Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(766): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGCGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCA GAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp2 HG00609.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0169 a0001c0001t0002g0092 a0001c0001t0002g0169	2	242	0.0083	773	c.360 others(792): Show c.360+26940_360+26941insTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCT GACCGCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(766): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCA GAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	773	c.360 others(792): Show c.360+26940_360+26941insTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCT GACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(766): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAG TCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	242	0.0041	773	c.360 others(792): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCT TGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCT GCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTC TCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGT TCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCG TGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDE3A_chr12_20363537_20693583	20386957	T T	TAAGAAAG others(766): Show TAAGAAAGGGGTCCATGCAAATCAAAACCACTATGAGATATCATCTCACA CCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAA GGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGTCTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAA CACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGG ACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGA GGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTA GTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTGAGAGTATAATAAAAAAAAAAAA AAAGAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	198	0.0051	773	c.960 others(792): Show c.960+16727_960+16728insTGCAAATCAAAACCACTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGTCTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTGAGAGTATAATAAA AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAGAAAGGGGTCCA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109353988	T T	TGTCTATG others(766): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAG AGATATCTATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCAAGAGAT GTCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCT ATGATATCTAGAGATGTCTATAGAGTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGA TATCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGA GATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAG ATATCTATGCTATCTAGAGATATCTATAGATTAGATATCTGTGATATCTA GAGATATCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATT GGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATC TAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATATCTATAGA TTAGATAGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAG AGATATCTATAGATTAGATATCTA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0302 a0003c0003t0002g0302	1	346	0.0029	773	c.176 others(792): Show c.1764+1926_1764+1927insTAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTAATC TATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCCAA TCTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATATCTCTA GATATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATC TCTAGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGAT ATCTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAA TCTCTAGACATCATAGATATCTACTCTATAGACATCTCTAGATATCATAG ATATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGACAT CTCTTGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATAT CTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTCT AGATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(766): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCACCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0213 a0003c0004t0007g0213	1	312	0.0032	773	c.306 others(792): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCACCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397980	C C	CCTGTCCT others(766): Show CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0280 a0001c0017t0011g0286 a0001c0017t0011g0280 a0001c0017t0011g0286	2	340	0.0059	773	c.227 others(790): Show c.227+3860_227+3861insTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATC TCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTG TCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTG GGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGCTGTCCTCACCAGCCTTGTCATCTCTGAGTT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCTGTCCTCACCAGCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGS12_chr4_3288021_3444913	3341673	A A	AGGGTGGA others(766): Show AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGG AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGG AGGGTGGAGGGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0051 a0005c0051	a0005c0051t0001 a0005c0051t0001	a0005c0051t0001g0153 a0005c0051t0001g0153	1	312	0.0032	773	c.188 others(792): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGG GTGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGAT GGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGG GTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGG GTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGGGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCAGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02451.hp1 others(1): Show HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02717.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0008 a0003c0009 a0001c0002 a0001c0008 a0003c0009	a0001c0002t0004 a0001c0008t0015 a0003c0009t0017 a0001c0002t0004 a0001c0008t0015 a0003c0009t0017	a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0008t0015g0043 others(1): Show a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0008t0015g0043 a0003c0009t0017g0042	4	44	0.0909	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCTGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCGGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATATTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCGTAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01978.hp2 HG01243.