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
CPNE4_chr3_131528569_132040014	131978121	A A	ATTATTAT others(429): Show ATTATTATATATAATATATATAATAAATTTACATATTTATATATATTTAT ATATTTTATATATATTTATATAAATATATATATTTATATATATTTTATAT ATATTTATATATATTTTATATATATTTATATATATATTTATATATATTTA TATTTATATATATATTTTTATATATATTTATATATATTTATATTTATATA TATATTTTTATATATTTATATATATTTTTATATATTTATATATTTATATA TATATTTATATATATATTTATATATATATATTTATATTTATATATATATA TTTATATATTTATATATATTTATATATATATTTTTATATATATATTTATA TATATATTTATATATTTATATATATTTTTATATATTTTTATATATATATT TATATATATTTATATATATATTTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	94	0.0106	436	c.-2+ others(453): Show c.-2+56445_-2+56446insAAATATATATATATAAATATATATATAA ATATATATAAATATATATATAAAAATATATAAAAATATATATAAATATAT AAATATATATATAAATATATATATAAAAATATATATATAAATATATATAA ATATATAAATATATATATATAAATATAAATATATATATATAAATATATAT ATAAATATATATATAAATATATAAATATATAAAAATATATATAAATATAT AAAAATATATATATAAATATAAATATATATAAATATATATAAAAATATAT ATATAAATATAAATATATATAAATATATATATAAATATATATAAAATATA TATAAATATATATAAAATATATATAAATATATATATTTATATAAATATAT ATAAAATATATAAATATATATAAATATGTAAATTTATTATATATATTATA TATAATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(429): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0193 a0007c0007t0001g0193	1	350	0.0029	436	c.488 others(453): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(429): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0007 a0007	a0007c0046 a0007c0046	a0007c0046t0001 a0007c0046t0001	a0007c0046t0001g0228 a0007c0046t0001g0228	1	350	0.0029	436	c.488 others(453): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(429): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTGACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0203 a0010c0010t0001g0203	1	350	0.0029	436	c.488 others(453): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTGACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923725	A A	AACCCAGC others(429): Show AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCA CACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTAACCCGGC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACAC TAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0001 a0010c0048t0001	a0010c0048t0001g0207 a0010c0048t0001g0207	1	350	0.0029	436	c.488 others(453): Show c.488+1084_488+1085insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTGACCCAGTCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACT AACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCAC ACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15933771	A A	AGTGAGTG others(429): Show AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0062 a0001c0005t0007g0062	1	386	0.0026	436	c.198 others(451): Show c.198+439_198+440insCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DAP3_chr1_155684091_155744010	155701069	C C	CCGCCCGG others(429): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGGTCAGCCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp2 NA19030.hp1 HG01109.hp2 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0023 a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0023	3	288	0.0104	436	c.-7- others(451): Show c.-7-8703_-7-8702insGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGTGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCC GCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(429): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGG TGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	367	0.0027	436	c.-42 others(447): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGG TGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(429): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGTGGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGGGGGGTG GAGGGGGGGGTGAGGGGAGTCGGGGGGGTGGGGGGGTGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGGGGGGGTGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	367	0.0027	436	c.-42 others(447): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGTGGGGTGGGGGGGTGAGGGAG TCGGGTGGGGTGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG GGGGGGTGGGGGGTGGAGGGGGGGGTGAGGGGAGTCGGGGGGGTGGGGGG GTGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGGGGGGGTGGGGGG TG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2314352	G G	GCAGGGAG others(429): Show GCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGG AAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAA GGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAGGGAAGCAGG GAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGA AGGAGGGAGGGAGGGAGGGAAAGAGGGAAGGAGGGAGGGAGGGAGGGAGG GAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGG AAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAG GGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAAGGAGGGAGGGAGG GAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 homoSapiens_chm13v2.hp1 HG02004.