816_2242-4815insATAACCTCCCTAACCTCCATAATCTC CCTCACCTCCATAACCTCCCTAACCTCCCTCACCTCCATAATCTCCCTAA CCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCT CCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACTTCCCTAACCTCCCTAACCTCCGTAACCTCCCTAACCTT CATAACCTCCCTAACCTCCATAACTTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAGGTT others(497): Show GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTAT GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGT TATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTATGGA GGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAG GTTAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	145	0.0069	504	c.224 others(523): Show c.2242-5374_2242-5373insATAACCTCCATAACCTCCCTCACCTC CATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACCTCCATAACCTCC CTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAAT CTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCC TCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATA ACTTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAATCTC CCTAACCTCCATAACTTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRPS9_chr2_105033069_105104960	105054579	A A	ACCCCTTT others(497): Show ACCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTAT CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	190	0.0053	504	c.315 others(521): Show c.315+5711_315+6214dupCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPS9_chr2_105033069_105104960	105055529	C C	CGCATTTT others(497): Show CGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAA TATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCT TTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATT TTATTAAATATAGCGGGCCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGT ATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	147	0.0068	504	c.315 others(521): Show c.315+6214_315+6215insCGCATTTTATTAAATATAGCGGGCCCCT TTTGGTATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATCGCATT TTATTAAATATAGCGGACCCCTTTTGGTATCGCATTTTATTAAATATAGC GGGCCCCTTTTGGTATCGCATTTTATTAAATATAGCGGGCCCCTTTTGGT ATCGCATTTTATTAAATATAGCGGACCCCTTTTGGTATTGCATTTTATTA AATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCC CTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCA TTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTATTAAATATA GCGGGCCCCTTTTGGTATTGCATTTTATTAAATATAGCGGGCCCCTTTTG GTATTGCATTTTATTAAATATAGCGGGCCCCTTTTGGTATTGCATTTTAT TAAATATAGCGGGCCCCTTTTGGTAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(497): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATATATATATATTATACATATATATATGTATAATATATATA ATGTATATATATACATATTATATATTATATATAATATATACATATATATT ATATATAATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATATTACATATATTATATATAATATAT ATACATATATAATATATTATATATTATATATAATATATATAATATATAAT ATATATATAATATAATATATTATATATTATATATAATATATATAATATAT AATATATTATATATTATATATAATATATATAATATATAATATATTATATA ATATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18999.hp2 NA18993.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0303 a0001c0002t0001g0239 a0001c0002t0001g0303	2	264	0.0076	504	c.262 others(523): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATATATATATATTATACA TATATATATGTATAATATATATAATGTATATATATACATATTATATATTA TATATAATATATACATATATATTATATATAATATATACATATTATATATT ATATATATAATATATATACATATTATATTATATATAATATATATACATAT TACATATATTATATATAATATATATACATATATAATATATTATATATTAT ATATAATATATATAATATATAATATATATATAATATAATATATTATATAT TATATATAATATATATAATATATAATATATTATATATTATATATAATATA TATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(497): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATTATATATAATATATAATATATTATATA ATATA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	263	0.0038	504	c.262 others(523): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATTATA TATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(497): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGA GGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGG GGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	218	0.0046	504	c.159 others(521): Show c.1596+173_1596+174insGGGGAGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGG GGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGG CGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGG GTGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTTP_chr4_99569824_99628997	99588871	A A	ACATATAT others(497): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03471.hp1 HG01070.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0170 a0003c0003t0001g0084 a0003c0003t0001g0170	2	278	0.0072	504	c.394 others(519): Show c.394-763_394-762insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(497): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	261	0.0038	504	c.394 others(519): Show c.394-735_394-734insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYBL2_chr20_43662114_43721482	43696486	A A	ACTGGGAT others(497): Show ACTGGGATTACAGGCGTGAGCCACCACACCAGGCTTAAAATTAGACGATG TCTTACTCTTTTACAACTTTCTTTTTCTATTTAACATATCGTTCCATGTT GTTATGTGTATTCAGATCTCCAACATTCCTGAATTTGCCGTATCTTATTT AACCATTATATTGTCAAACATCTGTTACTATTTCCATCAATGCTATAATG ATCATCATTGTTCAGTTTCTTTGTACATTTGCTGAACTGTGTGGTTGATT TTTTTGTTTTTAGATGGGGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTG GTGTGACCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGTGATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGCACCATGC CCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCC AGGATGGTCTCGATTTCTTGACCTCGTGATCTCCCCGCCTCAGTCTCCCA AAGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG02056.hp1 others(38): Show HG01081.hp1 HG01109.hp2 HG02056.hp1 HG02083.hp2 HG02486.hp2 HG02615.hp2 HG02723.hp1 HG03041.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG04228.hp1 NA18939.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19058.