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0005t0005 a0001c0001t0008 a0001c0005t0005	a0001c0001t0008g0024 a0001c0005t0005g0004 a0001c0001t0008g0024 a0001c0005t0005g0004	2	44	0.0455	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTACGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAATATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCCGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCGGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGCTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0036 a0001c0002t0004g0017 a0001c0001t0003g0036 a0001c0002t0004g0017	2	44	0.0455	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAGCAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCCGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCGGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01884.hp1 others(18): Show HG01109.hp1 HG01109.hp2 HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02717.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0003t0006 a0001c0007t0003 a0003c0006t0006 a0004c0010t0002	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0005g0005 a0001c0001t0005g0035 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0012g0027 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0003g0016 a0001c0002t0004g0021 a0001c0002t0016g0044 a0001c0003t0006g0018 a0001c0007t0003g0003 a0001c0007t0003g0032 a0003c0006t0006g0011 a0003c0006t0006g0040 a0004c0010t0002g0031	21	44	0.4773	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCCGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCGGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCGTAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02922.hp1 others(1): Show HG02055.hp1 HG02109.hp2 HG02922.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0002c0004	a0001c0001t0002 a0001c0008t0003 a0001c0011t0001 others(1): Show a0001c0001t0002 a0001c0008t0003 a0001c0011t0001 a0002c0004t0001	a0001c0001t0002g0039 a0001c0008t0003g0037 a0001c0011t0001g0038 others(1): Show a0001c0001t0002g0039 a0001c0008t0003g0037 a0001c0011t0001g0038 a0002c0004t0001g0015	4	44	0.0909	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTACGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCCGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527829	T T	TAGAATTT others(766): Show TAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTTCAGCAGGAAGGTC AGTGATGGGCTGGAATGGAGATGTAGCAGATATTGACACTTCCGTATGAA AAAAATAATCGGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGA CCTTGGTAATTCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATA ATCAATACCTCCTTGAAATACAAATGAATTAAGTGTGTAAGTGTTCAAGT CCAATTGTCCTTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTA CCGCTCAGCAAGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGA GGAATTGTTACCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGA AGTAAGGTCAAAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTA GCTAGGACCAAGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGA AAATGCAACCTCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAG AGGGAGGAGCAAAATAAACAACCAGACATGATTACATAGTTTATCTCATT CAAGACAACCTTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAAT TTGGTTGTGTATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATT TTCAGGTAAAGGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATC TCTCTTGACATGAACACTGAGTTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	44	0.0227	773	c.88+ others(790): Show c.88+61994_88+61995insCAACTCAGTGTTCATGTCAAGAGAGATT GAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTACCTGAAAATG TCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACACAACCAAATTT CTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTTGTCTTGAATG AGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTCCTCCCTCTCC CTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTTGCATTTTCAT TTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGTCCTAGCTAAA AGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGACCTTACTTCTC CAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAACAATTCCTCCC ATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCTGAGCGGTAGA GTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGACAATTGGACTT GAACACTTACACACTTAATTCATTTGTATTTCAAGGAGGTATTGATTATT TCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTACCAAGGTCTG AGAGTCAGTATTCACACACACCTTGTAGAGGGGCCCGATTATTTTTTTCA TACGGAAGTGTCAATATCTGCTACATCTCCATTCCAGCCCATCACTGACC TTCCTGCTGAACTTCAACTGGATGCAAAACAAACCCACAAATTCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527939	G G	GGGCCCCT others(766): Show GGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGACCTTGGTAAT TCCAAAGATATTGTAATTACCTCCTTTTGTCATTGAAATAATCAATACCT CCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGTCCAATTGTCC TTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTACCGCTCAGCA AGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGAGGAATTGTTA CCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGAAGTAAGGTCA AAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTAGCTAGGACCA AGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGAAAATGCAACC TCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAGAGGGAGGAGC AAAATAAACAACCAGACATGATTACATAGTTTATCTCATTCAAGACAACC TTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAATTTGGTTGTGT ATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATTTTCAGGTAAA GGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATCTCTCTTGACA TGAACACTGAGTTGAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTT CAGCAGGAAGGTCAGTGATGGGCTGGAATGGAGATGTAGCAGATATTGAC ACTTCCGTATGAAAAAAATAATCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	44	0.0227	773	c.88+ others(790): Show c.88+61884_88+61885insTGATTATTTTTTTCATACGGAAGTGTCA ATATCTGCTACATCTCCATTCCAGCCCATCACTGACCTTCCTGCTGAACT TCAACTGGATGCAAAACAAACCCACAAATTCTCAACTCAGTGTTCATGTC AAGAGAGATTGAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTA CCTGAAAATGTCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACAC AACCAAATTTCTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTT GTCTTGAATGAGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTC CTCCCTCTCCCTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTT GCATTTTCATTTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGT CCTAGCTAAAAGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGAC CTTACTTCTCCAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAAC AATTCCTCCCATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCT GAGCGGTAGAGTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGAC AATTGGACTTGAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGT ATTGATTATTTCAATGACAAAAGGAGGTAATTACAATATCTTTGGAATTA CCAAGGTCTGAGAGTCAGTATTCACACACACCTTGTAGAGGGGCC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527939	G G	GGGCCCCT others(766): Show GGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGACCTTGGTAAT TCCAAAGATATTGTAATTATCTCCTTTTGTCATTGAAATAATCAATACCT CCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGTCCAATTGTCC TTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTACCGCTCAGCA AGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGAGGAATTGTTA CCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGAAGTAAGGTCA AAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTAGCTAGGACCA AGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGAAAATGCAACC TCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAGAGGGAGGAGC AAAATAAACAACCAGACATGATTACATAGTTTATCTCATTCAAGACAACC TTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAATTTGGTTGTGT ATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATTTTCAGGTAAA GGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATCTCTCTTGACA TGAACACTGAGTTGAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTT CAGCAGGAAGGTCAGTGATGGGCTGGAATGGAGATGTAGCAGATATTGAC ACTTCCGTATGAAAAAAATAATCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03041.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG03041.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0011 a0001c0002t0013 a0002c0004t0007 a0001c0001t0011 a0001c0002t0013 a0002c0004t0007	a0001c0001t0011g0025 a0001c0002t0013g0008 a0002c0004t0007g0009 others(1): Show a0001c0001t0011g0025 a0001c0002t0013g0008 a0002c0004t0007g0009 a0002c0004t0007g0010	4	44	0.0909	773	c.88+ others(790): Show c.88+61884_88+61885insTGATTATTTTTTTCATACGGAAGTGTCA ATATCTGCTACATCTCCATTCCAGCCCATCACTGACCTTCCTGCTGAACT TCAACTGGATGCAAAACAAACCCACAAATTCTCAACTCAGTGTTCATGTC AAGAGAGATTGAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTA CCTGAAAATGTCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACAC AACCAAATTTCTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTT GTCTTGAATGAGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTC CTCCCTCTCCCTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTT GCATTTTCATTTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGT CCTAGCTAAAAGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGAC CTTACTTCTCCAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAAC AATTCCTCCCATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCT GAGCGGTAGAGTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGAC AATTGGACTTGAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGT ATTGATTATTTCAATGACAAAAGGAGATAATTACAATATCTTTGGAATTA CCAAGGTCTGAGAGTCAGTATTCACACACACCTTGTAGAGGGGCC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79527939	G G	GGGCCCCT others(766): Show GGGCCCCTCTACAAGGTGTGTGTGAATACTGACTCTCAGACCTTGGTAAT TCCAAAGGTATTGTAATTATCTCCTTTTGTCATTGAAATAATCAATACCT CCTTGAAATACAAATGAATTAAGTGTGTAAATGTTCAAGTCCAATTGTCC TTTTTAAAAACATTTAGACTAGGAGAGAGTGGTTACTCTACCGCTCAGCA AGAAAATACTCTTGAAAATAGCCTTGGGTTTTTGATGGGAGGAATTGTTA CCTTTATTTTCTTCACTAGATCAGGGGACAAACCTGGAGAAGTAAGGTCA AAATAATCTATCTAGTGTAAAGAGAAGACACCAACTTTTAGCTAGGACCA AGAAAAAAGAAAGAGAATGTAATGTTGGGGATGGAAATGAAAATGCAACC TCTTTTCTGTCCCTGGGATTTTGTTGTTAACAAGAGGGAGAGGGAGGAGC AAAATAAACAACCAGACATGATTACATAGTTTATCTCATTCAAGACAACC TTAGAGTAAACAGAGATGCATAAAATCATCGGAAAGAAATTTGGTTGTGT ATTATAAAGTTGTAGAACAGGCACTTTAACCCAAGACATTTTCAGGTAAA GGAGGAGCCCTAAGTTTAACTTTCCTAGCTGTCCTCAATCTCTCTTGACA TGAACACTGAGTTGAGAATTTGTGGGTTTGTTTTGCATCCAGTTGAAGTT CAGCAGGAAGGTCAGTGATGGGCTGGAATGGAGATGTAGCAGATATTGAC ACTTCCGTATGAAAAAAATAATCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0002g0029 a0001c0005t0002g0030	2	44	0.0455	773	c.88+ others(790): Show c.88+61884_88+61885insTGATTATTTTTTTCATACGGAAGTGTCA ATATCTGCTACATCTCCATTCCAGCCCATCACTGACCTTCCTGCTGAACT TCAACTGGATGCAAAACAAACCCACAAATTCTCAACTCAGTGTTCATGTC AAGAGAGATTGAGGACAGCTAGGAAAGTTAAACTTAGGGCTCCTCCTTTA CCTGAAAATGTCTTGGGTTAAAGTGCCTGTTCTACAACTTTATAATACAC AACCAAATTTCTTTCCGATGATTTTATGCATCTCTGTTTACTCTAAGGTT GTCTTGAATGAGATAAACTATGTAATCATGTCTGGTTGTTTATTTTGCTC CTCCCTCTCCCTCTTGTTAACAACAAAATCCCAGGGACAGAAAAGAGGTT GCATTTTCATTTCCATCCCCAACATTACATTCTCTTTCTTTTTTCTTGGT CCTAGCTAAAAGTTGGTGTCTTCTCTTTACACTAGATAGATTATTTTGAC CTTACTTCTCCAGGTTTGTCCCCTGATCTAGTGAAGAAAATAAAGGTAAC AATTCCTCCCATCAAAAACCCAAGGCTATTTTCAAGAGTATTTTCTTGCT GAGCGGTAGAGTAACCACTCTCTCCTAGTCTAAATGTTTTTAAAAAGGAC AATTGGACTTGAACATTTACACACTTAATTCATTTGTATTTCAAGGAGGT ATTGATTATTTCAATGACAAAAGGAGATAATTACAATACCTTTGGAATTA CCAAGGTCTGAGAGTCAGTATTCACACACACCTTGTAGAGGGGCC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
SCARA5_chr8_27864883_27997673	27918978	A A	AGGAGGAG others(766): Show AGGAGGAGGAGAAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGGAGGAA GAGGAGAAAGAGGAGGAAAAGAAGGAGGAGGAGGAAGAGAAAAGGAGGAG GAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAGAAGAA AGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGAGAAAA GGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAGGAGGA GGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAAGGAGA AGGAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGA AGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAG GAGAAAGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGA GGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGA AAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGG AGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAGGAGGAGAAGGAGGA GGAATGGAGGAGGAGGAGAGAATAGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0244 a0001c0005t0004g0244	1	314	0.0032	773	c.916 others(790): Show c.916+2592_916+2593insCTTCTCTTCTCCTCCTCCCTTCTCTCCT CCTCCTCTATTCCCTCCTCCTCTATTCTCTCCTCCTCCTCCATTCCTCCT CCTTCTCCTCCTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTC CTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTC CTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTT CCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCTTTCTCCTCT TCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTC CTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTCCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTTTT CTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCT TCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCTCC TCCTTTTCTCTTCCTCCTCCTCCTTCTTTTCCTCCTCTTTCTCCTCTTCC TCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTTCTCCTCCTCC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SDK1_chr7_3296252_4274000	3976421	G G	GGGTCCTC others(766): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCGAGGCTACCACACAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0019 a0019	a0019c0050 a0019c0050	a0019c0050t0019 a0019c0050t0019	a0019c0050t0019g0092 a0019c0050t0019g0092	1	116	0.0086	773	c.199 others(792): Show c.1994+1904_1994+1905insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGG TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(766): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00558.hp1 HG00735.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0014 a0002c0002 a0007c0014	a0002c0002t0002 a0007c0014t0003 a0002c0002t0002 a0007c0014t0003	a0002c0002t0002g0064 a0007c0014t0003g0060 a0002c0002t0002g0064 a0007c0014t0003g0060	2	256	0.0078	773	c.165 others(790): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
