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
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(391): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0275 a0001c0003t0002g0280 a0001c0003t0002g0275 a0001c0003t0002g0280	2	315	0.0063	398	c.489 others(415): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(391): Show ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0265 a0001c0003t0002g0265	1	314	0.0032	398	c.489 others(415): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC TATATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(391): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18954.hp1 HG01175.hp2 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0001c0003 a0002c0008	a0001c0003t0002 a0002c0008t0002 a0001c0003t0002 a0002c0008t0002	a0001c0003t0002g0279 a0002c0008t0002g0296 a0001c0003t0002g0279 a0002c0008t0002g0296	2	315	0.0063	398	c.489 others(415): Show c.489+2870_489+2871insATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAATA TATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATAAAATATA TAGTTATGTAACTATATAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808198	A A	ATATAAAA others(391): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	376	0.0027	398	c.489 others(415): Show c.489+2584_489+2585insATAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTA ACTATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATATAA others(391): Show CTATATAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACT ATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	327	0.0031	398	c.489 others(415): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
ODAD3_chr19_11415605_11440121	11425057	A A	ATATATGT others(391): Show ATATATGTACATATGTGTATATATACCTATGTGTATATATGTACATATGT GTATATATACCTATGTGTATATATGTACATATGTGTATATATACCTATGT GTATATATGTACATGTGTATATATACCTATGTGTATATATGTACATATGT GTATATATACCTATGTGTATATATGTACATATGTGTATATATACCTATGT GTATATATGTACATATGTGTATATATACCTATGTGTATATATGTACATAT GTGTATATGTACCTATGTGTATATATGTACATATGTGTATATATACCTAT GTGTATATATGTACATATGTGTATATGTACCTATGTGTATATATGTACAT ATGTGTATATGTACCTATGTGTATATATGTACATATGTGTATATGTACC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0033	1	393	0.0025	398	c.964 others(415): Show c.964-1029_964-1028insGGTACATATACACATATGTACATATATA CACATAGGTACATATACACATATGTACATATATACACATAGGTACATATA CACATATGTACATATATACACATAGGTATATATACACATATGTACATATA TACACATAGGTACATATACACATATGTACATATATACACATAGGTATATA TACACATATGTACATATATACACATAGGTATATATACACATATGTACATA TATACACATAGGTATATATACACATATGTACATATATACACATAGGTATA TATACACATGTACATATATACACATAGGTATATATACACATATGTACATA TATACACATAGGTATATATACACATATGTACATATATACACATAGGTATA TATACACATATGTACATATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3L2_chr19_458361_479983	479593	C C	CGGGGTTT others(391): Show CGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGA TCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACC GTGCCCGGCTAATTTGTATTTTTAGTAGAGATGGGGGTTTCTCCATGTTG GCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAATTTTGT ATTTTTAGTAGAGACGGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAT CTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0141 a0001c0003t0002g0141	1	157	0.0064	398	c.-48 others(409): Show c.-4847_-4846insCATCTCTACTAAAAATACAAAATTAGCCGGGCAC GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGA TCACAAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGAGAAACCCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCACGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGAT CGAGACCAGCCTGGCCAACATGGAGAAACCCCCATCTCTACTAAAAATAC AAATTAGCCGGGCACGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAG GCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAA CATGGAGAAACCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4611		chr19	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(391): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGG GGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGAGG GGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGGGAGGGGAGGGGGAG GGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGG GGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGG AGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	62	0.0161	398	c.155 others(415): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCTTCCCTTT CCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(391): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0022g0146 a0001c0001t0001g0001 a0001c0001t0022g0146	2	41	0.0488	398	c.196 others(419): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATACATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(391): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGT GCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	40	0.0250	398	c.196 others(419): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(391): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	177	0.0056	398	c.471 others(413): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTG CCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(391): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTT GGATAAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGT TGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGG TTGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATA GTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTG GATAAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTT GGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGT TGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0010 a0006c0013t0010	a0006c0013t0010g0045 a0006c0013t0010g0045	1	5	0.2000	398	c.161 others(415): Show c.1614+379_1614+380insATGGGTGGGTGGGCCATGGTAGTTGGAT GGTTGGATAAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGA TGGTTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGG ATGGTTGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTG GATAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATG GTTGGATAAATTGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGAT GGTTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGA TGGTTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGG ATGGTTGGATAAATGGATGG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDXK_chr21_43714129_43767299	43741392	C C	CGCGGGGG others(391): Show CGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0029 a0001c0002t0027g0029	1	324	0.0031	398	c.143 others(413): Show c.143-267_143-266insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTGGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP3_chr11_389209_409908	401913	C C	CCCCGACC others(391): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA20905.hp2 HG03017.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0133 a0001c0002t0001g0138	2	175	0.0114	398	c.173 others(417): Show c.1738-1163_1738-1162insCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCC CGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCGGGACCCCGCTCACACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401913	C C	CCCCGACC others(391): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02300.hp1 others(4): Show HG00639.hp1 HG01891.hp1 HG02300.hp1 HG02559.hp2 HG02886.hp1 HG04199.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0016 others(1): Show a0001c0002 a0001c0003 a0001c0016 a0002c0013	a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 a0002c0013t0001	a0001c0002t0001g0100 a0001c0002t0001g0159 a0001c0003t0001g0105 others(4): Show a0001c0002t0001g0100 a0001c0002t0001g0159 a0001c0003t0001g0105 a0001c0003t0001g0154 a0001c0016t0001g0201 a0002c0013t0001g0108 a0002c0013t0001g0109	7	180	0.0389	398	c.173 others(417): Show c.1738-1163_1738-1162insCGACCCGCTCACCCCCGACCCGCTCA CCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGACCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCC CGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCC CCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCT CACCCGGGACCCCGCTCACACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(391): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGAAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGGCGGGCAGGGGAGCA GCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGG GAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGGAGGGAGGGGGAGGGGAG GAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	114	0.0175	398	c.-27 others(407): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTCC TCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCCTCC CCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTC CCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCC CCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCTCTC CCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGC TGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(391): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTG CCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTAT TATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTG ATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCAC CGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	20	0.0500	398	c.479 others(417): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT AAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATC TCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCA GCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGT CTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTG GGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATT CTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(391): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTG CCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTTGTA TTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACTGTGTTGCCAGGCTGGTCTCAAACTCCTGGCCTAGTG ATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCAC CGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	20	0.0500	398	c.479 others(417): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT AAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATC TCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTC AGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGCCAGGCTGGT CTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTG GGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATT CTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(391): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCTG CCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTAGCTTGTAT TATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTAGTG ATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCGTGAGCCAC CGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCACATATTAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	20	0.0500	398	c.479 others(417): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT AAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATC TCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCA GCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGT CTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTG GGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATATTTATATT CTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXT1_chr6_36385551_36447854	36429253	G G	GAGAGTGA others(391): Show GAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAGAAAAAAAAGAAAAAGAA AAAATTTATGCATATATATGTATACATATGCCAGAAAAACACTATGCTCT TTTATGTAACCGTTCGTATAACTGGATAATTACCAGGCCGGACGCAGTGG CTCACCCTTGTAAACCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCAAT TGAGGTCAGGAGTCCTAGACCAGCCTAGCCAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAACTAGCTGGGCGTGGTGGTGCATGCCTGTAATC TCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAGCCTGAGAGGCA GAGGTTGCAGTGAGCCAAGACGGCACCACTGCACTCCAATCTGGGCAAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	82	0.0122	398	c.