Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(349): Show CTATATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	440	0.0023	356	c.12 others(367): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTA GATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CFAP44_chr3_113281930_113446493	113328297	T T	TCAATCTC others(349): Show TCAATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0102 a0002c0002t0003g0102	1	348	0.0029	356	c.411 others(373): Show c.4117-479_4117-478insGCCGGGCGCGGTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAGATTG	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CHRM2_chr7_136863652_137025213	136888570	T T	TAAGAAAT others(349): Show TAAGAAATGAGGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0102 a0001c0001t0020g0102	1	320	0.0031	356	c.-12 others(377): Show c.-125+19170_-125+19171insCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAATGAGGGATTGGC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CIDEA_chr18_12249361_12282595	12262175	G G	GAAAAAAA others(349): Show GAAAAAAAAAGTAAATTTTTTTTTCTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0364 a0002c0002t0001g0364	1	448	0.0022	356	c.39- others(369): Show c.39-631_39-630insTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGTAAATTTTT	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(349): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCAT CCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCC GCACCACCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTT CCGTCAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	346	0.0029	356	c.360 others(375): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACG GAAGGAGGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(349): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGG AGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGG AGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGA AGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAG GGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGAAAGGGAAGGGGAGGGAA GGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0029	1	308	0.0033	356	c.637 others(371): Show c.637+145_637+146insTCCCCTCCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTTCCTTC CCTCCCCTTCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCC TCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTT CCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGT CCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCC CCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCC CCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500547	T T	TGTGTGTT others(349): Show TGTGTGTTGGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGT GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGGTTTGGTGTGTGTG TGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTGGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTT GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT GTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0252 a0009c0016t0002g0252	1	292	0.0034	356	c.268 others(375): Show c.2683+2896_2683+2897insGTGTGTAGTGGGGTGTGGTTTGGTGT GTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGG TTTGGTGTGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTTGGGTGTGTAGTG TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TATAAATA others(349): Show TATAAATATATATAAATATATAAATATATATAAATATATATATAAATATA TATAAATATATAAATATATATGTAAATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATAAATATATATAAATACA TATGTAAATATATAAATATATATAAATATATAAATATATATAGATATATA TAAATATATACAAATATATATAGATATATATATAAATATATACAAATATA TATAGATATATATATAAATATATATAAATATATATAGATATATATATAAA TATATATAAATATATATAGATATATATAAATATATATAAATATATAGATA TATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	264	0.0038	356	c.181 others(375): Show c.1812+3023_1812+3024insTTATATATATCTATATATTTATATAT ATTTATATATATCTATATATATTTATATATATTTATATATATATCTATAT ATATTTATATATATTTATATATATATCTATATATATTTGTATATATTTAT ATATATATCTATATATATTTGTATATATTTATATATATCTATATATATTT ATATATTTATATATATTTATATATTTACATATGTATTTATATATATTTAT ATATTTATATATATTTATATATATATTTATATATATATTTATATATATTT ATATATTTACATATATATTTATATATTTATATATATTTATATATATATTT ATATATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A3_chr2_227159624_227319792	227203363	A A	ACACATAT others(349): Show ACACATATGTGTATATATGTGTGTATATGTGTATATACACATACATGTGT GTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATAC ACATACACATACATGTGTGTATATGTGTATATACACATACACATACATGT GTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATAT ACACATACACATACATGTGTGTATATGTGTATATACACATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATATATGTGTGTATATGTGTATATACACATACACATAT ATGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	344	0.0029	356	c.88- others(373): Show c.88-34605_88-34604insCACATATGTGTATATATGTGTGTATATG TGTATATACACATACATGTGTGTATATGTGTATATACACATACACATACA TGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTA TATACACATACACATACATGTGTGTATATGTGTATATACACATACACATA CATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTG TATATACACATACACATACATGTGTGTATATGTGTATATACACATACACA TACATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATG TGTATATACACATACACATATATGTGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970058	T T	TGTGGGTG others(349): Show TGTGGGTGAATGGGGTCTGTGGGTGAGTGGGGTCTGTGGGGTGAGTGGGG TCTGTGGGGTGAGTGGGTGCTGTGGGTGAGTGGGGTCTTTGGGGTGAGGT GGGGTGTGTGGATGAGTGGGGTCTGTGGTTGACTGAGGTCTGTGGGGTGA GTGGAATCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGTGTTCTGTGGCTG AGTGGGGTCTGTGGGGTAAGCGGGGGCTGTGGGGTGAGTGGGGTCTGTGG GGTGAGTGGGGGCTGTGGGGTGAGTGGGGTCTGTGGGGTAAGCGGGGGCT GTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTAAGGTGAGTGGG GTCTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0142 a0001c0142	a0001c0142t0001 a0001c0142t0001	a0001c0142t0001g0284 a0001c0142t0001g0284	1	412	0.0024	356	c.393 others(373): Show c.3937-137_3937-136insCACAGACCCCACTCACCTTACAGCCCCC ACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCCACAGA CCCCACTCACCCCACAGCCCCCACTCACCCCACAGACCCCACTCACCCCA CAGCCCCCGCTTACCCCACAGACCCCACTCAGCCACAGAACACACTCACC CACAGACCCCACTCACCCACAGATTCCACTCACCCCACAGACCTCAGTCA ACCACAGACCCCACTCATCCACACACCCCACCTCACCCCAAAGACCCCAC TCACCCACAGCACCCACTCACCCCACAGACCCCACTCACCCCACAGACCC CACTCACCCACAGACCCCATTCACCCAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL8A1_chr3_99633594_99804217	99645303	T T	TAAGATTA others(349): Show TAAGATTAAAGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0210 a0001c0001t0006g0210	1	262	0.0038	356	c.-12 others(375): Show c.-129+6652_-129+6653insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGATTAAAGCCA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70249172	T T	TCCACTGA others(349): Show TCCACTGAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	362	0.0028	356	c.187 others(375): Show c.1872+2947_1872+2948insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATCTTCAGTGG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	28/37			chr6	TogoVar
CPQ_chr8_96640242_97148501	96709423	T T	TTAGTTCA others(349): Show TTAGTTCATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	126	0.0079	356	c.-35 others(375): Show c.-35+64037_-35+64038insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAGTTCATTCCTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411825	T T	TATACGTG others(349): Show TATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTATA TATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTA TATATATACGTGTGTATATATACGTATATATATACGTGTGCATATATATA TACGTATATATATATACGTGTATGTATACGTATATATACGTATATATACA CACGTGTATGTATACGTATATATATACGTATATATACACGTATATATATA CGTATATATACGTATATATATACGTATATATACGTATATATATACGTATA TATACGTATATATATACGTATATATACGTATATATGTATATGCACGTATA TATACAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0029 a0002c0036t0029	a0002c0036t0029g0009 a0002c0036t0029g0009	1	126	0.0079	356	c.156 others(375): Show c.1562-2221_1562-2220insGTGTATATATACGTGCATATACATAT ATACGTATATATACGTATATATATACGTATATATACGTATATATATACGT ATATATACGTATATATATACGTATATATACGTATATATATACGTGTATAT ATACGTATATATATACGTATACATACACGTGTGTATATATACGTATATAT ACGTATACATACACGTATATATATATACGTATATATATATGCACACGTAT ATATATACGTATATATACACACGTATATATATACGTATATATACACACGT ATATATATACGTATATATACACACGTATATATATACGTATATATACACAC GTATATATATACGTATATATACACACGTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33777230	A A	AGCATTTG others(349): Show AGCATTTGGCAAAGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	66	0.0152	356	c.166 others(375): Show c.1664-4480_1664-4479insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAACTCTTTGCCAAATGC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(349): Show ATATATATGTGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATGTGTATATATATATATATATATATATATGTGT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT GTGTATATATATATATATATATATATATGTGTATATATATATATATATGT GTATATATATATATATATATATATGTGTATATATATATATATATATATAT ATGTGTATATATATATATATGTGTATATATATATATATATATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATATATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	334	0.0030	356	c.290 others(371): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATGTGTATATATATATA TATATATATATATGTGTATATATATATATATATATATATGTGTATATATA TATATATATATATATATGTGTATATATATATATATATATATATATGTGTA TATATATATATATATGTGTATATATATATATATATATATATGTGTATATA TATATATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATATATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15933771	A A	AGTGAGTG others(349): Show AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGG AGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAG CGGGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0066 a0001c0005t0007g0066	1	386	0.0026	356	c.198 others(371): Show c.198+439_198+440insCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCAF1_chr3_51392842_51505015	51493603	T T	TAGAAATG others(349): Show TAGAAATGAATGAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	274	0.0037	356	c.