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0002 a0002c0002t0003 a0003c0003t0002	a0002c0002t0003g0050 a0003c0003t0002g0013 a0002c0002t0003g0050 a0003c0003t0002g0013	2	50	0.0400	436	c.287 others(455): Show c.287-22750_287-22749insTCTCCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTC CCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTCCC TCCCTCCTTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCCT CCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGC CTCCCTCCTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTG CCTTCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTCCT TCCCTCCCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DOCK1_chr10_126900428_127457516	126947414	A A	ATGGTGGT others(429): Show ATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ACTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0083 a0002c0010t0005g0083	1	136	0.0074	436	c.47- others(453): Show c.47-23281_47-23280insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTACTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG GTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(429): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	136	0.0074	436	c.47- others(453): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947855	G G	GGTTGGTA others(429): Show GGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTAGTTGGTAGTATTACTCTTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0075 a0001c0008t0002g0075	1	136	0.0074	436	c.47- others(453): Show c.47-22822_47-22821insGTGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTCTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(429): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATATGTTTACACATATATATGT GTAAATATACCTATGTGTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0207 a0002c0002t0008g0207	1	398	0.0025	436	c.477 others(455): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATATTTACACATATATATGTAAATATACCTAT GTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGTTTACAC ATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGT AAATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGT ATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACAC ATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(429): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATATGTTTACACATATATGTGTAA ATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00099.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0120 a0001c0001t0002g0121	2	398	0.0050	436	c.477 others(455): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATATGTTTACACATATATGTGTAAATATACCTATAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTGTATTTACACATATATATGTAAATAT ACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492196	G G	GGATGGAT others(429): Show GGATGGATGGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAG GTGGGTGGATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGG AGGTGGGTGAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGG GTGGGACAATAGATGGATGGATAGAGAGAAGGATGGATGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGAGAGAAGGATGG ATGGTTGAGACAATGGATGGATGGATGGATGGAGAGATGGATGGATGGAC GGATGGACAGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGG ATGGATGGGTGGGGACATGGATGGATGGATGGATGGATGGATGGATGGAT GGACAGAAGGATGTATGGGTGGGGAGGTGGGTGGATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp2 HG03130.hp2 HG01109.hp1 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0163	3	374	0.0080	436	c.772 others(451): Show c.772+940_772+941insTATCCACCCACCTCCCCACCCATACATCCT TCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATGTCCCCACC CATCCATCCTTCAATCCATCCATCCACCTCCCCACCCATCCATCCTTCTG TCCATCCGTCCATCCATCCATCTCTCCATCCATCCATCCATCCATTGTCT CAACCATCCATCCTTCTCTCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTCCCCACCCATCCATCCTTCTCTCTATCCATCCATCTATT GTCCCACCCATCCATCCTTCTATCTATCCATCCATCCATTCATCCACTCA CCCACCTCCCCACCCATCCATCCTTCTGTACATCCATCCATCCATCCATC CACCCACCTCCCTATCCATCCATCCTTCCATCCATCCATTTCCCCATCCA TCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(429): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGAT GGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGGGTGG GGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGATGGAT GGAAGGATGGATGGATGGAGAGGTGGATGGATGGATGGATGGATGGATGG ATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGAT GGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	374	0.0027	436	c.772 others(451): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCATCCATCCACCTCTCCATCCATCCA TCCTTCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACC CACCTCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCA TCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCC CACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCA TCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATC CATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTA TCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(429): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGAT GGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGGATGG ATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGG GTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGAT GGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGG ATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGAT GGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	374	0.0027	436	c.772 others(451): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCC CACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCA TCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATC CATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTA TCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(429): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGATGGAT GGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGG ATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGG AGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGG GTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGAT GGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGG ATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGAT GGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	374	0.0027	436	c.772 others(451): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATC CATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTA TCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(429): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATGGAT GGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAGAAGG ATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGTGGGG AGATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGATGTATGG GTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGATGGGGAAATGGAT GGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGGATGGATGGATGG ATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGATGAATGGAT GGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01081.hp2 others(12): Show HG00280.hp2 HG00642.hp1 HG01081.hp2 HG01123.