TEX19_chr17_82354247_82368775	82359797	C C	CCCCTCAG others(766): Show CCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGT TTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCCCCAG TTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG GTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAG TTTCCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCCCTCAAATTTCCCTC AGTTTCCCTCAAGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCC AGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCC TCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCC CTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAGTTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTC CCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCGGGT TCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGG TTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGT TTCCCTCAGGTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGG TTCCCTCAGTTTCCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCCCTCAA ATTTCCCTCAGTTTCCCTCAGGTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	380	0.0026	773	c.-27 others(790): Show c.-272+519_-272+520insGTTCCCCCAGTTTCCCTCAAGTTTCCCT CGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCAAGTTTCCC TCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCC CCAGTTTCCCTCAGGTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCC TCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGATTCCCCCAGTTTCC CTCAAATTTCCCTCAGTTTCCCTCAAGTTCCCTCAGTTTCCCCCAGTTTC CCTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTT CCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGT TCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGT TTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAAGTTTCCCTCAG GTTCCCCCAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCA AGTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCCCAGTTTCCCT CAGGTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGATTCCC CCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(766): Show CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	370	0.0027	773	c.-13 others(784): Show c.-1313_-1312insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA CAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTTCCC others(766): Show CCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCT CCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACC TCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCCTTCC CACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCC CTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTCTCCT TCCCTCCCTCCCTCTCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTT CCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTC CCTCTCCTTCCCTCTCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTC CCTTTCCTTCCCTTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0086 a0001c0027t0002g0086	1	114	0.0088	773	c.215 others(790): Show c.2154+882_2154+883insTTCCCTTCCCTCCCTCCCTTTCCTTTCC TTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTC CCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCC CTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTC CTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTCCCCCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCC CACCCTCCCTCCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCC CTCTCTCTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCC TTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCTTCCTTCCCTCCCTC CCTTTCCTTCCCTCCCTCCCTTTCCTTCCCCTCCCTCCCTTTCCTTTCCT TCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTC CCTTTCCTTCCCTCTCCTCCCTCTCCTTCCCTCTCTTCCCTCCCTCCCTT TCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCTGTTTCCTTTCC TCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAPPC9_chr8_139722725_140462744	139756401	A A	AAGGACAG others(766): Show AAGGACAGCAGGTCGCAGGAGGAGCTAGGGTTTGGGGATGATGACAGCAT GTCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGGGG AGCCAGGGTTTGGGGATGAGGACAGCAGGTCACAGGAGGAGCCAGGGTTT GGGGATGAGGACAGCATGTCGCAGGAGGAGCCAGGGTTTGAGGATGAGGA CAGCAGGTCGCAGGAGGAGCCAGGGTTTAGGGATGAGGACAGCAGGGTGC AGGAGGAGCCAGGGTTGGGGATGAGGACAGCATGTCGCAGGAGGAGCCAG GGTTGGGGTATAAGGACAGCAGGTTGCAGGAGGAGCCAGGGTTTGGGGAT GAGGACAGCAGGGTGCAGGAGGAGCCAGGGTTGGGGATGAGGACAGCATG TCGCAGGAGGAGCCAGGGTTGGGGTATAAGGACAGCAGGTCGCAGGAGGA GCCAGGGATGGGGTATAAGGACAGCAGGTCGCAGGAGGAGCCAGGGTTTG GGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGCGTTTGGGGATGAGGAC AGCAGGTCGCAGGAGCCAGGGATGGGGTTAAGGACAGCAGGTCGCAGGAG AAGCCAGGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGAT GGGGTATAAGGACAGCATGTCGCAGGAGGAGCCAGGATTGGGGATGAGGA CAGCATGTCGCAGGAGAAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGC AGGAGGAGCCAGGGTTTGGGGATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0032 a0001c0002t0019g0032	1	98	0.0102	773	c.305 others(794): Show c.3056-24200_3056-24199insCATCCCCAAACCCTGGCTCCTCCT GCGACCTGCTGTCCTCATCCCCAAACCCTGGCTTCTCCTGCGACATGCTG TCCTCATCCCCAATCCTGGCTCCTCCTGCGACATGCTGTCCTTATACCCC ATCCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAATCCCTGGCTT CTCCTGCGACCTGCTGTCCTTAACCCCATCCCTGGCTCCTGCGACCTGCT GTCCTCATCCCCAAACGCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCC CAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTTATACCCCATCCCTGGC TCCTCCTGCGACCTGCTGTCCTTATACCCCAACCCTGGCTCCTCCTGCGA CATGCTGTCCTCATCCCCAACCCTGGCTCCTCCTGCACCCTGCTGTCCTC ATCCCCAAACCCTGGCTCCTCCTGCAACCTGCTGTCCTTATACCCCAACC CTGGCTCCTCCTGCGACATGCTGTCCTCATCCCCAACCCTGGCTCCTCCT GCACCCTGCTGTCCTCATCCCTAAACCCTGGCTCCTCCTGCGACCTGCTG TCCTCATCCTCAAACCCTGGCTCCTCCTGCGACATGCTGTCCTCATCCCC AAACCCTGGCTCCTCCTGTGACCTGCTGTCCTCATCCCCAAACCCTGGCT CCCCCTGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGAC ATGCTGTCATCATCCCCAAACCCTAGCTCCTCCTGCGACCTGCTGTCCT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870214	C C	CCACACAC others(766): Show CCACACACACCACACACCCCCCACACACCACACACCATACACACCACACC CCACACACACCACACCCCCCACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCCCACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACCCCCCACCCCCACACACCACACACCC CACACACACCACACCCCATACACAACCACCCCACACCCACACCCACCAAC ACCCCCCACCACCACACCACACACCCCACACACCACCACCCCACACACAC