-9+ others(371): Show c.-9+3130_-9+3131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG TCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTACTTCATTCATTTCT	DCAF1	ENSG00000145041.17	transcript	ENST00000684031.1	protein_coding	2/24			chr3	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(349): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGG GGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTC GGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	367	0.0027	356	c.-42 others(367): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGG GGGGGTGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(349): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGAGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGG GTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGA AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTC GGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	367	0.0027	356	c.-42 others(367): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGG GGTGAGAGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGGTGAGGAAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGG GGGGGTGAGGGAGTCGGGGTGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(349): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1 HG02148.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0141 a0001c0001t0001g0002 a0001c0001t0001g0141	3	367	0.0082	356	c.-42 others(367): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIP2C_chr10_269201_694668	322927	T T	TTAGAACA others(349): Show TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGA GACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAG ACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02602.hp2 HG01515.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0070 a0001c0001t0003g0075	2	88	0.0227	356	c.392 others(375): Show c.3924+4078_3924+4079insGCGCCGGTCTCTCGCCGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAACACTGGTCTCTCGCTGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACC CCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCC CCGCACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC CGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCC GGAGCCCCGCACCCCCGACTGACTGTTCTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608263	C C	CCCACACA others(349): Show CCCACACACACCCCCAGCCCCCCCCACACACACCCCCCCCACACCCATCC CCCCACACCCACACACACACCCACACACCCCCCCCACCCCCCCCCACACA CACACCCCCCACACACACACACACCCCCCCCCACACACACACCCCCCCCA CACACACACCCCCCCCCACACACACACACCCCCCCCCCACACACACACCC CCCCCCACACACACACACCCCCCCACACACACACACACCCCCCCACACAC GCCCCCCCCCACACACGCCCCCCCCCACACACACGCCCCCCCCACACACA CGCCCCCCCCACACACACACACGCCCCCCCCACACACACACACGCCCCCC CCACACA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	356	c.85+ others(373): Show c.85+81230_85+81231insTGTGTGGGGGGGGCGTGTGTGTGTGTGG GGGGGGCGTGTGTGTGTGTGGGGGGGGCGTGTGTGTGGGGGGGGCGTGTG TGTGGGGGGGGGCGTGTGTGGGGGGGGGCGTGTGTGGGGGGGTGTGTGTG TGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGG GTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGGG GGGGGGTGTGTGTGTGTGTGGGGGGTGTGTGTGTGGGGGGGGGTGGGGGG GGTGTGTGGGTGTGTGTGTGGGTGTGGGGGGATGGGTGTGGGGGGGGTGT GTGTGGGGGGGGCTGGGGGTGTGTGTGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1350794	C C	CTGAGTGT others(349): Show CTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACTGTGTGTGGAAAGGC CGTGCGGGTCCTGACTGTGTGTGGAAAGGACGTGCGGGTCCTGACTGTGT GTGGAAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTC CTGACTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCCGTG CGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGG AAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGA GTGTGCGTGGAAAGGCCGTGCGGGTCCTGACAGTGTGTGGAAAGGCCGCG TGGGTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0023 a0001c0002t0001 a0001c0002t0023	a0001c0002t0001g0019 a0001c0002t0023g0005 a0001c0002t0001g0019 a0001c0002t0023g0005	2	40	0.0500	356	c.106 others(375): Show c.106+91931_106+91932insGTGCGGGTCCTGACTGTGTGTGGAAA GGCCGTGCGGGTCCTGACTGTGTGTGGAAAGGACGTGCGGGTCCTGACTG TGTGTGGAAAGGACGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGG GTCCTGACTGTGGAAAGGCCGTGCGGGTCCTGACTGTGCGTGGAAAGGCC GTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACTGTGCG TGGAAAGGCCGTGCGGGTCCTGAGTGTGCGTGGAAAGGCCGTGCGGGTCC TGAGTGTGCGTGGAAAGGCCGTGCGGGTCCTGACAGTGTGTGGAAAGGCC GCGTGGGTCTTGAGTGTGCGTGGAAAGGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(349): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATACATA TATACACATACATATATATATACATATATATATACATATATATATACGTA TATATATATACGTGTATATATATATACGTATATATATATACGTGTGTATA TATATACACATATATATATACACGTATATATATACACATATATATATATA CACATATATATATATACACATATATATATATACACACATATATATATATA CACATATATATATATACACATATATATATATACACACATATATATATATA TATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	266	0.0038	356	c.730 others(375): Show c.7305+1447_7305+1448insATATATATATATATATATATGTGTGT ATATATATATATGTGTATATATATATATGTGTATATATATATATGTGTGT ATATATATATATGTGTATATATATATATGTGTATATATATATATGTGTAT ATATATACGTGTATATATATATGTGTATATATATACACACGTATATATAT ATACGTATATATATATACACGTATATATATATACGTATATATATATGTAT ATATATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(349): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATACATA TATACACATACATATATATATACATATATATATACATATATATATACGTA TATATATATACGTGTATATATATATATACATATATATATATACGTGTGTA TATATATACACATATATATATACACGTATATATATACACATATATATATA TACACATATATATATATACACATATATATATATACACACATATATATATA TACACATATATATATATACACATATATATATATATACACATATATATATA TATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	266	0.0038	356	c.730 others(375): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTGTAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATACGTGTATATATATATGTGTATATATATACACACGTATATATATAT ATGTATATATATATATACACGTATATATATATACGTATATATATATGTAT ATATATATGTATATATATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATAT GTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNM2_chr19_10713079_10836903	10758419	C C	CTCCCTCC others(349): Show CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	278	0.0036	356	c.162 others(373): Show c.162-1308_162-1307insTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(349): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	212	0.0047	356	c.162 others(369): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP8_chr15_65437467_65522689	65494012	C C	CCTAACAA others(349): Show CCTAACAACCCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGA TTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAA GTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCG CAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTT AACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACC GCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGC ACAGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0013 a0001c0003t0015g0013	1	336	0.0030	356	c.716 others(373): Show c.716-3714_716-3713insACCCTGTGCTCTCTGAAACATGTGCTGT GTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTA AACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTA ATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCT GCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCC CTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACC CAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAACATAGGGTTGTTAG	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(349): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATACTATATATATACTATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATA GTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATATAGTGTATATATATAGTATATATATATAGTGTATATAT ATAGTATATATATAGTATATATATAGTATATATAGTATATATGTATATAT ATATAGT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	316	0.0032	356	c.355 others(375): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATACTAT ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATATAGTGTATATATATA GTATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGT ATATATAGTATATATGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EPHA6_chr3_96809594_97766532	97146864	T T	TAAAAAGA others(349): Show TAAAAAGAAATGAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03486.hp2 HG01256.