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02056.hp1 HG02135.hp1 HG02602.hp2 HG03669.hp1 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0057 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0057 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0152 a0001c0004t0001g0067	15	374	0.0401	436	c.772 others(451): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACCTCCCCACC CATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCATCCATCCA TCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATCCATCCATC CATCCATCCATCCATCCATCCATCTCCCCACCCATCCATCCTTCTCTCTA TCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492390	G G	GGAGATGG others(429): Show GGAGATGGATGGATGGATGGATGGATGGATGGATAGAGAGAAGGATGGAT GGTTGAGACAATGGATGGATGGATGGATGGATGGAGAGATGGATGGATGG ATGGATGGACAGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAA GGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGATGGATGGATGG ACAGAAGGATGTATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGAT GGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGG ATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGT GAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGGGTGGGACA ACAGATGGATAGAGAGAAGGATGGATGGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0072 a0001c0006t0002g0072	1	374	0.0027	436	c.772 others(451): Show c.772+746_772+747insTCTCCCCACCCATCCATCCTTCTCTCTATC CATCTGTTGTCCCACCCATCCATCCTTCTATCTATCCATCCATCCATTCA TCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTACATCCATCCATC CATCCATCCACCCACCTCCCTATCCATCCATCCTTCCATCCATCCATTTC CCCATCCATCCATCCATCCATCTATCCACCCACCTCCCCACCCATACATC CTTCTGTCCATCCATCCATCCATCCATCCATCCATCCATCTCCCCACCCG TCCATCCTTCAATCCATCCATCCACCTCCCCACCCATCCATCCTTCTGTC CATCCATCCATCCATCCATCTCTCCATCCATCCATCCATCCATCCATTGT CTCAACCATCCATCCTTCTCTCTATCCATCCATCCATCCATCCATCCATC CATCTC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
FBXO47_chr17_38931432_38972403	38946056	A A	AAATACAT others(429): Show AAATACATAAATATATATAAAATATATAAATACATAAATATATATTTATA TATAAATACATAAATATATATTTATATATAAATACATAAATATATATTTA TATATAAATACATAAATATATATTTATATATAAATACATAAATATATATT TATATATAAATACATAAATATATATTTATATATAAATACATAAATATATA TTTATATATAAATACATAAATATATATTTATATATAAATACATAAATATA TATTTATATATAAATACATAAATATATATTTATATATAATACATAAATAT ATATTTATATATAATACATAAATATATATTTATATATAATACATAAATAT ATATTTATATATAATACATAAATATATATTTATATATAATACATAAATAT ATATTTATATATAATACATAAATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0008 a0008c0008t0008	a0008c0008t0008g0007 a0008c0008t0008g0007	1	344	0.0029	436	c.617 others(451): Show c.617-921_617-920insATATATAAATATATATTTATGTATTATATA TAAATATATATTTATGTATTATATATAAATATATATTTATGTATTATATA TAAATATATATTTATGTATTATATATAAATATATATTTATGTATTATATA TAAATATATATTTATGTATTATATATAAATATATATTTATGTATTTATAT ATAAATATATATTTATGTATTTATATATAAATATATATTTATGTATTTAT ATATAAATATATATTTATGTATTTATATATAAATATATATTTATGTATTT ATATATAAATATATATTTATGTATTTATATATAAATATATATTTATGTAT TTATATATAAATATATATTTATGTATTTATATATAAATATATATTTATGT ATTTATATATAAATATATATTTATGTATTTATATATTTTATATATATTTA TGTATT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(429): Show TCCCGTCCTTCCCCCTCCCCTCCGCTTCCCCCTCCCCTCCTTCCCCCTCC TCTCCTTCCCCCTCCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTC CTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCCACCTCCTTCCGCC TCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCCTCCCCTTCC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CCTCCCCCTTCCCCACCTTCCCCCCCCTCCCCCTTCCCCCTCCTTCCCCC CTCCCTCCCCCTTCCCCCCTCCCCCACCTTCCCTGTCCCCCTCCTTCCCC CTTTCCCCCCTCCCCTCCTTCCCCTTTCCCCCCTTCCCCCCTCCCCTCCT TCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	290	0.0035	436	c.972 others(451): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCGCTTCCCCCTC CCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCCTCCTTCCCCCTCCCCT CCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCC CCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTT CCCCCCCTCCCCTTCCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCC ATCCTCTTCCTTCCCCCCTCCCCCTTCCCCACCTTCCCCCCCCTCCCCCT TCCCCCTCCTTCCCCCCTCCCTCCCCCTTCCCCCCTCCCCCACCTTCCCT GTCCCCCTCCTTCCCCCTTTCCCCCCTCCCCTCCTTCCCCTTTCCCCCCT TCCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCC CTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
