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
IFT88_chr13_20562157_20696444	20692961	T T	TAGAAACC others(303): Show TAGAAACCAGTCATCGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0012 a0001c0004t0001g0008 a0001c0004t0001g0012	2	306	0.0065	310	c.17 others(321): Show c.1786_*1787insAGAAACCAGTCATCGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCCACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAA	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding		1518		chr13	TogoVar
IL10RB_chr21_33261367_33302221	33277664	C C	CTTTTCTT others(303): Show CTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC TCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	416	0.0024	310	c.331 others(325): Show c.331+914_331+915insTCTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTTTTTTT	IL10RB	ENSG00000243646.11	transcript	ENST00000290200.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
IL1RAPL1_chrX_28582446_29961718	29103521	G G	GAAGAAAA others(303): Show GAAGAAAACACTGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03195.hp1 HG02572.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0010g0046 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0010g0046	3	135	0.0222	310	c.83- others(329): Show c.83-179402_83-179401insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAGAAAACACTGGGG	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1352983	A A	ACCCCCTA others(303): Show ACCCCCTATCATGGGTTCCATCATGGGTCATGGGACACCCCCCATCATGG GTTCCACCATGAGTCATGGGATCCCTCATCGTGGGTTCCATCATGGGTCA TGGGACCCCCCATCATGGGTTCCATCATGGGTAATAGGACTCCCCCATCA TGGGTTCCACCATGAGTCATGGGATCCCTTATCATGGATTCCATCATGGG TCATGGGACCCCCCATCATGGGTTCCATCATGAGTCATGGGATCCCTCAT CGTGGGTTCCATCATGGGTCATGGGACCCCCCATCATGGGTTCCATCATG GGTAATAGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	113	0.0088	310	c.616 others(325): Show c.616+477_616+478insCCCCCTATCATGGGTTCCATCATGGGTCAT GGGACACCCCCCATCATGGGTTCCACCATGAGTCATGGGATCCCTCATCG TGGGTTCCATCATGGGTCATGGGACCCCCCATCATGGGTTCCATCATGGG TAATAGGACTCCCCCATCATGGGTTCCACCATGAGTCATGGGATCCCTTA TCATGGATTCCATCATGGGTCATGGGACCCCCCATCATGGGTTCCATCAT GAGTCATGGGATCCCTCATCGTGGGTTCCATCATGGGTCATGGGACCCCC CATCATGGGTTCCATCATGGGTAATAGGAC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11			chrX	TogoVar
IRAK2_chr3_10159919_10248745	10208462	T T	TAAAAAAA others(303): Show TAAAAAAAAATCTGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02155.hp1 HG02647.hp1 others(12): Show HG00544.hp2 HG02155.hp1 HG02647.hp1 HG02809.hp1 HG03041.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp1 NA18969.hp2 NA18970.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0004c0005t0009 a0001c0001t0001 a0004c0005t0001 a0004c0005t0009	a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0037 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0256 a0004c0005t0001g0051 a0004c0005t0001g0053 a0004c0005t0001g0275 a0004c0005t0009g0195	15	264	0.0568	310	c.425 others(327): Show c.425-1115_425-1114insGGGCTGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAATCT	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAAGAT others(303): Show TACAAGATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp1 HG01346.hp1 others(9): Show HG01069.hp2 HG01175.hp1 HG01346.hp1 HG02109.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03130.hp1 HG03516.hp1 NA18942.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121	12	70	0.1714	310	c.961 others(327): Show c.961-1734_961-1733insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCACAAGATTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH5_chr14_62694464_63050458	62754962	T T	TAAAGAGA others(303): Show TAAAGAGACAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	169	0.0059	310	c.201 others(331): Show c.2019+24765_2019+24766insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTTTGTCTCTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(303): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATAATATATATTATATATAATTCTATATATATAATATATATTATATATAT AATTCTATATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATAATATATATTATATATATAATTCTATATAT AATATATATTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	4	0.2500	310	c.62- others(329): Show c.62-463507_62-463506insTAATATATATTATATATAGAATTATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATAGA ATTATATATATAATATATATTATATATATAGAATTATATATATAATATAT ATTATATATATAGAATTATATATAATATATATTATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(303): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATAATATATATTATATATATAATTCTATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATAATATATATTATATATATAATTCTATATAT AATATATATTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	4	0.2500	310	c.62- others(329): Show c.62-463507_62-463506insTAATATATATTATATATAGAATTATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATATAGAATTATATATATAATATATATTATATATAGA ATTATATATATAATATATATTATATATAGAATTATATATATAATATATAT TATATATATAGAATTATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(303): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT ATAATTCTATATATATAATATATATTATATATATAATTCTATATATAATA TATATTATATATATAATTCTATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATAATTCTATATATATAATATATATT ATATATATAATTCTATATATAATATATATTATATATATAATTCTATATAT AATATATATTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	4	0.2500	310	c.62- others(329): Show c.62-463507_62-463506insTAATATATATTATATATAGAATTATA