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0020 a0001c0002t0001 a0001c0002t0020	a0001c0002t0001g0022 a0001c0002t0020g0042 a0001c0002t0001g0022 a0001c0002t0020g0042	2	82	0.0244	356	c.111 others(377): Show c.1115-79384_1115-79383insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAATGAAAAG	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM240C_chr2_241888988_241905464	241896810	T T	TGTTGGGG others(349): Show TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTG AAGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTGTGTGTGTTGGGGTG TGGGTGAAGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGTT GGGGTGTGGGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTG GGTGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGG GGTGTGTGTGTTGGGGTGTGGGTGAAGGGGTGTGGGTGTGGGGGTGTGGG TGTTGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	37	0.0270	356	c.161 others(371): Show c.161+375_161+376insCCCAACACCCACACCCCCACACCCACACCC CTTCACCCACACCCCAACACACACACCCCTTCACCCACACCCCAACACCC ACACCCCCACACCCACACCCCAACACCCACACCCCAACACCCACACCCCC ACACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACCCAC ACCCCCACACCCACACCCCTTCACCCACACCCCAACACACACACCCCTTC ACCCACACCCCAACACCCACACCCCTTCACCCACACCCCAACACCCACAC CCCCACACCCACACCCCCACACCCACACCCCAACACCCACACCCCTTCAC CCACACCCCCACACCCACACCCCAAC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(349): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCTTCCCTGCTCCGCTCCC CCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCT CCCCGCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTC CCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTC TGCCCCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCC CCCTCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG02897.hp1 HG01109.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0060 a0001c0002t0001 a0001c0002t0060	a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0060g0071 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0060g0071	3	218	0.0138	356	c.-23 others(375): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCTTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCT CCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCC TGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCC TCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCG CCCCCCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTC TGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCCTC CCCCTCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGF1_chr5_142587178_142691090	142615032	A A	ACAAACTT others(349): Show ACAAACTTATATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	340	0.0029	356	c.-34 others(371): Show c.-34-872_-34-871insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGTAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAATATAAGTTTG	FGF1	ENSG00000113578.18	transcript	ENST00000337706.7	protein_coding	1/3			chr5	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(349): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18966.hp2 NA19083.hp2 HG02683.hp2 NA18966.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0248 a0001c0001t0004g0274 a0001c0001t0004g0241 a0001c0001t0004g0248 a0001c0001t0004g0274	3	420	0.0071	356	c.702 others(373): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAAT AGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAG ATAATAGATTATCTATCTAAATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435879	G G	GGAAGGGA others(349): Show GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAGGGGACGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0030 a0001c0001t0075g0030	1	96	0.0104	356	c.-16 others(377): Show c.-168+57546_-168+57547insTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCGTCCCCTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FURIN_chr15_90863588_90888457	90871538	G G	GCGGCGGG others(349): Show GCGGCGGGCGGACGAGCCGGAGCCGGCGGTGGTGGCGGCGGCGGCGGCCG GGGAAGCGCGGAGGTGGCGCCGCGAGGGGGAGGGGCGCGGCGGCGGAGGA GGAGGAGCCCGGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC TGACAGCGGCCCGAGTAAACAAGCCGCGCCGCCGCGGCCCGGCCGCTGCC CCCGCCCGCGCCGGAGCTGGAGCCCAGGCCGAGCCCTGCCCTGGTCGCCG GCCGGGCCGAGGCCGCGCCGCCGCGCCTCCCCGCCTCCGCGCCGTGACGC TGCCGCCGGGCGCGGGGACCGCGCCGAGCCCAGGCCCCCGCCGCCGGGCT CTCCGCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	360	0.0028	356	c.-16 others(375): Show c.-160+2831_-160+2832insGGGCGGACGAGCCGGAGCCGGCGGTG GTGGCGGCGGCGGCGGCCGGGGAAGCGCGGAGGTGGCGCCGCGAGGGGGA GGGGCGCGGCGGCGGAGGAGGAGGAGCCCGGGCCGCTGCCGCCGCCGCCG CCGCCGCCGCCGCCGCCGCTGACAGCGGCCCGAGTAAACAAGCCGCGCCG CCGCGGCCCGGCCGCTGCCCCCGCCCGCGCCGGAGCTGGAGCCCAGGCCG AGCCCTGCCCTGGTCGCCGGCCGGGCCGAGGCCGCGCCGCCGCGCCTCCC CGCCTCCGCGCCGTGACGCTGCCGCCGGGCGCGGGGACCGCGCCGAGCCC AGGCCCCCGCCGCCGGGCTCTCCGCTCGGC	FURIN	ENSG00000140564.13	transcript	ENST00000268171.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