-9- others(413): Show c.-9-3163_-9-3162insGTTGCCCAGATTGGAGTGCAGTGGTGCCGT CTTGGCTCACTGCAACCTCTGCCTCTCAGGCTCAAGCTATTCTCCTGCCT CAGCCTCCTGAGTAGCTGAGATTACAGGCATGCACCACCACGCCCAGCTA GTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGG TCTAGGACTCCTGACCTCAATTGATCCACCCGCCTCTGCCTCCCAAAGTG CTGGGTTTACAAGGGTGAGCCACTGCGTCCGGCCTGGTAATTATCCAGTT ATACGAACGGTTACATAAAAGAGCATAGTGTTTTTCTGGCATATGTATAC ATATATATGCATAAATTTTTTCTTTTTCTTTTTTTTCTTTTTTTTTTTTT GAGACAGGGTCTCACTCT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	2/4			chr6	TogoVar
RUNDC3B_chr7_87623398_87837296	87626691	T T	TATACATG others(391): Show TATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATA TACATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATA CATGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACA TGTCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATG TCATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTC ATATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCAT ATGTGTGTCATATACATGTCATATGTGTGTCATATACATGTCATATGTGT GTCATATACATGTCATATGTGTGTCATATATATGTCATATATGTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0011 a0001c0001t0010g0011	1	198	0.0051	398	c.-21 others(409): Show c.-2133_-2132insATACATGTCATATATGTGTGTCATATACATGTCA TATATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATA TATGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATA TGTGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATG TGTGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTG TGTCATATACATGTCATATATGTGTGTCATATACATGTCATATATGTGTG TCATATACATGTCATATGTGTGTCATATACATGTCATATGTGTGTCATAT ACATGTCATATGTGTGTCATATACATGTCATATGTGTGTCATATATATGT CATATATGTGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1706		chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(391): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATAATATATAATATATATTATATGTTATATATAATATATAT TATATGTTATATATAATATATATTTATATGTTATATATAATATATATTAT ATATTATATATAATATATAATATATATTACATATAATATATAATATATAA TATATATTATATATTATATATTATATATTATATATAATATATTTATATAT TATATATAATATATAAATATATTATATATAATATATAATATATAAATATA TATTATATATTATATATAATATATAAATATATATTATATATATTTAATAT ATATTTTATATATAAATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0002	a0001c0001t0004g0071 a0001c0001t0007g0007 a0001c0003t0002g0074 a0001c0001t0004g0071 a0001c0001t0007g0007 a0001c0003t0002g0074	3	31	0.0968	398	c.193 others(417): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTTATATATTATATATTATATAT AATATATTTATATATTATATATAATATATAAATATATTATATATAATATA TAATATATAATATATAATATATATTATATATTATATATTATATGTAATAT ATATTATATATTATATATAATATATAATATATATTATATATAACATATAA ATATATATTATATATAACATATAATATATATTATATATAACATATAATAT ATATTATATATTATATATAATATATTATATATAATATATTATATATAATA TATATTATATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SART1_chr11_65956734_65985137	65971073	A A	ATGGTGGG others(391): Show ATGGTGGGATTCATGAGCTGAGGAGGCGGGTGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGGTGCTGAGGAGGGGGGTGGTGGGAT TCAGGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0167	1	378	0.0026	398	c.157 others(417): Show c.1572+3277_1572+3278insCGGGTGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGG AGGGGGATGGTGGGATTCATGAGGTGCTGAGGAGGGGGGTGGTGGGATTC AGGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGGTGG TGGGATTCATGAGCTGAGGAGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCTR_chr2_119434843_119529483	119444880	C C	CACATATA others(391): Show CACATATATACGTACGAATATATATACACATATATACGTACGAATATATA TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATTCGTACGAATATATATACACATATATTCGTACGAA TATATATACACATATATTCGTACGAATATATATACATATATTCGTACGAA TATACACATATATTCGTACGAATATATATACATATATTCGTACGAATATA TATACATATATTCGTACGAATATATATACATATATTCGTACGAATATATA TACATATATTCGTACGAATATATATACATATATTCGTACGAATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0019 a0001c0002t0004g0019	1	261	0.0038	398	c.114 others(417): Show c.1140+1878_1140+1879insATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGTATATATATTCGTACGAATATATGTATAT ATATTCGTACGAATATATGTATATATATTCGTACGAATATATGTATATAT ATTCGTACGAATATATGTGTATATTCGTACGAATATATGTATATATATTC GTACGAATATATGTGTATATATATTCGTACGAATATATGTGTATATATAT TCGTACGAATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SHC2_chr19_411589_466033	431316	C C	CGGGCAGA others(391): Show CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCAGGCAGATAGATGGCACTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0010 a0001c0006t0006g0010	1	209	0.0048	398	c.111 others(415): Show c.1111-570_1111-569insCGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCT CTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCC TCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGTGCCATCTATCT GCCTGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC ATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGAT GAAGCGCCATCTATCTGCCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432449	A A	ATAGAGGA others(391): Show ATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTG AGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAG ATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGG GCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAGGAGG CCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0016 a0001c0006t0001g0013 a0001c0006t0001g0016	2	145	0.0138	398	c.111 others(417): Show c.1111-1703_1111-1702insACTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACTATCTC ACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGA TCTCACTCACGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTC ACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTC TATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCT CCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTG CCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCA TCTATCTGCCCCGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	401012	A A	ACCCGCAC others(391): Show ACCCGCACCCCACGCACAACCCCCCGGCCCCCGCCTCACACCCCGGCCCC CGCTCACACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCT CACACCCCGCCCCGCTCACACCCCGGCCCCGCTCACACCCGGCCCCCGCT CACACCCGCCCCGCTCACACCCCGGCCCCCGCCTCACACCCGCCCCGCTC ACCCCCGGCCCCCGCTCACCCCCGCCCGCTCACACCCCGCCCCTCACACA CCGCCCCCGCTCACACCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCAGCTGACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	227	0.0044	398	c.48 others(409): Show c.4883_*4884insGGGTCAGCTGGGGTGAGCGGGGCGGGTGTGAGCG GGCCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG TGTGAGCGGGGGCGGTGTGTGAGGGGCGGGGTGTGAGCGGGCGGGGGTGA GCGGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGGCGGGGGCCGGGGTGTG AGCGGGGCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGGTGTGA GCGGGGCGGGGTGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGG GGCGGGGTGTGAGCGGGGGCCGGGGTGTGAGGCGGGGGCCGGGGGGTTGT GCGTGGGGTGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4703		chr11	TogoVar
SIGIRR_chr11_400716_419999	401900	C C	CGACCCGC others(391): Show CGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCC CCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCT CACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCC CGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGC TCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCAC CCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	158	0.0063	398	c.39 others(409): Show c.3995_*3996insCCGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGG TGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTG AGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGG GTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCG GGGGTGAGCGGGTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3815		chr11	TogoVar
SIGIRR_chr11_400716_419999	401913	C C	CCCCGACC others(391): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG04228.hp1 HG03017.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0075 a0001c0001t0001g0012 a0001c0001t0001g0075	2	201	0.0100	398	c.39 others(409): Show c.3982_*3983insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGT GAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTC GGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGG GTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3802		chr11	TogoVar
SIGIRR_chr11_400716_419999	401913	C C	CCCCGACC others(391): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01891.hp1 others(4): Show HG01346.hp1 HG01346.hp2 HG01891.hp1 HG02300.hp1 HG02886.hp2 HG03130.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0122 a0001c0001t0001g0195	7	206	0.0340	398	c.39 others(409): Show c.3982_*3983insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGT GAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGG GTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3802		chr11	TogoVar
SIGIRR_chr11_400716_419999	401975	C C	CGCTCACC others(391): Show CGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCT CACACCCGACCCGCTCACACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCTCACCCCAGCCCGCTCACCCCCGACCCGCTCACCCCG GACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCGCTCACACACCCG ACCCGCTCACCCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCT CACACCCGACCCGCTCACACCCCGGCCCCCGCTCACCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCTCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	203	0.0049	398	c.39 others(409): Show c.3920_*3921insTTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGGCCGGGGTGTG AGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCG GGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTC GGGGGGTGAGCGGGTCGGGTGTGTGAGCGGGCCGGGTGTGAGCGGGGTCC GGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGCTGGGGT GAGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGTG AGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCG GGTCGGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3740		chr11	TogoVar
SLCO3A1_chr15_91848708_92170903	92143358	C C	CATATATA others(391): Show CATATATATATTATATAATATATATATAAAATATATATATATTATATAAT ATATATATAAAATATATATATATTATATATAAAATATATATATTATATAA TATATATATAAAATATATATATTATATAATATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATAATATATGTAATATTATATAATATATATATTATATA TATTATATATTATATATATTATATATATTATATATAATATATATTATATA TTATATATATTATATATATTATATATAATATATTATATATAATATATATA ATATATATAATATATATATTATATATAATATATATAATATATATAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	25	0.0400	398	c.151 others(417): Show c.1513-3601_1513-3600insTAAAATATATATATATTATATAATAT ATATATAAAATATATATATATTATATATAAAATATATATATTATATAATA TATATATAAAATATATATATTATATAATATATATATAAAATATATATATT ATATAATATATATATAAAATATATATATTATATAATATATATATAAAATA TATATATTATATAATATATGTAATATTATATAATATATATATTATATATA TTATATATTATATATATTATATATATTATATATAATATATATTATATATT ATATATATTATATATATTATATATAATATATTATATATAATATATATAAT ATATATAATATATATATTATATATAATATATATAATATATATAAAAAATA TATATATTATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(391): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAT TATATATTATAGAATATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATATTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0289 a0001c0001t0006g0289	1	286	0.0035	398	c.17 