IFNAR1_chr21_33319970_33364864	33323264	A A	ATATATAT others(429): Show ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATGTATATATGTGGAATATATATATGGAATGTATATATGTGGAATGTAT ATATGGAATGTATATGTGGAATGTATATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATATA TATGTGGAATGTATATATGGAATATATATGTGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0121 a0003c0003t0023g0121	1	323	0.0031	436	c.-17 others(447): Show c.-1792_-1791insTATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATGTATATATGTGGAATATATATATGGAATGTAT ATATGTGGAATGTATATATGGAATGTATATGTGGAATGTATATATGTGGA ATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTA TATATGTGGAATATATATGTGGAATGTATATATGGAATATATATGTGGAA TG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1705		chr21	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(429): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCT CCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGC CCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCC TGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCC CCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0154 a0001c0001t0054g0154	1	276	0.0036	436	c.65 others(447): Show c.6584_*6585insGGGGGGGAGGGGGGCAGGAGGGGAGGAGGGGAGG GGGGGCAGGAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGG GCAGGAGGGGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAG GGGGCAGGAGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGG GGGAGGGGTACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGG AGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGC AGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGG GGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(429): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18960.hp2 NA19077.hp1 others(1): Show HG01070.hp2 NA18960.hp2 NA19077.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0145 a0001c0002t0001g0059 a0001c0002t0001g0140 others(1): Show a0001c0001t0003g0145 a0001c0002t0001g0059 a0001c0002t0001g0140 a0001c0002t0001g0144	4	232	0.0172	436	c.-67 others(455): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGAACCC others(429): Show AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGG GGGTGGGGGCTGCCTGCTGGACCCCTGAGTGAGGGGGTGGGGGCTGCCAT CAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGA GGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAGTA TCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	330	0.0030	436	c.430 others(451): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCC CCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGGCAGCCCCCACCCCCTCACTCAGGGGTCCAGCAGGCAGCC CCCACCCCCTCACTCAGGGGTCCTGATACTGGCCCCCACCCTCTCACTCA GGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGC CCCCACCCCCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGG GTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCC CTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAG GGTTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(429): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGAT CCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTC AGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAG ATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCAC CTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18948.hp1 HG01070.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0299 a0001c0001t0011g0298 a0001c0001t0002g0299 a0001c0001t0011g0298	2	330	0.0061	436	c.-61 others(453): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTG ATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTG AAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGA TCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGG TGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATC CCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAG GCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(429): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTT CACCTCAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGAT CAGCCTTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCA CCTCAGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTG CCTTCACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGG ATCAGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCAC TCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGC CTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02280.hp2 HG02615.hp2 others(6): Show HG00741.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0052 a0001c0053 others(1): Show a0001c0005 a0001c0052 a0001c0053 a0003c0009	a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 others(3): Show a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0052t0007 a0001c0053t0007 a0003c0009t0006	a0001c0005t0004g0034 a0001c0005t0004g0035 a0001c0005t0005g0033 others(6): Show a0001c0005t0004g0034 a0001c0005t0004g0035 a0001c0005t0005g0033 a0001c0005t0007g0030 a0001c0005t0007g0038 a0001c0005t0007g0041 a0001c0052t0007g0039 a0001c0053t0007g0036 a0003c0009t0006g0037	9	330	0.0273	436	c.-61 others(453): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCC GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTG AAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAG AGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGG TGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATC CTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAG GCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCTCCCCC others(429): Show TCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCT CCCTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCC CCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTC CCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCC TCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTCCCCCT CCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCCTCCCC CTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCC TCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0042 a0001c0001t0023g0042	1	400	0.0025	436	c.121 others(455): Show c.1214-2392_1214-2391insTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTCC CCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCCTC CTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCC CCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCC CCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCCTCCCCCTCC TCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCC CTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCC CCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCTCTCTTCC CCCTGCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(429): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAAGAGGAGGAGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAG GGGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGGAGGAGGAGGGG AGGAGGGGGAGGAGGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGA GGAGGAAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	316	0.0032	436	c.583 others(451): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCTCC CCCTCCTCCCCTCCTCCTCCCTCCTCCCCCCTCCTCCTCTTCCTCATTTT CTCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTT CCTCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCC TCTCCCCCTCCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCCTCCTTC TTCCTCTTCCTCTTCCACTCCCTCTTTTCTCCTCCTCTTTCCTCCTCCTC CATCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCCTCTCCTTCCCCTCTT CCCTCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTT TCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LARS1_chr5_146108034_146187650	146174469	T T	TATATATA others(429): Show TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATGGATATATATATATCCATATA TATCTATCCATATATATATCCATATATATCTATCCATATATATATCCATA TATCTATCCATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATCCATATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18980.hp1 NA19064.hp2 others(2): Show NA18975.hp2 NA18980.hp1 NA19064.hp2 NA19085.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 others(2): Show a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276	5	284	0.0176	436	c.126 others(453): Show c.126-1696_126-1695insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT GGATAGATATATGGATATATATATGGATAGATATATATGGATATATATAT GGATAGATATATATGGATATATATATATCCATATATATGGATATATATAT ATGGATATATATATGGATATATATATATGGATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LFNG_chr7_2514774_2533429	2515038	C C	CTGTCCAT others(429): Show CTGTCCATCCGTCCATCCATCCATCCATCTGTCTGTCTGTCTGCCCATCC ATCTGCCCCTCCATCTAACTGTTCATCCATCCACCTTTCCATCCATCCAT CTATTCATCCATCCATCCATCCGTCCCTCCATCTGTCCATCTGTCTATCC ATTCATTCATCCATCCATCCATTCATCCATCCATGCATCCATCTGTCCAT TCATCCATGCATCCATCCATCCATTCATCTGTCGGTCTGTCTGTCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCTGTCTATCCATCCAT CCATTCATCCATGCATCCATCCATCCATTCGTCTGTCTGTCCATTCACCT ATCCTTCCATCCATCCATGTATCTATCCATTCATCCATCTATCCATCTGT CCATCCATCCATCCGTCCGTCCATCCATCTGTCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp1 others(62): Show HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18906.hp1 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18990.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0074 a0001c0001t0002g0097 a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0002t0001g0001 a0001c0002t0001g0026 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0068 a0002c0006t0001g0001	65	414	0.1570	436	c.-48 others(447): Show c.-4824_-4823insTGTCCATCCGTCCATCCATCCATCCATCTGTCTG TCTGTCTGCCCATCCATCTGCCCCTCCATCTAACTGTTCATCCATCCACC TTTCCATCCATCCATCTATTCATCCATCCATCCATCCGTCCCTCCATCTG TCCATCTGTCTATCCATTCATTCATCCATCCATCCATTCATCCATCCATG CATCCATCTGTCCATTCATCCATGCATCCATCCATCCATTCATCTGTCGG TCTGTCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATC TGTCTATCCATCCATCCATTCATCCATGCATCCATCCATCCATTCGTCTG TCTGTCCATTCACCTATCCTTCCATCCATCCATGTATCTATCCATTCATC CATCTATCCATCTGTCCATCCATCCATCCGTCCGTCCATCCATCTGTCCA TT	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		4735		chr7	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(429): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACAC TTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACCCACACTTACACCCACACTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	290	0.0035	436	c.129 others(453): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACT CACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACG CCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(429): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGTTGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATCTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0282 a0003c0004t0004g0282	1	382	0.0026	436	c.839 others(453): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATCTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(429): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0295 a0003c0004t0004g0295	1	382	0.0026	436	c.839 others(453): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(429): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATCTATATAAATATACATATTTATACACAGATCTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0035 a0003c0004t0004g0035	1	382	0.0026	436	c.839 others(453): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATA CATATTTATACACAGATCTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(429): Show ATATTTATACACAGTTGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01243.hp1 HG00140.hp2 HG00639.hp2 HG01243.