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
MINK1_chr17_4828340_4903061	4852802	G G	GTGGGGGA others(468): Show GTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGT TTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGT GGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGT GGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGTGGA GTGTGTTTGGTGGGGGAGTGTGGTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 NA20300.hp1 HG02615.hp2 HG02717.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0156 a0001c0008t0002g0157 a0001c0008t0002g0158 a0001c0008t0002g0156 a0001c0008t0002g0157 a0001c0008t0002g0158	3	338	0.0089	475	c.57+ others(492): Show c.57+19162_57+19163insTGGGGGAGTGTGGTTGGTGGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAG TGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAG TGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAG TGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGG GGAGTGTGGTTGATGGGTGGAGTGTGTTTGGTGGGGGAGTGTGGTTT	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31			chr17	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(468): Show ATATATATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATA TATTTTATATATAAAATCTTATTTTATATATATTTTATATATAAAATCTT ATTTTATATATATTTTATATATAAAATCTTATTTTATATATATTTTATAT ATATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCT TTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATA TATAAAATCTTACTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	277	0.0036	475	c.-5+ others(490): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGA TTTTATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATA TAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGT ATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAA ATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATAT AAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAA GATTTTATGTATATAAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MVP_chr16_29815462_29853021	29843590	A A	AAGGGAGG others(468): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGG AGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAG GAAGGGAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	195	0.0051	475	c.163 others(492): Show c.1635-896_1635-895insAAGGGAGGAAGGGAGGGAGGGAGGGAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGA AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAA GGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGG GAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGG GAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(468): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCC TTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCCC TGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	86	0.0116	475	c.-41 others(486): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(468): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACT GTATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	2	119	0.0168	475	c.-75 others(494): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGT ATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTG CATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACATACAGTATACATACATACAGTATACATACATACAGTATA CATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NMRK2_chr19_3928069_3947416	3937900	C C	CGCTCCCC others(468): Show CGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCT CCCCCTCCACTGTCCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCC CTCCACTGTCCCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAAT ACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCTGCAATACCT GCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTC CCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCCCCG TCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCTCCA CTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCACTGT CCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGTTCCC CTGGGGTCCGCCCTCCTGCAATACCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp2 HG02451.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0127 a0001c0001t0001g0100 a0001c0001t0001g0127	2	369	0.0054	475	c.166 others(490): Show c.166+628_166+629insCCCCCCGGGGTCCACCCTCCTGCAATGCCC GCTCCCCCTCCACTGTCCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTC CCCCTCCACTGTCCCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGC AATACCTGCTCCCCGTCCACTGTTCCCCTGGGGTCCGCCCTCCTGCAATA CCTGCTCCCCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCG CTCCCCGTCCACTGTTCCCCCGGGGTCCACCCTCCTGCAATACCCGCTCC CCGTCCACTGTCCCCCCGGGGTCCACCCTCCTGCAATGCCCGCTCCCCCT CCACTGTCCCCCCGGGGTCTGCCCTCCTGCAATACCTGCTCCCCGTCCAC TGTCCCCCCGGGGTCCACCCTCCTGCAATACCTGCTCCCCGTCCACTGTT CCCCTGGGGTCCGCCCTCCTGCAATACCTGCTCCCCGTCCACTGT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(468): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGG GAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGA AAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGA GGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGG GGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGG GAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAA GGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0302 a0001c0001t0086g0302	1	205	0.0049	475	c.154 others(492): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTTCTCCCTTCCCCCTTTC CCCTCCCCCTCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCC TTTCCCCTCTCCCTCCCCCACCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(468): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGG GTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGAG GGAGAAGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGA GGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGAGGGGA GGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGG GGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGG GGAAGGGAGGGGAGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAA GGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0051 a0002c0002t0010g0051	1	205	0.0049	475	c.154 