TATATAATATATATTATATATAGAATTATATATATAATATATATTATATA TATAGAATTATATATATAATATATATTATATATATAGAATTATATATATA ATATATATTATATATAGAATTATATATATAATATATATTATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATATAATATATAT TATATATATAGAATTATATATAATATATATTATATATATAGAATTATATA TATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21519596	A A	ATATACAC others(303): Show ATATACACATATGTGTGTATATGTATGTGTATATACACATATGTGTATAT GTATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACATGTGT GTATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGTATATACAC ATGTGTGTATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGTAT GTGTATATACACATGTGTGTATGTGTATGTGTATATACACATGTGTGTAT GTGTATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACATGT GTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	76	0.0132	310	c.61+ others(329): Show c.61+428974_61+428975insCACACATACACACATGTGTATATACA CATACACATACACACATGTGTATATACACATACACATACACACATGTGTA TATACACATACACATACACACATGTGTATATACACATACACATACACATA CACACATGTGTATATACACATACACATACACACATGTGTATATACACATA CACATACACACATGTGTATATACACATACACATACACACATGTGTATATA CACATACACATACACACATGTGTATATACACATACATATACACATATGTG TATATACACATACATATACACACATATGTGTATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	257	0.0039	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0066 a0001c0003t0022g0066	1	257	0.0039	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATCATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18956.hp1 NA19088.hp2 HG01934.hp1 NA18956.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0018 a0001c0001t0035 a0002c0004t0009 a0001c0001t0018 a0001c0001t0035 a0002c0004t0009	a0001c0001t0018g0090 a0001c0001t0035g0089 a0002c0004t0009g0091 a0001c0001t0018g0090 a0001c0001t0035g0089 a0002c0004t0009g0091	3	259	0.0116	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02083.hp1 NA19062.hp2 HG00621.hp2 HG02083.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0074 a0001c0003t0002 a0001c0003t0003 a0001c0001t0074 a0001c0003t0002 a0001c0003t0003	a0001c0001t0074g0049 a0001c0003t0002g0070 a0001c0003t0003g0100 a0001c0001t0074g0049 a0001c0003t0002g0070 a0001c0003t0003g0100	3	259	0.0116	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATCATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATGATATGGTATATCATA TACCATATCATATGGTATATGATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0069 a0001c0001t0099g0069	1	257	0.0039	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATCATATACCATATGATATGGTATATGATATACCATATCA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATGATATGGTATATCATA TACCATATGATATGGTATATGATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0068 a0001c0001t0014g0068	1	257	0.0039	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATCATATACCATATCATATGGTATATGATATACCATATCA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp1 HG02109.hp1 others(3): Show HG01257.hp2 HG01928.hp1 HG02109.hp1 HG02165.hp1 NA18969.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0089 a0001c0002t0002 a0001c0003t0080	a0001c0001t0001g0074 a0001c0001t0002g0075 a0001c0001t0005g0076 others(3): Show a0001c0001t0001g0074 a0001c0001t0002g0075 a0001c0001t0005g0076 a0001c0001t0089g0200 a0001c0002t0002g0023 a0001c0003t0080g0024	6	262	0.0229	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATCATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CATATACC others(303): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATGA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATGATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp2 HG01258.hp1 others(2): Show HG01192.hp1 HG01256.hp2 HG01258.hp1 NA18961.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0002 a0001c0003t0041 a0002c0004t0009 a0001c0003t0002 a0001c0003t0041 a0002c0004t0009	a0001c0003t0002g0061 a0001c0003t0041g0062 a0001c0003t0041g0063 others(2): Show a0001c0003t0002g0061 a0001c0003t0041g0062 a0001c0003t0041g0063 a0002c0004t0009g0059 a0002c0004t0009g0060	5	261	0.0192	310	c.52+ others(327): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATCATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATCATATACCATATGATA TGGTATATCATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(303): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCTCGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	189	0.0053	310	c.-67 others(329): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCTCGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758189	G G	GATATATA others(303): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	173	0.0058	310	c.-67 others(329): Show c.-67-49131_-67-49130insAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATA TATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(303): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATGTATA TATTTATATATAAATATATATTTATATATTTATATATATTTATATATATA CATAAATATATATTTATATATATTTATATATATACATAAATATATATTTA TATATAAATATATATTTATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02965.hp1 others(3): Show HG02622.hp2 HG02723.hp1 HG02965.hp1 HG03041.