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0004 a0003c0017 a0001c0008 a0003c0004 a0003c0017	a0001c0008t0002 a0003c0004t0004 a0003c0017t0001 a0001c0008t0002 a0003c0004t0004 a0003c0017t0001	a0001c0008t0002g0090 a0003c0004t0004g0027 a0003c0017t0001g0102 a0001c0008t0002g0090 a0003c0004t0004g0027 a0003c0017t0001g0102	3	382	0.0079	436	c.839 others(453): Show c.839-2098_839-2097insTATTTATACACAGTTGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATCTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LSS_chr21_46183446_46233774	46184556	C C	CACCACCA others(429): Show CACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGC ACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACG GGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTG ATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGC CCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCC AGCCCTGTGATGGGCACCCACCACCACCACCATCCCAGTGGGCCGGCCAC ACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCC GGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCATCCCAGTGG GCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG02622.hp1 others(6): Show HG01167.hp2 HG02486.hp1 HG02622.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0011 a0003c0003 a0006c0011	a0003c0003t0001 a0006c0011t0001 a0003c0003t0001 a0006c0011t0001	a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0219 others(4): Show a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0219 a0003c0003t0001g0243 a0006c0011t0001g0216 a0006c0011t0001g0217 a0006c0011t0001g0218	9	358	0.0251	436	c.65 others(447): Show c.6547_*6548insCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGATGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGTGGGTGCCCATCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCAC AGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACC CATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGT GCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTG GGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTG GT	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3889		chr21	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGAGGAAC others(429): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	350	0.0029	436	c.30 others(447): Show c.3078_*3079insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(429): Show GCGGGGTGCTGACCCCCCCACCTCCCCTCCCGGACGGGGCAGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTC CCTTCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	300	0.0033	436	c.134 others(455): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCC CATCCGGAAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGGAGGTGGGGGGGT CAGCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(429): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	300	0.0033	436	c.134 others(455): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(429): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA19076.hp1 HG02698.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	436	c.-31 others(447): Show c.-3142_-3141insTATATATAATTTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATAATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATATATAATTATATATAAATTATATATTATATAATTATATTATATT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(429): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAAATTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0031 a0008c0014t0001g0031	1	288	0.0035	436	c.-31 others(447): Show c.-3142_-3141insTATATACAATTTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATAATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATATATAATTATATATAAATTATATATTATATAATTATATTATATT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(429): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA19007.hp2 HG04115.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0013t0001g0028 a0001c0001t0001g0001 a0001c0013t0001g0028	2	288	0.0069	436	c.-31 others(447): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATAATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATATATAATTATATATAAATTATATATTATATAATTATATTATATT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(429): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATTATATATAAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	436	c.-31 others(447): Show c.-3142_-3141insTATATATAATTTATATATAATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATAATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATATATAATTATATATAAATTATATATTATATAATTATATTATATT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(429): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATTATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATTATATAATTATATAATATATAAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	436	c.-31 others(447): Show c.-3142_-3141insTATATATAATTTATATATTATATAATTATATAAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATAATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATATATAATTATATATAAATTATATATTATATAATTATATTATATT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18979.hp1 HG00738.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0066 a0001c0001t0004g0066 a0001c0001t0001g0066 a0001c0001t0004g0066	2	390	0.0051	436	c.112 others(453): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp2 HG03704.hp1 others(4): Show HG02109.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp1 NA18983.hp2 NA19081.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0006 a0001c0004t0001g0070 a0001c0001t0002g0006 a0001c0004t0001g0070	7	390	0.0180	436	c.112 others(453): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(429): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19058.hp2 NA19079.hp1 HG00673.hp2 NA19058.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	3	390	0.0077	436	c.112 others(453): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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