others(492): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCTCCCCTCCCTTCCCC CTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCC TTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCCTC CCCTCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTC CCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCT CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(468): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTCCCCTCC CCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTC CCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0038 a0001c0005t0013g0038	1	30	0.0333	475	c.433 others(492): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAA GGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(468): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT GTAACTATATAAAATATATAGTTATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0271 a0001c0003t0002g0271	1	314	0.0032	475	c.489 others(492): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(468): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCC TCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCAC CCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTT CCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCC TCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTT CCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCTTCCCTCCCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	61	0.0164	475	c.-14 others(486): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCTTCCCTCCC TCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCT CCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCC CTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTC CCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCT CCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCC CTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1277		chr16	TogoVar
PASK_chr2_241101099_241154472	241116183	A A	AGCATCCC others(468): Show AGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACACC AGGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCT CAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACA CCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTC CCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTA CACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGG TCCTCAAGCATCCCATTACACCGGGGCCACCGGTCCTCAAGCATCCCATT ACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACGCCAGGGACACCTG GTCCCCAAGCATCCCGTTACACCAGGGCCACCCAGTCCCCAAGCATCCCA TTACACCAGGGCCACACGGTCCTCAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02723.hp2 HG02145.hp2 HG02486.hp1 HG02723.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0109 a0008c0016t0001g0110 a0008c0016t0001g0319 a0008c0016t0001g0109 a0008c0016t0001g0110 a0008c0016t0001g0319	3	194	0.0155	475	c.307 others(492): Show c.3073-771_3073-770insCTGAGGACCGTGTGGCCCTGGTGTAATG GGATGCTTGGGGACTGGGTGGCCCTGGTGTAACGGGATGCTTGGGGACCA GGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAA TGGGATGCTTGAGGACCGGTGGCCCCGGTGTAATGGGATGCTTGAGGACC GGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTA ATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGA CCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTG TAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAG GACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGG TGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(468): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp1 HG02559.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0015 a0001c0009t0003 a0001c0009t0015	a0001c0009t0003g0007 a0001c0009t0015g0008 a0001c0009t0003g0007 a0001c0009t0015g0008	2	51	0.0392	475	c.129 others(492): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCTGAAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDXK_chr21_43714129_43767299	43741453	C C	CGGGGGCT others(468): Show CGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGCTCGCGGGGGG CTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGCTCGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCAGGGGGGCTCGCGGGGGGTTCGCGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCT CGCGGGGGCCTCGCAGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0345 a0001c0001t0084g0345	1	326	0.0031	475	c.143 others(490): Show c.143-209_143-208insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCG CGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGTTCGCGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGGCTCGCGGGGGCCTCGCAGGGGGCTCGCAGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTCTG others(468): Show TGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTG TGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCT GGTGCCCGTGTGTGTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0182 a0002c0001t0001g0182	1	320	0.0031	475	c.-10 others(492): Show c.-10+1012_-10+1013insGTGTCTGGCTAGCCTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTC CCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAG CCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGG GGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGC GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGG CGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLEKHG4B_chr5_87168_194966	101061	T T	TAATCCAT others(468): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG ACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCC TGTAGGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0064 a0001c0015t0064	a0001c0015t0064g0153 a0001c0015t0064g0153	1	89	0.0112	475	c.45+ others(490): Show c.45+8837_45+8838insAAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101562	T T	TCTGTAGG others(468): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGCTAAT CCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTA AATCCATATAAAGCCCGGGGAAAAGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0093 a0004c0006t0093	a0004c0006t0093g0049 a0004c0006t0093g0049	1	175	0.0057	475	c.45+ others(490): Show c.45+9312_45+9313insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGA AAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGCTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCAT ATAAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101562	T T	TCTGTAGG others(468): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTA AATCCATATAAAGCCCGGGGAAAAGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0094 a0004c0043t0094	a0004c0043t0094g0100 a0004c0043t0094g0100	1	175	0.0057	475	c.45+ others(490): Show c.45+9312_45+9313insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGA AAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCAT ATAAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2122363	G G	GTCACGGT others(468): Show GTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGT CATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGC TGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA TGGTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACAGTGGTGGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTGGT TAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	198	0.0051	475	c.335 others(494): Show c.335-12898_335-12897insCACGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCGTCA TGGTGGTGGTTAGGGTCATGGCTGTAGTTAGGGTCACGGCTGTAGTTAGG GTCACGGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACAGTGGTGGTTAGGGTCACAGCGA TAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133982	T T	TCTCTTCC others(468): Show TCTCTTCCTCCCTCTCCACCTCCCCTCTCCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCTCCCTCT CTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCTCTCCACCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	114	0.0088	475	c.25 others(486): Show c.2550_*2551insCTCTTCCTCCCTCTCCACCTCCCCTCTCCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCTCCCTCTCTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCTCTCCACCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2270		chr19	TogoVar
PTPN4_chr2_119754922_119989899	119843893	A A	ACCTCCCG others(468): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCC CTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACATCCCCACCTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	68	0.0147	475	c.139 others(494): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPRH_chr19_55176247_55214501	55207594	G G	GGTCTGAG others(468): Show GGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGA GAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTT GAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGG CTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGA CCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAG GGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGG GGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAG GAGAGGTTGGGGGCCTGGACTCCTGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01106.hp2 others(6): Show HG00642.hp2 HG00733.hp2 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG03471.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0002c0002 a0001c0020 a0002c0002	a0001c0020t0001 a0002c0002t0002 a0001c0020t0001 a0002c0002t0002	a0001c0020t0001g0156 a0002c0002t0002g0004 a0002c0002t0002g0009 others(1): Show a0001c0020t0001g0156 a0002c0002t0002g0004 a0002c0002t0002g0009 a0002c0002t0002g0051	9	376	0.0239	475	c.52- others(488): Show c.52-870_52-396dupTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCT CAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCC CCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGA CTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGA CCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTC CTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCA GAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCC CTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGAC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGC others(468): Show GCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	247	0.0040	475	c.-49 others(486): Show c.-4917_-4916insCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(468): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0001 a0001c0012t0001g0001	1	247	0.0040	475	c.-49 others(486): Show c.-4917_-4916insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RFX2_chr19_5988164_6115500	6069986	T T	TGGATGGG others(468): Show TGGATGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGG ATGGAATGGGATGTGGATGGGATAGAATCGGATGTGAATGGGGTGGAATG GGATATGATGGGGTGGGATGGGATGTGGATGGGATGGGATGGGATGTGGA TGGGATGGAATGGGATGTGGATGGGATGGAATGGGATGTGGATGGGATAG AATCGGATGTGAATGGGGTGGAATGGGATGTGAATGGGGTGGGATGGGAT GTGGATGGGGTGGGATGGGATGGGATGTGGATGGGATGGAATGGGATGTG GATGGGATGTGATGGGATGTGGATGGGGTGGAACGGGATGTGGATGGGGT GGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGG ATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGAT AGAGTGGGATGGGATGGGATGGGATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(82): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18955.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA19003.hp1 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0015 a0004c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0018 a0002c0006t0001 a0002c0006t0003 a0002c0015t0001 a0004c0013t0002	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0147 others(81): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0147 a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0004g0246 a0001c0001t0009g0244 a0001c0001t0009g0290 a0001c0001t0015g0286 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0002g0001 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0086 a0002c0002t0002g0200 a0002c0002t0002g0206 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0080 a0002c0002t0003g0097 a0002c0002t0003g0124 a0002c0002t0007g0125 a0002c0002t0008g0061 a0002c0002t0010g0060 a0002c0002t0018g0214 a0002c0006t0001g0099 a0002c0006t0001g0207 a0002c0006t0003g0094 a0002c0006t0003g0095 a0002c0015t0001g0180 a0004c0013t0002g0250	85	134	0.6343	475	c.-8- others(492): Show c.