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0003g0089 a0001c0001t0003g0102	6	55	0.1091	310	c.639 others(327): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATAAATATATATTTATATATAAATATATATTTATGT ATATATATAAATATATATAAATATATATTTATGTATATATATAAATATAT ATAAATATATAAATATATATTTATATATAAATATATACATAAATATATAT AAAAATATATATTTATATATAAATATATATAAAAATATATATTTATATAT AAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(303): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAAGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGC GCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCG CTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01517.hp2 others(1): Show HG01074.hp2 HG01515.hp2 HG01517.hp2 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0019 a0001c0006t0005 a0001c0006t0019	a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0138 others(1): Show a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0138 a0001c0006t0019g0139	4	63	0.0635	310	c.317 others(327): Show c.317+1447_317+1448insCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAAAGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(303): Show AGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0063 a0001c0003t0004g0063	1	60	0.0167	310	c.317 others(327): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGTGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(303): Show AGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	60	0.0167	310	c.317 others(327): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGTGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(303): Show AGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGTGGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0054 a0001c0003t0004g0054	1	60	0.0167	310	c.317 others(327): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGTGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(303): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAA CGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0052 a0001c0003t0004g0052	1	285	0.0035	310	c.317 others(327): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245443989	C C	CACTGTTC others(303): Show CACTGTTCACCTAGAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCAT CTCCCTCACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGG TCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACC TAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCAGTCATCT CCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01071.hp1 others(8): Show HG00408.hp1 HG00639.hp2 HG01071.hp1 HG01192.hp2 HG02056.hp2 HG02698.hp1 HG02723.hp2 HG03098.hp2 NA19002.hp1 NA19011.hp2 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0055 a0002c0006 a0002c0030 a0002c0031 a0005c0017 a0005c0058 a0006c0015	a0001c0001t0002 a0001c0002t0005 a0001c0004t0013 others(7): Show a0001c0001t0002 a0001c0002t0005 a0001c0004t0013 a0001c0055t0027 a0002c0006t0021 a0002c0030t0074 a0002c0031t0076 a0005c0017t0009 a0005c0058t0079 a0006c0015t0060	a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0141 others(8): Show a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0141 a0001c0004t0013g0103 a0001c0055t0027g0080 a0002c0006t0021g0025 a0002c0030t0074g0021 a0002c0031t0076g0030 a0005c0017t0009g0146 a0005c0058t0079g0043 a0006c0015t0060g0004	11	153	0.0719	310	c.116 others(331): Show c.1166+24275_1166+24276insCGTTCACCCTGCGGTCATCTCCCT CACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGC GGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGT TCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCAGTCATCTCCCTCA CTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCT CCCTTACTGTTCACCTAGAGCGGTCATCTCCCTCAC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245443989	C C	CACTGTTC others(303): Show CACTGTTCACCTAGAGCGGTCATCTCCCTCACCGTTCACCCTGCGGTCAT CTCCCTCACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGG TCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACC TAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02723.hp1 HG02976.hp1 others(2): Show HG00738.hp1 HG02723.hp1 HG02976.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0009 others(2): Show a0001c0002 a0001c0004 a0001c0009 a0001c0013 a0001c0022	a0001c0002t0050 a0001c0004t0040 a0001c0009t0012 others(2): Show a0001c0002t0050 a0001c0004t0040 a0001c0009t0012 a0001c0013t0001 a0001c0022t0055	a0001c0002t0050g0102 a0001c0004t0040g0113 a0001c0009t0012g0099 others(2): Show a0001c0002t0050g0102 a0001c0004t0040g0113 a0001c0009t0012g0099 a0001c0013t0001g0053 a0001c0022t0055g0139	5	147	0.0340	310	c.116 others(331): Show c.1166+24275_1166+24276insCGTTCACCCTGCGGTCATCTCCCT CACCGTTCACCCTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCT CCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGC GGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGT TCACCCTGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCA CTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCT CCCTTACTGTTCACCTAGAGCGGTCATCTCCCTCAC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF2A_chr5_62301206_62396025	62339523	T T	TCTGTATT others(303): Show TCTGTATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	162	0.0062	310	c.65- others(325): Show c.65-7596_65-7595insTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGTATTTCTT	KIF2A	ENSG00000068796.19	transcript	ENST00000407818.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr5	TogoVar