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0020 others(37): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0004t0001g0011 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0082 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0087 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0170	41	122	0.3361	504	c.664 others(521): Show c.664-2907_664-2906insCGAGTAGCTGGGATTACAGGCATGCAGC ACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCAT GTTGGCCAGGATGGTCTCGATTTCTTGACCTCGTGATCTCCCCGCCTCAG TCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCAGGCTTAAA ATTAGACGATGTCTTACTCTTTTACAACTTTCTTTTTCTATTTAACATAT CGTTCCATGTTGTTATGTGTATTCAGATCTCCAACATTCCTGAATTTGCC GTATCTTATTTAACCATTATATTGTCAAACATCTGTTACTATTTCCATCA ATGCTATAATGATCATCATTGTTCAGTTTCTTTGTACATTTGCTGAACTG TGTGGTTGATTTTTTTGTTTTTAGATGGGGTCTCACTCTGTTGCCAGGCT GGAGTGCAGTGGTGTGACCTTGGCTCACTGCAACCTCCGCCTCCCGGGTT GAAGTGATTCTCCTGCCTCAGCCTCC	MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(497): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCC CCATG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0210 a0004c0007t0002g0210	1	4	0.2500	504	c.238 others(521): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGATG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA CATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(497): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCC CCATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02055.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0141 a0001c0001t0002g0022 a0001c0001t0002g0141	2	5	0.4000	504	c.238 others(521): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA CATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAT others(497): Show TTATATATAAATATATAATATATATATAATATATATTATATATAAATATA TAATATATATTATATATTATATATATTATAATATATATAATATATAATAT ATATTATATATAAATATATATAATATATAATATATATTATATATAAATAT ATATAATATATAATATATATTATATATAAATATATATAATATATAATATA TATTATATATAAATATATATAATATATAATATATATTATATATAAATATA TATAATATAATATATATATATTATATATAAATATATATATAATATATATT ATATATTATATATAAATATATAATATATAATATATATTATATTATATATT ATATAATATGTAAATATTATATTATATATATTATATAATATATAATATAT TATATATATTATATAATATATTATATATAATATAATATATTATATATTAT ATAATATATTATATATTATATAATATATTATATATAATATATAATATATT ATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0194 a0002c0003t0014g0194	1	202	0.0050	504	c.48+ others(519): Show c.48+1021_48+1022insATATATAAATATATAATATATATATAATAT ATATTATATATAAATATATAATATATATTATATATTATATATATTATAAT ATATATAATATATAATATATATTATATATAAATATATATAATATATAATA TATATTATATATAAATATATATAATATATAATATATATTATATATAAATA TATATAATATATAATATATATTATATATAAATATATATAATATATAATAT ATATTATATATAAATATATATAATATAATATATATATATTATATATAAAT ATATATATAATATATATTATATATTATATATAAATATATAATATATAATA TATATTATATTATATATTATATAATATGTAAATATTATATTATATATATT ATATAATATATAATATATTATATATATTATATAATATATTATATATAATA TAATATATTATATATTATATAATATATTATATATTATATAATATATTATA TATAATATATAATATATTATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241807891	C C	CTCCCCCC others(497): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGATGT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTCAGTCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCT CAACCCAGGGACCTCGGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCTCCCCTCAGCCCAGGGACCTCCGCAGGC CACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	314	0.0032	504	c.-13 others(515): Show c.-1387_-1386insTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCCCCCCTC AGTCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCTTCCCTCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCCTCAGCCCA GGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1301		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(497): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTG TATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATACCG TGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATAC TGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGT ATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0326 a0001c0002t0011g0326	1	118	0.0085	504	c.-75 others(523): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATATAT ACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGTATAT ATACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATAC ATACATACAGTATACATACATACAGTATACATGCTGTATACAGTATACAT GCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP3_chr1_247411173_247453817	247434047	G G	GGAGCTCT others(497): Show GGAGCTCTCTGGTCAGATGTGTTCTGAGGCCTTCTCTATTCCAGAGCTCT CTGGTCAGATGTGTTCTGATGCTTTCTCTATTCCAGAGCTCTCTGGTCAG ATGTGTTCTGATGCTTTCTCTATTCCAGAGCTCTCTGGTCAGGTGTGTTC TGATGCTTTCTCTATTCCAGAGCTCTCTGGTCAGGTGTATTCTGATGCTT TCTCTATTCCAGAGCTCTCTGGTCAGGTGTGTCCTGATGCTTTCTCTATT CTGGAGCTCTCTGGTCAGATGTGTTCTGATGCTTTCTCTATTCCGGAGCT CTCTGGTCAGGTGTGTTCTGATGCTTTCTGTATTCCGGAGCTCTCTGATC AGATGTGTCCTGATGCTTTCTCTATTCCGGAGCTTCCTGATCAGGTGTGT TCTGATGCTTCCTCTGTTCTGGAGCTCTCTGGTCAGATGTGTTCTGAGGC CTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGATGCTTTCTCTA TTCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp1 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0205 a0001c0002t0010g0206 a0001c0002t0010g0205 a0001c0002t0010g0206	2	166	0.0120	504	c.232 others(519): Show c.2322-41_2322-40insATGTGTTCTGAGGCCTTCTCTATTCCAGAG CTCTCTGGTCAGATGTGTTCTGATGCTTTCTCTATTCCAGAGCTCTCTGG TCAGATGTGTTCTGATGCTTTCTCTATTCCAGAGCTCTCTGGTCAGGTGT GTTCTGATGCTTTCTCTATTCCAGAGCTCTCTGGTCAGGTGTATTCTGAT GCTTTCTCTATTCCAGAGCTCTCTGGTCAGGTGTGTCCTGATGCTTTCTC TATTCTGGAGCTCTCTGGTCAGATGTGTTCTGATGCTTTCTCTATTCCGG AGCTCTCTGGTCAGGTGTGTTCTGATGCTTTCTGTATTCCGGAGCTCTCT GATCAGATGTGTCCTGATGCTTTCTCTATTCCGGAGCTTCCTGATCAGGT GTGTTCTGATGCTTCCTCTGTTCTGGAGCTCTCTGGTCAGATGTGTTCTG AGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGTGTTCTGATGCTTTC TCTATTCCAGAGCTCTCTGGTCAG	NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(497): Show TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	299	0.0033	504	c.91+ others(517): Show