others(417): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNX29_chr16_11971734_12579287	12322906	G G	GGTCACTG others(391): Show GGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCA CCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTGT CAGGATGTGGTCACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGA TGTGGTCACTAGAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTG TCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCA CTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGG GACCACTGTCAGGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGA TGCGGTCACTGGAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0145 a0003c0008t0011g0145	1	157	0.0064	398	c.178 others(419): Show c.1783-33171_1783-33170insTGGGGACCACTGTCAGGATGTGGT CACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGATGTGGTCACTA GAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTGTCAGGATGCGG TCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACC GGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCA GGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGATGCGGTCACTG GAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTC ACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTG TCAGGATGCGGTCACTGGAGTCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12322906	G G	GGTCACTG others(391): Show GGTCACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCA CCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACTGGGGACCACTGT CAGGATGTGGTCACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGA TGTGGTCACTAGAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTG TCAGGATGCGGTCACTGGAGTCACTGGGGACCACTGTCAGGATGCGGTCA CTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGG GACCACTGTCAGGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGA TGCGGTCACTGGAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03017.hp2 HG01993.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0091 a0001c0004t0023 a0001c0002t0091 a0001c0004t0023	a0001c0002t0091g0087 a0001c0004t0023g0149 a0001c0002t0091g0087 a0001c0004t0023g0149	2	158	0.0127	398	c.178 others(419): Show c.1783-33171_1783-33170insTGGGGACCACTGTCAGGATGTGGT CACTGGAGTCACTGGAGTCACCGATGACCACTGTCAGGATGTGGTCACTA GAGGACCACTGTCAGGATGCGGTCACTAGGGGACCACTGTCAGGATGCGG TCACTGGAGTCACTGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACC GGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTCA GGATGCGGTCACTGGAGTCACTGCGGACCACTGTCAGGATGCGGTCACTG GAGTCACTGGGGACCACTGTCAGGATGTGGTCACTGGAGTCACTGGAGTC ACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTG TCAGGATGCGGTCACTGGAGTCAC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(391): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0008 a0001c0003t0046g0009 a0001c0003t0046g0008 a0001c0003t0046g0009	2	112	0.0179	398	c.-11 others(419): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATAATGA TATATAATATATATCATTATATAACATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(391): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATATTATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA TATCATTATATAACATATAATGATATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01943.hp2 NA18964.hp1 others(1): Show HG01169.hp2 HG01943.hp2 NA18964.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0002t0018 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0018 a0001c0002t0052	a0001c0001t0005g0067 a0001c0001t0006g0298 a0001c0002t0018g0265 others(1): Show a0001c0001t0005g0067 a0001c0001t0006g0298 a0001c0002t0018g0265 a0001c0002t0052g0280	4	114	0.0351	398	c.-11 others(419): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATATTATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATATATCATTATATAACATATAATGATATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(391): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAAGGGGGAGGG GGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	12	0.0833	398	c.34 others(407): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTT CCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852444	T T	TCCCTCTC others(391): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG04228.hp1 HG01516.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0098 a0001c0003t0001g0178 a0001c0001t0001g0098 a0001c0003t0001g0178	2	353	0.0057	398	c.645 others(415): Show c.645+1785_645+1786insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATC CCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATC CCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(391): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGG GGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGG GGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGG GGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	6	0.1667	398	c.138 others(417): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCT CCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(391): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGGGGGGAGGGAAGGGGGA AGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGGAAGA GAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAA GAAGGGAAGGGAAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02055.hp2 HG03471.hp2 HG01346.