CACCACCCCACACCACACCACACCCCAACCACACCCCACCACACCCACCA CACCCCACACACACACACCCCCACACCCACACCACACACCCCATACACAC CACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCATACACACCACACACCCCCCACACACCACACCCCATACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCCCACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	338	0.0030	773	c.35 others(792): Show c.35+21490_*35+21491insCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCATACACACCACACCCCACACACCCCCCACCCCCA CACACCACACACCCCACACACACCACACCCCATACACAACCACCCCACAC CCACACCCACCAACACCCCCCACCACCACACCACACACCCCACACACCAC CACCCCACACACACCACCACCCCACACCACACCACACCCCAACCACACCC CACCACACCCACCACACCCCACACACACACACCCCCACACCCACACCACA CACCCCATACACACCACACACCCCCCACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCATACACACCACACACCCCCCACACAC CACACCCCATACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CACACAAACCACACACCCTACACACCCCACACACACCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(766): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGG AGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGG GAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGA GGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGGA GGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGG AAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGA AGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAG GGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGG AAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGA AATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	290	0.0035	773	c.205 others(792): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTC ACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCC CTCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCCTCACTTCTCTCC CTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCC CTCCCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTCC CCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCC TTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTC CTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADAMTS16_chr5_5135330_5325304	5305385	A A	ACACACAT others(767): Show ACACACATCCCACACCACACACACACTTCCCACACCACACACACACACAC TTCCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCA CACCACACACACACACCACACACACCACACCACAGACACACACATCCCAC ACCACACACCCCCCACACACACACATCCCACACCACACACAGACATCCCA CACCACACACACATCCCACACCACACACACACACATCCCGCACCACACAC TCACACATCCCACACCACACATACACATCCCACACCACACACACATACCA CACCACACACACACACATCCCACACCACACACACACACATCCCACACCAC ACACATCCACACCACACACACACACATCCCACACCAGACACACACATCCC ACACACACACACACATCCCACATCACACACAATCACAAACACACATCCCA CACCACACACACATCCCACACCACACACACACATCCCACACACACACACA CCCACCACACACACACACACATCCCACACCACACACACAATCCCACACCA CACACACACACAATCCCACACCACACACACACATCCCATACCACACACAC ATCCCACGCCACACACACACACACACCCCACACCACACACACATCCCACA CCACACACATCCACACCACACACACACATCCCACACCACATACACACACA CATCCCATACCACACACATCCCACACCACACACACATCCCACACCACACA CACATCCCACACCACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19077.hp1 NA18946.hp1 NA19077.hp1	a0005 a0007 a0005 a0007	a0005c0003 a0007c0012 a0005c0003 a0007c0012	a0005c0003t0021 a0007c0012t0021 a0005c0003t0021 a0007c0012t0021	a0005c0003t0021g0082 a0007c0012t0021g0248 a0005c0003t0021g0082 a0007c0012t0021g0248	2	332	0.0060	774	c.318 others(793): Show c.3187-1119_3187-1118insCACACATCCCACACCACACACACACT TCCCACACCACACACACACACACTTCCCACACCACACACACACAAATCCC ACACCAGACACACACACATCCCACACCACACACACACACCACACACACCA CACCACAGACACACACATCCCACACCACACACCCCCCACACACACACATC CCACACCACACACAGACATCCCACACCACACACACATCCCACACCACACA CACACACATCCCGCACCACACACTCACACATCCCACACCACACATACACA TCCCACACCACACACACATACCACACCACACACACACACATCCCACACCA CACACACACACATCCCACACCACACACATCCACACCACACACACACACAT CCCACACCAGACACACACATCCCACACACACACACACATCCCACATCACA CACAATCACAAACACACATCCCACACCACACACACATCCCACACCACACA CACACATCCCACACACACACACACCCACCACACACACACACACATCCCAC ACCACACACACAATCCCACACCACACACACACACAATCCCACACCACACA CACACATCCCATACCACACACACATCCCACGCCACACACACACACACACC CCACACCACACACACATCCCACACCACACACATCCACACCACACACACAC ATCCCACACCACATACACACACACATCCCATACCACACACATCCCACACC ACACACACATCCCACACCACACACACATCCCACACCACACACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56178850	A A	AAAAAAAT others(767): Show AAAAAAATCCTAAAATTTATCTAGAAGTTTAAAGTGCCAAAAAAATTTTC AAGACAATTTTACAGTAGAATGAAAGAGGATTATTGCTTTTTGAACCAAC AAGATTATACAGCCATGGTAATTAAAACAATAAATATATCAACAGAACAG AAGAAACAGTCCAGGAAATACTTAGACCTATGGAGGAACTCAATATATGA CCAAAGTGACATCACAAATCAGTAGGAAAAAAAAAGGTATTCAATAAATG GTGCTGACAAACTGGCTATACAAAAGGGATATGTTAAAATTAGATCTAAA ATTCACATCATACATAAATACTTTCCAAATGGATTAGACACCAAATATGA AAAGCAAAATTTAACAACTTACAAAATATATAGACGAATATATTTTATAA CATTAAGACTAGTAAGGCCTTACTGAAGAAGACATAAAAACTGCAAACTA TAAAGAAAACATTTTATTAAATTCAATTATATTCAAATTAAAATTTTCTG TATTACCTAAGATCCCATAAATGAAATGAAAAGGCCAGCTACAGATTGGG AGGTTATTTTAATTCATAAAACCAAGAAAAAATTATGAGCTTAACTAAAT AAATAACATCAACAATTCAATCAGAAAGAAATAAACAATGTAGGAGCAAT TTGAGAAACAGCAGACACAAGTCAATAAATGTATGAAAGATTATAAATCT CTCAAATAATTAGGGAATACATATTTCTATATTTCTCAATGTCATTGAGA AATGACATTGAGAAATGACATTGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp2 others(54): Show HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18970.hp1 NA18972.hp2 NA18983.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19072.hp1 NA19084.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0006 a0008c0013 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0003t0002 a0001c0003t0008 a0001c0004t0003 a0001c0004t0008 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0005c0006t0004 a0008c0013t0003 a0009c0015t0013	a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0092 others(54): Show a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0124 a0001c0001t0001g0184 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0260 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0273 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0008g0302 a0001c0001t0014g0298 a0001c0003t0002g0093 a0001c0003t0002g0095 a0001c0003t0008g0300 a0001c0004t0003g0306 a0001c0004t0008g0303 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0127 a0002c0002t0001g0188 a0002c0002t0001g0225 a0002c0002t0001g0230 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0281 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0007g0123 a0005c0006t0004g0264 a0008c0013t0003g0287 a0009c0015t0013g0296	57	308	0.1851	774	c.182 others(791): Show c.182-2569_182-2568insCTCAATGTCATTTCTCAATGTCATTTCT CAATGACATTGAGAAATATAGAAATATGTATTCCCTAATTATTTGAGAGA TTTATAATCTTTCATACATTTATTGACTTGTGTCTGCTGTTTCTCAAATT GCTCCTACATTGTTTATTTCTTTCTGATTGAATTGTTGATGTTATTTATT TAGTTAAGCTCATAATTTTTTCTTGGTTTTATGAATTAAAATAACCTCCC