KLHL18_chr3_47277944_47351816	47316734	T T	TACATATA others(303): Show TACATATATACGTATGTGTGTATATATATACATATATACGTATGTGTGTA TATATATACATATATACGTATGTGTGTATATGTGTGTATATATACATATA TACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGTA TATGTGTGTATATACACATATATACGTATATATGTATATGTGTGTATATA CACATATATACGTATATATGTATATGTGTGTATATACACATATATACGTA TATATGTATATGTATATATGTGTATATATACACATATATACGTATATATG TGTATATATAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0215 a0001c0001t0007g0215	1	52	0.0192	310	c.130 others(327): Show c.130-2905_130-2904insGTGTGTATATATATACATATATACGTAT GTGTGTATATATATACATATATACGTATGTGTGTATATGTGTGTATATAT ACATATATACGTATATATGTATATGTGTGTATATATACATATATACGTAT ATATGTATATGTGTGTATATACACATATATACGTATATATGTATATGTGT GTATATACACATATATACGTATATATGTATATGTGTGTATATACACATAT ATACGTATATATGTATATGTATATATGTGTATATATACACATATATACGT ATATATGTGTATATATACACATATATACGTAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(303): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0341 a0001c0001t0035g0341	1	354	0.0028	310	c.997 others(327): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LDLRAD4_chr18_13213760_13657751	13288706	G G	GGGGCCAT others(303): Show GGGGCCATGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGAGTC ACGGGGCCACGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGAG TCACGGGGCCACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCAAGGTG AGTCACGGGCCACGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGT GAGTCACGGGGCCACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCAAG GTGAGTCACGGGGCCACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCA AGGTGAGTCAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0039 a0001c0001t0031g0039	1	176	0.0057	310	c.-38 others(331): Show c.-383+10524_-383+10525insTGGTAGCAGCCCCGCAGACCGTGG TCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCGCAGACCGT GGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAGACC GTGGTCACTCTGCAAGGTGAGTCACGGGCCACGGTAGCAGCCCCGCAGAC CGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCACAG ACCGTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCAC AGACCGTGGTCACTCTGCAAGGTGAGTCACGGGCCA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LGI2_chr4_24993847_25035946	25017850	T T	TAGAATGT others(303): Show TAGAATGTTTACCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0367 a0001c0001t0013g0367	1	447	0.0022	310	c.655 others(325): Show c.655+138_655+139insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCT CGGCCTCCCAAAGTGCTGGGTAAACATTCT	LGI2	ENSG00000153012.12	transcript	ENST00000382114.9	protein_coding	6/7			chr4	TogoVar
LOC122539214_chr19_52645447_52695496	52660439	T T	TGAAATCC others(303): Show TGAAATCCTGTCTCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCCAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02257.hp1 HG02258.hp2 others(6): Show HG00735.hp2 HG02257.hp1 HG02258.hp2 HG02615.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03516.hp2 NA19240.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0007 a0006c0009 others(1): Show a0001c0001 a0006c0007 a0006c0009 a0007c0006	a0001c0001t0006 a0006c0007t0006 a0006c0009t0006 others(1): Show a0001c0001t0006 a0006c0007t0006 a0006c0009t0006 a0007c0006t0012	a0001c0001t0006g0219 a0006c0007t0006g0019 a0006c0007t0006g0020 others(6): Show a0001c0001t0006g0219 a0006c0007t0006g0019 a0006c0007t0006g0020 a0006c0007t0006g0217 a0006c0007t0006g0270 a0006c0007t0006g0414 a0006c0009t0006g0056 a0006c0009t0006g0057 a0007c0006t0012g0218	9	446	0.0202	310	c.63+ others(323): Show c.63+322_63+323insTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTGGCCGGGATGGTCTCGATCTCTTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAGAGACAGGATTTC	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	2/3			chr19	TogoVar
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(303): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18961.hp1 NA19060.hp1 others(2): Show NA18942.hp1 NA18961.hp1 NA19060.hp1 NA19062.hp2 NA19084.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0008 a0005c0005t0006g0008	5	317	0.0158	310	c.893 others(325): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(303): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp2 HG02155.hp1 others(12): Show HG01928.hp1 HG01993.hp2 HG02155.hp1 NA18612.hp2 NA18944.hp1 NA18952.hp2 NA18965.hp2 NA18970.hp2 NA18986.hp2 NA18995.hp2 NA19000.hp1 NA19056.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0006 a0005c0005t0006	a0005c0005t0006g0005 a0005c0005t0006g0052 a0005c0005t0006g0005 a0005c0005t0006g0052	15	327	0.0459	310	c.893 others(325): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRP2_chr2_169122109_169367534	169238512	T T	TAAAATAG others(303): Show TAAAATAGACTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAT TAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAG ATCGCGCCACTGCACTCCAGCCTGGGCGACGGAGCGAAACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0043 a0043	a0043c0097 a0043c0097	a0043c0097t0008 a0043c0097t0008	a0043c0097t0008g0038 a0043c0097t0008g0038	1	238	0.0042	310	c.429 others(327): Show c.4295-211_4295-210insTTTTTTTTTTTTTGAGACGGAGTTTCGC TCCGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAAGAGTCTATTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	26/78			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(303): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	6	0.1667	310	c.368 others(327): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC4C_chr11_40109209_41464652	40776000	C C	CAAAAGGA others(303): Show CAAAAGGATTTTCTGTACACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGAGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0010 a0001c0001t0001g0004 a0001c0002t0001g0010	2	45	0.0444	310	c.-40 others(333): Show c.-406-127723_-406-127722insTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGTACAGAAAATCCTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