-8-22483_-8-22482insCATCCCATCCCATCCCATCCCACTCTAT CCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCC CATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCAC CCCATCCACATCCCGTTCCACCCCATCCACATCCCATCACATCCCATCCA CATCCCATTCCATCCCATCCACATCCCATCCCATCCCACCCCATCCACAT CCCATCCCACCCCATTCACATCCCATTCCACCCCATTCACATCCGATTCT ATCCCATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATC CACATCCCATCCCATCCCATCCACATCCCATCCCACCCCATCATATCCCA TTCCACCCCATTCACATCCGATTCTATCCCATCCACATCCCATTCCATCC CATCCACATCCCATTCCATCCCATCCACATCCCATTCCATCCCATCC	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RGPD4_chr2_107821892_107897544	107829042	G G	GCTCCCGA others(468): Show GCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTG GACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGTGGCGACCTCGAT GGCTCAGGCGTCATGGCTCCCGACGGCCGCTGCTCCCTGACGCGCTCTGT TGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCG TCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGACGGCG GCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCGTCATGGCTCC CGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCT GGCCCGGCGGCGGCCTCGATGACTCAGGCGTCATGGCTCCCCACGGGCGC TGCTCCCTGGAACGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGG CAGCCTCGATGGCTCAGGCGTCATGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0090 a0004c0004t0002g0090	1	224	0.0045	475	c.72+ others(490): Show c.72+2005_72+2006insGGACCTGGCCGGGCGGCGGCGGCCTCGACC TGGCCCGGTGGCGACCTCGATGGCTCAGGCGTCATGGCTCCCGACGGCCG CTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCG GCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGACGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGACTCAGGC GTCATGGCTCCCCACGGGCGCTGCTCCCTGGAACGCTCTGTTGAGGCAGC GGCCTCGACCTGGCCGGGCGGCAGCCTCGATGGCTCAGGCGTCATGCCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829132	G G	GCTCCCGA others(468): Show GCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTG GACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGTGGCGACCTCGAT GGCTCAGGCGTCATGGCTCCCGACGGCCGCTGCTCCCTGACGCGCTCTGT TGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCGCGATGGCTCAGGCG TCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGACGGCG GCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCGTCATGGCTCC CGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCT GGCCCGGCGGCGGCCTCGATGACTCAGGCGTCATGGCTCCCGACGGGCGC TGCTCCCTGGAACGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGG CAGCCTCGATGGCTCAGGCGTCATGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG04228.hp1 HG02486.hp1 HG04228.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0075 a0003c0002t0003g0076 a0003c0002t0003g0075 a0003c0002t0003g0076	2	368	0.0054	475	c.72+ others(490): Show c.72+2095_72+2096insGGACCTGGCCGGGCGGCGGCGGCCTCGACC TGGCCCGGTGGCGACCTCGATGGCTCAGGCGTCATGGCTCCCGACGGCCG CTGCTCCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCG GCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGACGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGACTCAGGC GTCATGGCTCCCGACGGGCGCTGCTCCCTGGAACGCTCTGTTGAGGCAGC GGCCTCGACCTGGCCGGGCGGCAGCCTCGATGGCTCAGGCGTCATGCCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829182	G G	GACCTGGC others(468): Show GACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGTGGCGACCTCGAT GGCTCAGGCGTCATGGCTCCCGACGGCCGCTGCTCCCTGACGCGCTCTGT TGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCGCGATGGCTCAGGCG TCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGACGGCG GCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAGGCGTCATGGCTCC CGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCT GGCCCGGCGGCGGCCTCGATGACTCAGGCGTCATGGCTCCCGACGGGCGC TGCTCCCTGGAACGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGG CAGCCTCGATGGCTCAGGCGTCATGCCTCCCGACGGGCGCTGCTCCCTGG CGCGCTCTGTTGAGGCGGCGGCCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA20805.hp2 HG00280.hp1 NA20805.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0006 a0003c0002t0003 a0003c0002t0006	a0003c0002t0003g0077 a0003c0002t0006g0078 a0003c0002t0003g0077 a0003c0002t0006g0078	2	364	0.0055	475	c.72+ others(490): Show c.72+2100_72+2101insTGGCCGGGCGGCGGCGGCCTCGACCTGGCC CGGTGGCGACCTCGATGGCTCAGGCGTCATGGCTCCCGACGGCCGCTGCT CCCTGACGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGC CGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCG CTCTGTTGAGACGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCT CAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAG GCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGACTCAGGCGTCAT GGCTCCCGACGGGCGCTGCTCCCTGGAACGCTCTGTTGAGGCAGCGGCCT CGACCTGGCCGGGCGGCAGCCTCGATGGCTCAGGCGTCATGCCTCCCGAC GGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SARDH_chr9_133658560_133743352	133669091	T T	TCCCCTCA others(468): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCT CCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCC CTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCC TCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCATCTCCCT CACCCTCCCTCTCCCTCACCCTCCCTCTCCTCACCCTCCATCTCCCCTCA CCCTCCATCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCTCTCTCCTTCCCTCTCCCTCACCCTCCCTCTCCCCTCAT CCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	247	0.0040	475	c.249 others(494): Show c.2495+1492_2495+1493insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAAGGAGAGAGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGG TGAGGGGAGATGGAGGGTGAGGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGATGGAGGGTGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGA GGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAG GGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG AGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGG AGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGATGGAGGGTGAGGGG AGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1166025	C C	CCCAGATC others(468): Show CCCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGAT CCTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACC CCAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCC CAGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCC CAGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTC AGACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCA GACCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCA GACCCCAGATCACCAGATCTCAGACCCCAGACCCCAGATCCCAGACTTCA GATCCCTAGACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCA GACCCCAGATCCCAGACCCCAGATCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	202	0.0050	475	c.