AATCTGTAGCTGGCCTTTTCATTTCATTTATGGGATCTTAGGTAATACAG AAAATTTTAATTTGAATATAATTGAATTTAATAAAATGTTTTCTTTATAG TTTGCAGTTTTTATGTCTTCTTCAGTAAGGCCTTACTAGTCTTAATGTTA TAAAATATATTCGTCTATATATTTTGTAAGTTGTTAAATTTTGCTTTTCA TATTTGGTGTCTAATCCATTTGGAAAGTATTTATGTATGATGTGAATTTT AGATCTAATTTTAACATATCCCTTTTGTATAGCCAGTTTGTCAGCACCAT TTATTGAATACCTTTTTTTTTCCTACTGATTTGTGATGTCACTTTGGTCA TATATTGAGTTCCTCCATAGGTCTAAGTATTTCCTGGACTGTTTCTTCTG TTCTGTTGATATATTTATTGTTTTAATTACCATGGCTGTATAATCTTGTT GGTTCAAAAAGCAATAATCCTCTTTCATTCTACTGTAAAATTGTCTTGAA AATTTTTTTGGCACTTTAAACTTCTAGATAAATTTTAGGATTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	3/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56178850	A A	AAAAAAAT others(767): Show AAAAAAATCCTAAAATTTATCTAGAAGTTTAAAGTGCCAAAAAAATTTTC AAGACAATTTTACAGTAGAATGAAAGAGGATTATTGCTTTTTGAACCAAC AAGATTATACAGCCATGGTAATTAAAACAATAAATATATCAACAGAACAG AAGAAACAGTCCAGGAAATACTTAGACCTATGGAGGAACTCAATATATGA CCAAAGTGACATCACAAATCAGTAGGAAAAAAAAAGGTATTCAATAAATG GTGCTGACAAACTGGCTATACAAAAGGGATATGTTAAAATTAGATCTAAA ATTCACATCATACATAAATACTTTCCAAATGGATTAGACACCAAATATGA AAAGCAAAATTTAACAACTTACAAAATATATAGACGAATATATTTTATAA CATTAAGACTAGTAAGGCCTTACTGAAGAAGACATAAAAACTGCAAACTA TAAAGAAAACATTTTATTAAATTCAATTATATTCAAATTAAAATTTTCTG TATTACCTAAGATCCCATAAATGAAATGAAAAGGCCAGCTACAGATTGGG AGGTTATTTTAATTCATAAAACCAAGAAAAAATTATGAGCTTAACTAAAT AAATAACATCAACAATTCAATCAGAAAGAAATAAACAATGTAGGAGCAAT TTGAGAGACAGCAGACACAAGTCAATAAATGTATGAAAGATTATAAATCT CTCAAATAATTAGGGAATACATATTTCTATATTTCTCAATGTCATTGAGA AATGACATTGAGAAATGACATTGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02145.hp1 others(9): Show HG01261.hp1 HG01884.hp2 HG02145.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0002 a0001c0004t0004 a0003c0008t0001	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0252 others(9): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0252 a0001c0001t0001g0269 a0001c0001t0004g0248 a0001c0001t0012g0253 a0001c0003t0001g0117 a0001c0003t0002g0280 a0001c0003t0005g0247 a0001c0004t0002g0251 a0001c0004t0004g0243 a0003c0008t0001g0249	12	308	0.0390	774	c.182 others(791): Show c.182-2569_182-2568insCTCAATGTCATTTCTCAATGTCATTTCT CAATGACATTGAGAAATATAGAAATATGTATTCCCTAATTATTTGAGAGA TTTATAATCTTTCATACATTTATTGACTTGTGTCTGCTGTCTCTCAAATT GCTCCTACATTGTTTATTTCTTTCTGATTGAATTGTTGATGTTATTTATT TAGTTAAGCTCATAATTTTTTCTTGGTTTTATGAATTAAAATAACCTCCC AATCTGTAGCTGGCCTTTTCATTTCATTTATGGGATCTTAGGTAATACAG AAAATTTTAATTTGAATATAATTGAATTTAATAAAATGTTTTCTTTATAG TTTGCAGTTTTTATGTCTTCTTCAGTAAGGCCTTACTAGTCTTAATGTTA TAAAATATATTCGTCTATATATTTTGTAAGTTGTTAAATTTTGCTTTTCA TATTTGGTGTCTAATCCATTTGGAAAGTATTTATGTATGATGTGAATTTT AGATCTAATTTTAACATATCCCTTTTGTATAGCCAGTTTGTCAGCACCAT TTATTGAATACCTTTTTTTTTCCTACTGATTTGTGATGTCACTTTGGTCA TATATTGAGTTCCTCCATAGGTCTAAGTATTTCCTGGACTGTTTCTTCTG TTCTGTTGATATATTTATTGTTTTAATTACCATGGCTGTATAATCTTGTT GGTTCAAAAAGCAATAATCCTCTTTCATTCTACTGTAAAATTGTCTTGAA AATTTTTTTGGCACTTTAAACTTCTAGATAAATTTTAGGATTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	3/11			chr5	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(767): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGA GGCAGGGGAAGGCAGGGAGGCAGGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	334	0.0030	774	c.838 others(789): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTGCCTCCTT GCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(767): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	334	0.0030	774	c.838 others(789): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(767): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	334	0.0030	774	c.838 others(789): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(767): Show TGGGGGAAAGTGAGGGGAGGTGGGGAAGGAGGGAAAGAGGGGGGAGGGGG AAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAAG GGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAG GAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGGAGGAGGAAGGGGGGAAGGGGAGGAGGAAGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGGGGAAGTGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	300	0.0033	774	c.-70 others(783): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGAAGGAGGGAAAG AGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGG GGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGGAGGAGGAAGGGGGGAAG GGGAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGA AGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGAGGAAGGGGGAAGGG GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAG GGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGAAGGGGA GTGGGAGGAGGAAGGGGAAGAAGGAGAGGAAGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGG AAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAGGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(767): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCACCATCATCACCATCACCACCA GCACCACCACCAACATCATCATCATCACCACCACCACCATCATCACCATC ACCACCAGCACCACCACCATCACCACCACCATCACCACCACCACCACCAC CATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATCACCA CCACCACCACCATCACCACCACCACCACCATCAACACCACCATCATCATC ACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0261 a0001c0001t0015g0261	1	376	0.0027	774	c.63+ others(787): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGGTG ATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGGTG ATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGTGATG GTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTG GTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGAT GTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGA TGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGA TGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGA TGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATG GTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(767): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTC CCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG CCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	252	0.0040	774	c.