FURIN_chr15_90863588_90888457	90871538	G G	GCGGCGGG others(349): Show GCGGCGGGCGGACGAGCCGGAGCCGGCGGTGGTGGCGGCGGTGGCGGCGG CGGCGGCCGGGGAAGCGCGGAGGTGGCGCCGCGAGGGGGAGGGGCGCGGC GGCGGAGGAGGAGGAGCCCGGGCCGCTGCCGCCGCCGCCGCCGCCGCCGC TGACAGCGGCCCGAGTAAACAAGCCGCGCCGCCGCGGCCCGGCCGCTGCC CCCGCCCGCGCCGGAGCTGGAGCCCAGGCCGAGCCCTGCCCTGGTCGCCG GCCGGGCCGAGGCCGCGCCGCCGCGCCTCCCCGCCTCCGCGCCGTGACGC TGCCGCCGGGCGCGGGGACCGCGCCGAGCCCAGGCCCCCGCCGCCGGGCT CTCCGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	360	0.0028	356	c.-16 others(375): Show c.-160+2831_-160+2832insGGGCGGACGAGCCGGAGCCGGCGGTG GTGGCGGCGGTGGCGGCGGCGGCGGCCGGGGAAGCGCGGAGGTGGCGCCG CGAGGGGGAGGGGCGCGGCGGCGGAGGAGGAGGAGCCCGGGCCGCTGCCG CCGCCGCCGCCGCCGCCGCTGACAGCGGCCCGAGTAAACAAGCCGCGCCG CCGCGGCCCGGCCGCTGCCCCCGCCCGCGCCGGAGCTGGAGCCCAGGCCG AGCCCTGCCCTGGTCGCCGGCCGGGCCGAGGCCGCGCCGCCGCGCCTCCC CGCCTCCGCGCCGTGACGCTGCCGCCGGGCGCGGGGACCGCGCCGAGCCC AGGCCCCCGCCGCCGGGCTCTCCGCTCGGC	FURIN	ENSG00000140564.13	transcript	ENST00000268171.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT17_chr7_71127144_71718599	71680692	T T	TCCCTCCC others(349): Show TCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCTTCCCTCCCTCTCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCTCTTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCT TCCTCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	76	0.0132	356	c.150 others(375): Show c.1500+3386_1500+3387insCCCTCCCTCTCTCCCTTCCTCCCTCC CTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCTTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GALNT9_chr12_132191372_132334589	132241666	C C	CCTTCCCA others(349): Show CCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CCAGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAAC ACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACA ACACACA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	183	0.0055	356	c.107 others(375): Show c.1077+6243_1077+6244insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTT GTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTG TGTAATGGGGATAGGGAGGTCCCTGGGAAG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GET4_chr7_871554_901436	890220	T T	TCTGGGAG others(349): Show TCTGGGAGTGGAGGGAGCGTGAGTAGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAG TGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0127 a0001c0002t0021g0127	1	384	0.0026	356	c.467 others(371): Show c.467-690_467-689insTGAGTAGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG AGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGA GTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGCCTGGGAGTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890220	T T	TCTGGGAG others(349): Show TCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTC TGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAG TGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAG GACGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp2 HG04184.hp2 HG02896.hp1 HG03579.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0106 a0001c0002t0002g0131 a0001c0002t0002g0092 a0001c0002t0002g0106 a0001c0002t0002g0131	3	384	0.0078	356	c.467 others(371): Show c.467-690_467-689insTGAGTGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCG AGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGA GTGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGCCTGGGAGTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(349): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA AGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAG GGAGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	188	0.0053	356	c.229 others(375): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCT TCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(349): Show GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGACGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGAAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGA AGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAG GGAGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0049 a0001c0001t0047g0049	1	188	0.0053	356	c.229 others(375): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCGTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(349): Show TATACATATATATGTATATATATGTATGTATACATGTATACATACATATA TTTATATGTATGTATACATGTATATATACATATATTTATATGTATGTATA CATGTATACATACATATAAATATATGTATGTATACATACGTATATATACA TGTATAATACATATATATTTATATGTATATATACATACGTATATATACAT GTATCATACATATAAATATATATTTATATGTATGATACATGTATACATAC GTATAAATATATATGTATGTATACATGTATCATACATATAAATATATACA TATAAATTTATATGTATATATACATGTATACATACATATATATTTATGTA TATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	348	0.0029	356	c.706 others(373): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATACATACATATATTTATATGTATGTATACATGTATATATACA TATATTTATATGTATGTATACATGTATACATACATATAAATATATGTATG TATACATACGTATATATACATGTATAATACATATATATTTATATGTATAT ATACATACGTATATATACATGTATCATACATATAAATATATATTTATATG TATGATACATGTATACATACGTATAAATATATATGTATGTATACATGTAT CATACATATAAATATATACATATAAATTTATATGTATATATACATGTATA CATACATATATATTTATGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(349): Show TATACATATATATGTATATATATGTATGTATACATGTATATATACATATA AATATATGTATATATACATGTATATATACATATAAATATATGTATGTATA CATGTATATATACATATAAATATATGTATGTATACATACGTATATATACA TGTATAATACATATATATTTATATGTATATATACATACGTATATATACAT GTATCATACATATAAATATATATTTATATGTATGATACATGTATACATAC GTATAAATATATATGTATGTATACATGTATCATACATATAAATATATACA TATAAATTTATATGTATATATACATGTATACATACATATATATTTATGTA TATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG03041.hp1 HG02615.hp1 HG02622.