-12 others(494): Show c.-127+8146_-127+8147insTGATCTGGGGTCTGGGATCTGGGGTC TGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTCTAGGGATC TGAAGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTGGTGATCTGGGGTC TGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTCTGGGGGTC TGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCTGGGGTCT GAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAGGATCTG GGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGATCTG GGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGG GGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGGTCTAGG ATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAGATCTGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166026	C C	CCAGATCT others(468): Show CCAGATCTCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCCAGATC CTAGACCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCCCAGACCC CAGATCTCAGACCCCAGATCCCAGACCCCAGATCCTAGATCTCAGACCCC AGATCTCAGACCCCAGACCCCAGATCCCAGACCCCAAGATCCCAGACCCC AGATCCTAGATCCCAGACCTCAGACCCCAGATCTCAGACCCCAGATCTCA GACCCCAGATCCCAGATCCCAAAACCCAGACCCCAGACCTCAGACCTCAG ACCCCCAGACCCCAGATCCCAGACCCCAGACCTCAGACCCCAGATCCCAG ACCCCAGATCACCAGATCTCAGACCCCAGATCCCAGACTTCAGATCCCTA GACCTCAGACCCCAGACCCCAGATCCCAGACCCCAAACCTCAGACCCCAG ATCCCAGACCCCAGATCACCAGATCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0071 a0003c0021t0001g0071	1	79	0.0127	475	c.-12 others(494): Show c.-127+8145_-127+8146insAGATCTGGTGATCTGGGGTCTGGGAT CTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGGTC TAGGGATCTGAAGTCTGGGATCTGGGGTCTGAGATCTGGTGATCTGGGGT CTGGGATCTGGGGTCTGAGGTCTGGGGTCTGGGATCTGGGGTCTGGGGGT CTGAGGTCTGAGGTCTGGGGTCTGGGTTTTGGGATCTGGGATCTGGGGTC TGAGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGATCTAGGATCT GGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGGGGTCTGAGATCT GGGGTCTGAGATCTAGGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTG GGGTCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGGTCTGGGGTCTAG GATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGGGGTCTGAGATCTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAC others(468): Show TCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGACCCCAGACCTCAGA CCCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGAT CCCAGACCCCAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACC CCAGATCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGATCCCAGACC TCAGACCCCAGATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCC CAAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGATCC CAGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATCT CAGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACCC CAGACCCCAGATCCCAGACCCCAAACCTCAGACCCCAGATCCCAGACCCC AGATCACCAGATCTCAGACCCCAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02602.hp1 HG02922.hp2 others(2): Show HG02055.hp1 HG02602.hp1 HG02922.hp2 HG03130.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0003 a0001c0004 a0001c0006 a0002c0003	a0001c0004t0001 a0001c0006t0006 a0002c0003t0001 others(1): Show a0001c0004t0001 a0001c0006t0006 a0002c0003t0001 a0002c0003t0006	a0001c0004t0001g0154 a0001c0006t0006g0049 a0002c0003t0001g0010 others(2): Show a0001c0004t0001g0154 a0001c0006t0006g0049 a0002c0003t0001g0010 a0002c0003t0001g0045 a0002c0003t0006g0030	5	16	0.3125	475	c.-12 others(494): Show c.-127+8126_-127+8127insGTCTGGGGTCTGAGATCTGGTGATCT GGGGTCTGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTG GGGTCTGAGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTG AGATCTGGTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTG GGATCTGGGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTG GGATCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGA GGTCTGGGATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGG GGTCTGGGGTCTGAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGG ATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGG TCTGAGGTCTGGGGTCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(468): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	182	0.0055	475	c.632 others(492): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(468): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACTGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0047 a0001c0002t0004g0047	1	182	0.0055	475	c.632 others(492): Show c.632+8161_632+8162insTGTATTTATTTATAAATACAGTATTTAT TTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAG TATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATA AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAAT ACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATT TATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430103	A A	AGTATTTG others(468): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACAGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0204 a0001c0001t0001g0003 a0001c0001t0001g0204	3	304	0.0099	475	c.632 others(492): Show c.632+8149_632+8150insGTTTATAAATACAGTATTTGTTTATAAA TACAGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(468): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGT TGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	136	0.0074	475	c.464 others(488): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTACCC others(468): Show TTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTAT CCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCC CCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCC CACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCA CAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAG CATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACGCCCCCCACAAGC ATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCA CTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTG CTCCAACCCTCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20905.hp1 HG03239.