c.91+403_91+404insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(497): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTTAAACTA TATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTATATAGTT TTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAA ACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATGTA GTTTTAAACTATATAGTTCATGTAGTTTTAAACTAGTTTAAAACTATATA GTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTAT ATAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0006 a0001c0016t0001g0006	1	38	0.0263	504	c.342 others(523): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTAGTTT AAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTACATA GTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTA AAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAG TTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATA TAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACT ATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATA TAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATATAGT TTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950631	G G	GCACATAC others(497): Show GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACCGGCACACGTACACACATGCACACATGAAC ACATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACATGCATACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACAC ATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACAC ACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01346.hp1 HG01517.hp2 HG00323.hp1 HG01346.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120	3	120	0.0250	504	c.-27 others(515): Show c.-2772_-2771insCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACA CATGCACACATGAACACATGTGCACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CACACATGCATACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACGCACACATGAGCACATGTGCACACATGCCCATACACACTGG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACACACTGGCACACACGTA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2608		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(497): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02965.hp2 HG01243.hp2 HG01891.hp2 HG02965.hp2	a0015 a0050 a0015 a0050	a0015c0010 a0050c0133 a0015c0010 a0050c0133	a0015c0010t0001 a0050c0133t0001 a0015c0010t0001 a0050c0133t0001	a0015c0010t0001g0031 a0015c0010t0001g0032 a0050c0133t0001g0033 a0015c0010t0001g0031 a0015c0010t0001g0032 a0050c0133t0001g0033	3	150	0.0200	504	c.292 others(519): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(497): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTATTACATATATAACATATATGTAATACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATAACATATATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	122	0.0082	504	c.70 others(515): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTAATACATA TATGTATTACATATATAACATATATGTATTACATATATGTATTACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(497): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTATTACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATATATGTATT ACATATATGTAATACATATATAACATGTATTACATATATGTAATACATAT ATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA19010.hp2 NA18970.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	2	123	0.0163	504	c.70 others(515): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTATTACATATATAACA TATATGTATTACATATATGTAATACATATATAACATATATGTATTACATA TATGTAATACATATATAACATATATGTATTACATATATGTAATACATATA TAACATATATGTATTACATATATGTAATACATATATAACATGTATTACAT ATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCCCGCCC others(497): Show CCCCGCCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACT GCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATG GACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCC AGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCT GCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCC CCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGA CCTGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	226	0.0044	504	c.471 others(519): Show c.471+620_471+621insCGCCCACTGCCCAGATACGGACCCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATAC GGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCC CCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGAT ACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGC CCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACC CACTTCCCAGATATGGACCTGGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCNT_chr21_46319156_46450769	46404022	G G	GTGTGTGT others(497): Show GTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGG GAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCT CGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGC CCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGT GTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGAACACAGCGTGGGAGA GGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTG TGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGG AGAAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0095 a0016c0025t0001g0118 a0016c0025t0001g0119 a0016c0025t0001g0095 a0016c0025t0001g0118 a0016c0025t0001g0119	3	297	0.0101	504	c.511 others(523): Show c.5115+1547_5115+1548insGTGCCCACGCGGCGCGTGCTCGGTGA ATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGC TCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGG CGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCC CACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTG TGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATT GTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGT GGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTACTCGGTGAATGA ACACAGCGTGGGAGAGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACAC AGCGTGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAA TGAACACAGCGTGGGAGAATTGTGTGTG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar

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