-29 others(785): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(767): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGG CCTACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGCCCCCTCA CCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCC TGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGG CCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGCCC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	284	0.0035	774	c.411 others(791): Show c.4112+679_4112+680insGGGCAGGAAGGTGGGCTGTGGCAGGCGA GGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCG TGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGA AGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGA GGGGGCAGGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCG TGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(767): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAGAG ACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAAATTTT TATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCA ACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTGCTGGG ATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTGTTTGT TTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCATTGA CATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGT GGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCT AGCAGGCGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	404	0.0025	774	c.113 others(789): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCA GTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGT TCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCT TGTCTGGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTG GCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCC TCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTT GTTCTTTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAG GCTGGAGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGG GAGGCCAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGG CATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATTGCTTGAATCTAGCAGGCGGAGGTTGCAGTGAGCCAAGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(767): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAGAG ACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAAATTTT TATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCA ACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTGCTGGG ATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTGTTTGT TTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCATTGA CATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGT GGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCATGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCT AGCAGGTGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(183): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0004t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(63): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0052 a0001c0001t0002g0122 a0001c0001t0004g0021 a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0002c0004t0001g0038 a0005c0008t0001g0036	186	404	0.4604	774	c.113 others(789): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCA GTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGT TCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCT TGTCTGGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTG GCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCC TCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTT GTTCTTTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAG GCTGGAGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGG GAGGCCAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGG CATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATTGCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCAAGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNOT3_chr19_54132762_54160681	54133730	T T	TCCTCTCT others(767): Show TCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCTC CACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCCACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	223	0.0045	774	c.-43 others(785): Show c.-4314_-4313insCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4031		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45502034	T T	TCAGGGGC others(767): Show TCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGA GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCCGAAGGACCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0139 a0001c0019t0003g0139	1	292	0.0034	774	c.268 others(793): Show c.2684-1970_2684-1969insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCA CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCTCAGGAGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG ACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA GGGGCTCCACAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(767): Show TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGG AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCC CTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTC ATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGA CCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	159	0.0063	774	c.811 others(791): Show c.811-1792_811-1791insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACT CATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACC CCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCC CTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(767): Show TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGG AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCC CTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTC ATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGA CCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01081.hp1 others(20): Show HG00408.hp1 HG00597.hp2 HG01081.hp1 HG01081.hp2 HG01346.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG03041.hp2 HG03491.hp2 HG03831.hp2 NA18969.hp1 NA19064.hp1 NA19081.hp1 NA19087.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0007t0002 a0002c0003t0001 a0002c0003t0004 a0002c0004t0003	a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0053 others(20): Show a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0003g0046 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0108 a0001c0002t0004g0083 a0001c0007t0002g0128 a0002c0003t0001g0144 a0002c0003t0004g0088 a0002c0004t0003g0109	23	159	0.1447	774	c.811 others(791): Show c.811-1792_811-1791insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACT CATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACC CCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCC CTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(767): Show TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGG AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCC CTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTC ATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGA CCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0027	1	159	0.0063	774	c.811 others(791): Show c.811-1792_811-1791insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACT CATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCG TAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAG TCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACC CCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTC CCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCC CTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(767): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATAGTAC CCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGT CCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCCACTCC TGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTCCAATG ATGAACGGTGCCTCAATGGTACCCCATGTCGACTCCTCCAACGATGAACG GTGTCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTC AATAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTA CCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAGTAGTACCCCGTG TCCACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCATGTCGACTC CTCCAACGATGAACGGTGTCTCAATGGTACCCCGTGTCCACTCCTGCAAT GATGAATGGTGCCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAAT GGTGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAACGGTGCCT CAATGGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATGGT ACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGT GTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACT CCTGCAATGATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0065 a0012c0011t0065	a0012c0011t0065g0101 a0012c0011t0065g0101	1	126	0.0079	774	c.134 others(795): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGA CACGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGG TACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATT GAGGCACCGTTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCAC CATTCATCATTGGAGGAGTGGACACGGGGTACTATTGAGGCACCATTCAT CATTGCAGGAGTGGACACGGGGTACCATTGAGACACCGTTCATCGTTGGA GGAGTCGACATGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGG ACACGGGGTACTACTGAGGCACCATTCATCATTGCAGGAGTGGACACGGG GTACCATTGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTAT TGAGGCACCATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGACA CCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATTGAGGCACCGTTCA TCATTGGAGGAGTGGACATGGGGTACTATTGAGACACTATTCATCATTGC AGGAGTGGACACGGGGTACCATTGAGGCACCGTTCATCATTGGAGGGGTG GACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGACACGG GGTACTATTGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(767): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGAATGG GGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGGGGGAGAGGGGGAGGGGAGGGGGAGGGGAG GGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGA GGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGGGGGGAGGGGA GGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGGAGGGTGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0039 a0002c0002t0015g0039	1	216	0.0046	774	c.923 others(793): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCACCCTCCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCC CATTCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(767): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGGGGAGGGGAGGGG GGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGA GGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAG GGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGG AGACAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0216	1	216	0.0046	774	c.923 others(793): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCACTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCC TCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DGKB_chr7_14140049_14907751	14211618	T T	TTTTACTC others(767): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	148	0.0068	774	c.212 others(795): Show c.2123-33468_2123-33467insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAA ACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAACATGA GAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA TATCACAAAACATGAGAGTAAAATCACAAAACACGAGAGTAAATATCACA AAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGA GAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA TATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAA AACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAACATGA GAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(767): Show ACATACATATATGTATGGAATATGTGTGTATACATACATATATGTATGGA ATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATACAT ATATGTGTGTATATATGTGTATACATGTGTATACACACATATGCGCGTGT ATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACAT ATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGT ATACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGT ATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACAT ATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGT ATACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGT ATATGTGTGTATATACATATGCGCGTGTATATGTGTGTATATACATATGC GCGTGTATATGTGTGTATATACATATGCGCGTGTATATGTGTGTATATAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATATATGAGTGTAT ATATGTGTGTATATACATATATATGCGTGTATATATACGTATATATGCAT GTATATATGTGTATACATACATATATGCATGTATATATGTGTATACATAC ATATATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0122 a0001c0001t0023g0122	1	148	0.0068	774	c.183 others(793): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATGTATGTATACACATATATACA TGCATATATACGTATATATACACGCATATATATGTATATACACACATATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACGCGCATATGTATATACACACATATACACGCG CATATGTATATACACACATATACACGCGCATATGTATATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACATGTATACACATATATACACACATATA TGTATGTATACACATATATACACACATATATGTATGTATACACATATATT CCATACATATATGTATGTATACACACATATTCCATACATATATGTATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(767): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCGCACCCCCACCCGCACCCCCACCCGCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCC CCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCTCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCC GCACCCGCACCCCCACCCTCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	320	0.0031	774	c.39 others(785): Show c.3972_*3973insGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGG TGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG AGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(767): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCTCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCC CCACCCCCACCTCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCAC CCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCC CCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	320	0.0031	774	c.39 others(785): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar

Search by Variant

Search

Search Results