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0142 a0001c0001t0001g0032 a0001c0001t0001g0142	3	16	0.1875	398	c.40 others(409): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTCCCTTCCCCTCTTCCCTCCCTCT CTTCCCTCCCCCTCTTCCCCCTTCCCTCCCCCCTTTCCTTCCCTTCCCTC GCCCTCTTCCCTTCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTT CCTTCCCTTGTTCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTT CCCTTCTTCCCTTCCCCTTCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTC CCCTTCCCTCCCCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTC CCTTCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(391): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGG GAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	81	0.0123	398	c.104 others(417): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCGGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(391): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCTGGCCCGGCCAGCCGCCCCGTCTGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGG GAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0102 a0003c0005t0006g0102	1	81	0.0123	398	c.104 others(417): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCTGGCCCGG CCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(391): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGC CCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGGG AAGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0226 a0001c0002t0002g0226	1	81	0.0123	398	c.104 others(417): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(391): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGGCCCGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCCTCTGG GAAGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCATCGGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	81	0.0123	398	c.104 others(417): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGGCCCGGC CAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCCTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCATCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SYNPR_chr3_63273308_63621924	63595745	A A	ATAATTTT others(391): Show ATAATTTTATATATATATAGTTTTATATATATATATATATATAATTTTAT ATATATATAGTTTTATATATATATATATATAATTTTATATATATATAGTT TTATATATATATATATATATAATTTTATATATATATAGTTTTATATATAT ATATATATAATTTTATATATATATAGTTTTATATATATATATATATAATT TTATATATATATAGTTTTATATATATATATATATAATTTTATATATATAT AGTTTTATATATATATATATATATAATTTTATATATATATAGTTTTATAT ATATATATATATATAATTTTATATATATATAGTTTTATATATATATATAT ATATAATTTTATATATATATAGTTTTATATATATATATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	234	0.0043	398	c.409 others(417): Show c.409-13378_409-13377insATTTTATATATATATAGTTTTATATA TATATATATATATAATTTTATATATATATAGTTTTATATATATATATATA TAATTTTATATATATATAGTTTTATATATATATATATATATAATTTTATA TATATATAGTTTTATATATATATATATATAATTTTATATATATATAGTTT TATATATATATATATATAATTTTATATATATATAGTTTTATATATATATA TATATAATTTTATATATATATAGTTTTATATATATATATATATATAATTT TATATATATATAGTTTTATATATATATATATATATAATTTTATATATATA TAGTTTTATATATATATATATATATAATTTTATATATATATAGTTTTATA TATATATATATATATAATTTTA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(391): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGGAGGGAGGGTGTGGGGGGGAGGGAGGGGGGCGGCGGGAGGA GGGAGGGGGCGGCGGGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGGG CGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0027 a0001c0008t0001g0027	1	72	0.0139	398	c.309 others(417): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCCCC CCACACCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCT CCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCAT GCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCC CCCCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAA CCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCC ACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(391): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGGAGGGAGGGTGCAGCAG GGGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGG CGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGGCGGCGGGAGGA GGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGC GGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGGCGGCGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	72	0.0139	398	c.309 others(417): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCCCC CACACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGCCCCCTCC CTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCCATG CCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCCTCCCTCC CCCCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAA CCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCTGCC ACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(391): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GGAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGG CAGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAG GGGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGG GCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGCGGCGGGAGGA GGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGC GGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0188 a0001c0004t0001g0188	1	72	0.0139	398	c.309 others(417): Show c.3091-8707_3091-8706insCTCCCCCCCGCCGCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCT CCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCC ACACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCGCCGCCCCCTCC CTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCATGC CCTCCCTACCCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTCCCTCCC CCCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCACAAC CTCCCTCCCCCACCACACCCTCCCCCCCACTGCACCCTCCCTCCCCTGCC ACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
THNSL2_chr2_88165346_88191627	88181212	T T	TCTCTCTC others(391): Show TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCCTCTCC TTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCT CTATCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	52	0.0192	398	c.803 others(415): Show c.803-1471_803-1470insTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCC TCTCCTTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTC TCTCTCTATCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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