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0298	3	348	0.0086	356	c.706 others(373): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATATATACATATAAATATATGTATATATACATGTATATATACA TATAAATATATGTATGTATACATGTATATATACATATAAATATATGTATG TATACATACGTATATATACATGTATAATACATATATATTTATATGTATAT ATACATACGTATATATACATGTATCATACATATAAATATATATTTATATG TATGATACATGTATACATACGTATAAATATATATGTATGTATACATGTAT CATACATATAAATATATACATATAAATTTATATGTATATATACATGTATA CATACATATATATTTATGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(349): Show TATACATATATATGTATATATATGTATGTATACATGTATATATACATATA AATATATGTATGTATACATGTATACATACATATAAATATATGTATGTATA CATGTATATATACATATAAATATATGTATGTATACATACGTATATATACA TGTATAATACATATATATTTATATGTATATATACATACGTATATATACAT GTATCATACATATAAATATATATTTATATGTATGATACATGTATACATAC GTATAAATATATATGTATGTATACATGTATCATACATATAAATATATACA TATAAATTTATATGTATATATACATGTATACATACATATATATTTATGTA TATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01891.hp1 others(2): Show HG00639.hp2 HG01243.hp2 HG01891.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0211 a0001c0001t0010g0212 a0001c0001t0010g0213 others(2): Show a0001c0001t0010g0211 a0001c0001t0010g0212 a0001c0001t0010g0213 a0001c0001t0010g0215 a0001c0001t0010g0281	5	348	0.0144	356	c.706 others(373): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATATATACATATAAATATATGTATGTATACATGTATACATACA TATAAATATATGTATGTATACATGTATATATACATATAAATATATGTATG TATACATACGTATATATACATGTATAATACATATATATTTATATGTATAT ATACATACGTATATATACATGTATCATACATATAAATATATATTTATATG TATGATACATGTATACATACGTATAAATATATATGTATGTATACATGTAT CATACATATAAATATATACATATAAATTTATATGTATATATACATGTATA CATACATATATATTTATGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRIP1_chr12_66342431_66684076	66617788	C C	CAAAAGAA others(349): Show CAAAAGAAATGCATATTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	224	0.0045	356	c.56- others(373): Show c.56-20862_56-20861insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTAATATGCATTTCTTTT	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	1/24			chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346055	C C	CCCAGGAG others(349): Show CCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGC TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGA TCTCTGTGGCCGAGAGCAGACCCAGGAGCACCTCTGTGGCTGAGCGGATC CGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACC CAGGAGGATCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTG AGCGGAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	288	0.0035	356	c.466 others(373): Show c.466-1097_466-1096insATCCGCTCAGCCACAGAGGTCCTCCTGG GTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAGCCACAGAG GTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGCTCTC TGCCACAGAGGTCCTCCCAGGTCCGCTCTCAGCCACAGAGGTCCTCCCGG GTCTGCTCTCTGCCACAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGT GCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCTCTCAG CCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGT CTGCTCTTGTCCACAGAGGTCCTCCTGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346907	T T	TGAGAACA others(349): Show TGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGA CCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGA CCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTG AGAACAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCAGACCCAGGAGCACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAG AACAGACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTC TGAAGCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0156 a0001c0001t0001g0165	2	288	0.0069	356	c.466 others(373): Show c.466-1949_466-1948insGGCTTCAGAGGTCCTCCCGGATCTGTTC TCGGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAG GTGCTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTC AGCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAG ATCCGCTCAGCCACAGAGGTCCTCCCGGGTCCGCTCTCAGCCACAGAGGT CCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGG CCACAGAGGTCCTCCCGGGTCTGTTCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar

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