MACROD2_chr20_13990516_16058197	15007007	T T	TAAAAAAA others(303): Show TAAAAAAAATACTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	24	0.0417	310	c.419 others(331): Show c.419-222918_419-222917insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATACTGTC	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAP3K21_chr1_233322724_233390148	233383384	T T	TAAAAGCT others(303): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0135 a0002c0002t0054g0135	1	268	0.0037	310	c.68 others(319): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAGCTTTACTGA	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10	688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(303): Show TATATATACATGCATGTGATGCATATATATACATGCATGTGATGCATATA TATACATGCATGTGATGCATATATATACATGCATGTGATGCATATATATA CATGCATGTGATGCATATATATACATGCATGTGATGCATATATATACATG CATGTGATGCATATATATACATGCATGTGATGCATATATACATGCATGTG ATGCATATATACATGCATGTGATGCATATATACATGCATGTGATGCATAT ATACATGCATGTGATGCATATATACATGCATGTGATGCATATATATACAT GCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0075 a0002c0003t0008g0075	1	73	0.0137	310	c.-38 others(329): Show c.-38-40740_-38-40739insGCATCACATGCATGTATATATATGCA TCACATGCATGTATATATGCATCACATGCATGTATATATGCATCACATGC ATGTATATATGCATCACATGCATGTATATATGCATCACATGCATGTATAT ATGCATCACATGCATGTATATATATGCATCACATGCATGTATATATATGC ATCACATGCATGTATATATATGCATCACATGCATGTATATATATGCATCA CATGCATGTATATATATGCATCACATGCATGTATATATATGCATCACATG CATGTATATATATGCATCACATGCATGTATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARK1_chr1_220523136_220669461	220576003	C C	CCCTCCCT others(303): Show CCCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTT CCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTT CCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCC TCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACT TCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCT TCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTC CTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	296	0.0034	310	c.52- others(325): Show c.52-3351_52-3350insCCTCCCTCCCTCCCCCTCCCTCCCTCCCTC CTTCCCCCCTCCCCCCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTC CTTTCCTCCTTCCCTCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCT TTCCTCCTTCCCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCT TCCTTCCCTCCTTCCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCC CTCCTTCCTTTCTTCTTTCCTTCCTTCCTT	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17			chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(303): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACTT CTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCCT CCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCC TTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	3	0.3333	310	c.52- others(325): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTC CTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTC CCTCCTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTT CTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(303): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACTT CTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCTT CCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCC TTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(103): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG03017.hp2 HG03239.hp1 HG03486.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0152 others(101): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0010g0196 a0001c0001t0015g0274 a0001c0004t0001g0194	106	108	0.9815	310	c.52- others(325): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTC CTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTC CCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTT CTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(303): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCC TTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0246	3	5	0.6000	310	c.52- others(325): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTT CTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(303): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCTACTT CTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCCTCTT CCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCTTTCC TTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01517.hp1 HG02055.hp2 others(17): Show HG01109.hp2 HG01517.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0129 others(17): Show a0001c0001t0001g0035 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0290 a0001c0001t0002g0145	20	22	0.9091	310	c.52- others(325): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTC CTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTC CCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTT CTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66721537	T T	TCCTTGAC others(303): Show TCCTTGACCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0044 a0001c0003t0029g0044	1	101	0.0099	310	c.364 others(329): Show c.364-38160_364-38159insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTTGACCTCTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(303): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATAGATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	129	0.0078	310	c.343 others(327): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATCTATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar

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