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0009 a0002c0002t0010 a0001c0008t0009 a0002c0002t0010	a0001c0008t0009g0113 a0002c0002t0010g0112 a0001c0008t0009g0113 a0002c0002t0010g0112	2	123	0.0163	475	c.89- others(488): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGCGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGG GGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATA GAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAA TGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976981	T T	TGAGGCTG others(468): Show TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0063 a0003c0001t0063	a0003c0001t0063g0033 a0003c0001t0063g0033	1	107	0.0093	475	c.199 others(494): Show c.1994+2455_1994+2456insTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGG GGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLA2_chr20_36607318_36651196	36642163	C C	CTCTCAAA others(468): Show CTCTCAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCA GGCTTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTT ATTGGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTG CTGAGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGC ACTTAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTT AGGAGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAA AGAAACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAG CTATTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGA GATGGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACT CCAGCCCAGGCAAGAGTGAGACGCTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	134	0.0075	475	c.-43 others(490): Show c.-43-786_-43-785insCAGCGTCTCACTCTTGCCTGGGCTGGAGTG CAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATCTCCC AAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAGCTGG GATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCTTTTG TAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCTAAAC TCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGTGCTC GGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAGCAAC TCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAATAACA GTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCCTGCT CAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTGAGA	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642168	A A	AAAAAAAA others(468): Show AAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCT TGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATTG GTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGA GATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTT AATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGA GTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAA ACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTAT TCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATG GAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAG CCCAGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03471.hp2 NA18974.hp1 others(1): Show HG02451.hp2 HG03471.hp2 NA18974.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0247 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0336	4	355	0.0113	475	c.-43 others(490): Show c.-43-791_-43-790insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642169	A A	AAAAAAAA others(468): Show AAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCT TGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATTG GTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGA GATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTT AATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGA GTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAA ACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTAT TCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATG GAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAG CCCAGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0339 a0002c0002t0004g0339	1	354	0.0028	475	c.-43 others(490): Show c.-43-792_-43-791insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642175	A A	AAAAAAAA others(468): Show AAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCTTGAGAGCTGGTG TCACAGCAAGCCAAGGTGACACAGATACACTGTTATTGGTGTCACAGGGC CAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGAGATTACAGGCAT GAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTTAATCCCAGCACT TGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGAGTTCTAGACCAG CCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAAACCACAAAAATT AGCCGGCTGCGGTGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGA GGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATGGAGTTCACAGTG AGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAGCCCAGGCAACAG AGTGAGACGCTGTCTCAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0340 a0001c0005t0010g0340	1	358	0.0028	475	c.-43 others(490): Show c.-43-798_-43-797insCTTTTTTTTTGAGACAGCGTCTCACTCTGT TGCCTGGGCTGGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACT GTGAACTCCATCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAG CCTCCCGAATAGCTGGGATTACAGGTGTGTGCCACCGCAGCCGGCTAATT TTTGTGGTTTCTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGG TCTAGAACTCCTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTG CTGGGATTAAGTGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGC CTGTAATCTCAGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCC TGTGACACCAATAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACC AGCTCTCAAGCCTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	TATATTAT others(468): Show TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	104	0.0096	475	c.12+ others(490): Show c.12+3676_12+3677insTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATAAAATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TCF3_chr19_1604292_1657615	1627920	A A	AGGCGGGA others(468): Show AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCATGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGG ATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGAAAGG GACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGATGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0109 a0001c0004t0003g0109	1	336	0.0030	475	c.299 others(490): Show c.299-495_299-494insCCATCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCTT TCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTGAGCTCTGCTGTCC CCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CATGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(468): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGG AAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0083 a0002c0001t0006g0083	1	220	0.0045	475	c.299 others(492): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTG TCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TDRP_chr8_484946_549834	511349	T T	TAAAAAAT others(468): Show TAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCATGGAATGGGAAAATTTATTTGCAAAGCATACATCTGATAA GGAGTTATTACTCAAAATATATAAGGAACTCAAACAACTCAATAGCAAGA AAACCAAAATCCAAATTCAAAAAATAGGCAATAGACCGGAATAGACATTT TGCTTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTTATTTA TTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAG TTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATG TGCCATGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTA ATGCTAGATGACACATTAGTGGGTGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	439	0.0023	475	c.109 others(494): Show c.109-16753_109-16752insGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAA TAAATAAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAAGCA AAATGTCTATTCCGGTCTATTGCCTATTTTTTGAATTTGGATTTTGGTTT TCTTGCTATTGAGTTGTTTGAGTTCCTTATATATTTTGAGTAATAACTCC TTATCAGATGTATGCTTTGCAAATAAATTTTCCCATTCCATGAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTTT	TDRP	ENSG00000180190.13	transcript	ENST00000324079.11	protein_coding	1/2			chr8	TogoVar
TIMM22_chr17_992129_1008671	993563	C C	CCTCACAT others(468): Show CCTCACATAATCCACCCTCACATAATCCACCCTCACATAATCCACCCTCA CATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATC CACCCCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCT CACATAATCCACCCTCACATAATCCACCCTCACATAATCCACCCTCACAT AATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCAC CCCTCACATAATCCACCTCACATAATCCACCCACACTCACATAATCCACC TCACATAATCCACCCTCACATAATCCACCCTCACGTAATCCACCTCACAT AATCCACCTCGCATAATCCACCCACCCTCACATAATCCACACTCACATAA TCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCT CACATAATCCACCCTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	436	0.0023	475	c.-35 others(486): Show c.-3580_-3579insCTCACATAATCCACCCTCACATAATCCACCCTCA CATAATCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATC CACCCTCACATAATCCACCCCTCACATAATCCACCCTCACATAATCCACC TCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCAC CCTCACATAATCCACCCCTCACATAATCCACCTCACATAATCCACCCACA CTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACG TAATCCACCTCACATAATCCACCTCGCATAATCCACCCACCCTCACATAA TCCACACTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCC TCACATAATCCACCTCACATAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3565		chr17	TogoVar
TNFRSF18_chr1_1198508_1211592	1201778	G G	GCCAGTAC others(468): Show GCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCGGAGCCCAG TACCCAGCCCCGAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCC AGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCC GGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCC AGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCC CCAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTAC CCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCCAGC CCAGTACCCGGCCCCCAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	214	0.0047	475	c.20 others(486): Show c.2065_*2066insGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTA CTGGGCTGGGGGCTGGGTACTGGGCTGGGGGCCGGGTACTGGGCTGGGGG CCGGGTACTGGGCTCGGGGCCGGGTACTGGGCTGGGGGCCGGGTACTGGG CTCGGGGCCGGGTACTGGGCTGGGGGCCGGGTACTGGGCTGGGGGCCGGG TACTGGGCTCGGGGCCGGGTACTGGGCTGGGGGCCGGGTACTGGGCTCGG GGCCGGGTACTGGGCTGGGGGCCGGGTACTGGGCTCGGGGCCGGGTACTG GGCTGGGGGCCGGGTACTGGGCTCGGGGCCGGGTACTGGGCTGGGGGCCG GGTACTGGGCTCGGGGCCGGGTACTGGGCTCGGGGCTGGGTACTGGGCTC CGGGCCGGGTACTGGGCTGGGGGCCGGGTACTGGGCTCGGGGCTGGGTAC TGGGCTGGAGGCTGGGTACTGCGCTCGGGGCTGGGTACTGG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1729		chr1	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(468): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	8	0.1250	475	c.657 others(490): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL10_chr1_1168880_1202936	1201778	G G	GCCAGTAC others(468): Show GCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTCCAGCCCAGTACCCAG CCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCGGAGCCCAG TACCCAGCCCCGAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCC AGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCC GGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCC AGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCC CCAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTAC CCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCCAGC CCAGTACCCGGCCCCCAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0005 a0001c0021t0005	a0001c0021t0005g0153 a0001c0021t0005g0153	1	223	0.0045	475	c.39 others(486): Show c.3931_*3932insCCAGTACCCAGCCCCGAGCGCAGTACCCAGCCTC CAGCCCAGTACCCAGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACC CGGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCGGCCCCGAGCC CAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCC CCCAGCCCAGTACCCGGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTA CCCGGCCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAG CCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGG CCCCGAGCCCAGTACCCGGCCCCCAGCCCAGTACCCGGCCCCGAGCCCAG TACCCGGCCCCCAGCCCAGTACCCGGCCCCCAGCCCAGTACCCAGCCCCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGC	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		3843		chr1	TogoVar

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