Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NLGN1_chr3_173392744_174299372	174086258	C C	CATATATA others(231): Show CATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATACATATATATATTTATGTATGTGCATAAATATATATTTATGTA TGTGCATAAATATATATATATTTATGTATGTGCATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0014 a0001c0002t0011g0014	1	44	0.0227	238	c.707 others(259): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATATTTATGTA TGTGCATACATATATATATTTATGTATGTGCATAAATATATATTTATGTA TGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATATATT TATGTATGTGCATA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLK_chr17_28037677_28201381	28172264	A A	AAATTCCT others(231): Show AAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT ATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGA ATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATG AGGAATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTA CATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	108	0.0093	238	c.104 others(255): Show c.1048-253_1048-252insAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAATTTAT TTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAGGAAT TTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACATGAG GAATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTTACA TGAGGAATTT	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10			chr17	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(231): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATAGTTA TATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTA TATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	378	0.0027	238	c.489 others(255): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATA AAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA ATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA ATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(231): Show ATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0314 a0001c0001t0025g0314	1	378	0.0027	238	c.489 others(255): Show c.489+2827_489+2828insGTTATATAACTATATAAAATATATAGTT ATATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTATAT AACTATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAA CTATATAAAATATAGTTATATAACTATATAAAATATATAGTTATGTAACT ATAAAATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR11H4_chr14_20234286_20249349	20236907	T T	TATATTAC others(231): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATAT ACCACATATTACACGTGGCACATATAAAATATATACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03710.hp1 HG03490.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0234 a0001c0010t0001g0235 a0001c0001t0001g0234 a0001c0010t0001g0235	2	439	0.0046	238	c.-24 others(249): Show c.-2436_-2435insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACC ACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGC ACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATA CCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2378		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236941	T T	TATATTAC others(231): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATAT ACCACATATTACACGTGGCACATATAAAATATATACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02698.hp1 NA20905.hp1 HG02056.hp2 HG02698.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0257 a0001c0001t0002g0099 a0001c0001t0001g0008 a0001c0001t0001g0257 a0001c0001t0002g0099	3	439	0.0068	238	c.-24 others(249): Show c.-2402_-2401insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACC ACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGC ACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATA CCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2344		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20236975	T T	TATATTAC others(231): Show TATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCA CATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATAC CACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGG CACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATAT ACCACATATTACACGTGGCACATATAAAATATATACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02922.hp2 HG01516.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0258 a0001c0001t0003g0056 a0001c0001t0002g0258 a0001c0001t0003g0056	2	439	0.0046	238	c.-23 others(249): Show c.-2368_-2367insATATTACACGTGGCACATATAAAATATATACCAC ATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGCAC ATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATACC ACATATTACACGTGGCACATATAAAATATATACCACATATTACACGTGGC ACATATAAAATATATACCACATATTACACGTGGCACATATAAAATATATA CCAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		2310		chr14	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(231): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03017.hp2 NA19078.hp2 HG02129.hp1 HG03017.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	3	426	0.0070	238	c.33 others(249): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGACAATAAAGTTTTCATTGTGATCACACTACAGAAAAAAA TACCTTCTGTTCTTTGCAAAAAATGTGCGAAGGCCAAATCTGTGTTTTTC TTTTCTAAAAAAAAGGATGTTGCATGAGTTACAATGCAACCAGTATCTTT TTGTTTCTGCACTTGTTAAAAAATCATTTGATTTTTTAACAATTTGCCAT TTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(231): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGCGGGAGGG GAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	302	0.0033	238	c.155 others(255): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554953	C C	CCCCCTCC others(231): Show CCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCT CTCCCCCTCCCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0121 a0003c0003t0001g0121	1	308	0.0033	238	c.226 others(257): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCTC CCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCC TCTCCCCTCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCCCTCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(231): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCCTCCCC TCCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCT CTCCCCCTCCCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0001 a0023c0031t0001	a0023c0031t0001g0159 a0023c0031t0001g0159	1	308	0.0033	238	c.226 others(257): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCT CCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCC CTCTCCCCTCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(231): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCCCTCCTCCCCCT CCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCT CTCCCCCTCCCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0271 a0004c0005t0013g0271	1	308	0.0033	238	c.226 others(257): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCTC CCCTCCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCC CTCTCCCCTCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(231): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTC CTCCCCTCCCCCTCCTCCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCT CTCCCCCTCCCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	308	0.0033	238	c.226 others(257): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTGCCCTCCCCCTCCTC CCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCCTCCTCCC CTCTCCCCTCCTCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(231): Show CCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTGCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTC CTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCTCCCCTCCTCCCCTCCTC TCCCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCACTCCCCTTC CCCTCCCCTCCACTCCCCTTCCCCTCCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	308	0.0033	238	c.226 others(257): Show c.2262+7511_2262+7512insTCCCTTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTGCCCTCCCCCTCCTCC CCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCC TCTCCCCTCCTCCCCTCCTCTCCCCCCTCCCCTCCCCTCCTCTCCCCTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCC TCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(231): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTAATACA TATATAACATGTATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	238	c.70 others(249): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATTACATATATGTAATACATATATAACAT GTATTACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAACATGTATTACATATATGTAATACATATA TAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCNT_chr21_46319156_46450769	46413361	G G	GGGGGGAA others(231): Show GGGGGGAAGGCGCGAGGTCCCCCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCC CCTGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	332	0.0030	238	c.615 others(255): Show c.6150+380_6150+381insCGAGGTCCCCCCGGGAGAGGCTGGACAC GCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGA GGCTGGACACGCGGCAGCAAGGTGTGGGGAGCGGGGAAGGCACGAGGCCC ACCCGGGAGAGGCTGGACACGCGGCAGCAAGGTGTGGGGAGGGGGAAGGC GTGAGGCCCCCCTGGGAGAGGCTGGACACGCAGCAGCAAGGTGTGGGGAG GGGGAAGGCG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(231): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCACTTCCCCTCCCTCTCCCCTGCCCTCCC CCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCCTCCCCC ATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0113 a0001c0003t0003g0113	1	336	0.0030	238	c.-37 others(249): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAG GGGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGG GGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(231): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTC CCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCC CTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0298 a0001c0056t0001g0298	1	336	0.0030	238	c.-37 others(249): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(231): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTGC CCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCCC TCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01361.hp2 HG01123.hp1 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0006 a0001c0003t0001 a0001c0007t0006	a0001c0003t0001g0109 a0001c0007t0006g0068 a0001c0003t0001g0109 a0001c0007t0006g0068	2	336	0.0060	238	c.-37 others(249): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATG GGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGATGGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(231): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0046 a0008c0007t0001g0046	1	436	0.0023	238	c.111 others(255): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CGAAAGAA others(231): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAG AAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0154 a0002c0002t0007g0154	1	342	0.0029	238	c.20- others(253): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741185	C C	CGCGGGGG others(231): Show CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0333 a0002c0004t0017g0333	1	358	0.0028	238	c.143 others(253): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTG GCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(231): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	306	0.0033	238	c.349 others(257): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKP3_chr11_389209_409908	401948	G G	GCCCCGCT others(231): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCA CCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18971.hp2 NA19004.hp1 others(1): Show HG01256.hp1 NA18971.hp2 NA19004.hp1 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0153 a0001c0003t0001g0154 others(1): Show a0001c0003t0001g0149 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155	4	216	0.0185	238	c.173 others(257): Show c.1738-1130_1738-1129insCCCCGCTCACACCCGACCCGCTCACA CCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGC CCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCC GCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401951	C C	CCGCTCAC others(231): Show CCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCT CACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCC CGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCC CGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	216	0.0046	238	c.173 others(257): Show c.1738-1126_1738-1125insGCTCACACCCGACCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCG CTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCCCGCTC ACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCC CCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLD4_chr14_104919879_104938236	104933612	C C	CGGGAGGG others(231): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCG GCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCC GGGGCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGG GAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01109.hp2 others(9): Show HG00280.hp1 HG00741.hp2 HG01109.hp2 HG01255.hp1 HG01975.hp2 HG03239.hp1 HG03490.hp2 HG03704.hp1 HG04184.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012	12	426	0.0282	238	c.64 others(247): Show c.648_*649insGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGG GAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCT GAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGG CGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGT CTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGG GT	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		377		chr14	TogoVar
PMM2_chr16_8792839_8854325	8810783	T T	TTTTTTGT others(231): Show TTTTTTGTCTTCCTGAACTGTGAGATGGACATCTTTCTGACAAAGCTTTG AAAGGGTTTTTGTTGCCCGTGAGCACTGCCTGTAAATCACCTTCAGTGAA GATTCTCATTTTTCCCGCAAAATATGCCGGATGCAACCTGCTTCCGGGCA TTTCCCCCTGAGGGTGTGTTAAAGCCCGAGACAAGCACAGCAGAATGAGG CTGGTATCAGATTTTTCATAAGCATGCTTCCTTTAAACC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	408	0.0025	238	c.348 others(253): Show c.348-296_348-295insTTTTTGTCTTCCTGAACTGTGAGATGGACA TCTTTCTGACAAAGCTTTGAAAGGGTTTTTGTTGCCCGTGAGCACTGCCT GTAAATCACCTTCAGTGAAGATTCTCATTTTTCCCGCAAAATATGCCGGA TGCAACCTGCTTCCGGGCATTTCCCCCTGAGGGTGTGTTAAAGCCCGAGA CAAGCACAGCAGAATGAGGCTGGTATCAGATTTTTCATAAGCATGCTTCC TTTAAACC	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	4/7			chr16	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(231): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGT AATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATT CTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCA GTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATTA TTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01993.hp2 HG02004.hp1 others(6): Show HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02135.hp1 HG03831.hp2 NA18959.hp2 NA19068.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0172 a0001c0001t0001g0205 a0001c0001t0001g0279	9	314	0.0287	238	c.187 others(255): Show c.187-1561_187-1560insATTACTCCTCAGTAATTCTAGAAATTAT TCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCCTC AGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAATT ATTCTAGAATTACTCCTCAGTAATTCTAGAAATTATTCTAGAATTACTCC TCAGTAATTCTAGAAATTATTCTAGAATTACTCCTCAGTAATTCTAGAAA TTATTCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PXDN_chr2_1626887_1749515	1719975	A A	AGAGGGAG others(231): Show AGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGGGAGGGAGGGATGCAGAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGC AGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(34): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01433.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03491.hp1 HG03492.hp2 HG03834.hp1 HG04184.hp1 NA18942.hp2 NA18947.hp2 NA18962.hp1 NA18970.hp1 NA18973.hp1 NA18985.hp2 NA18997.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp2 NA19084.hp2 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0004 a0001c0005t0007 a0001c0006t0013 a0001c0008t0002 a0001c0015t0003 a0001c0045t0002	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 others(34): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0001g0214 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0158 a0001c0001t0002g0211 a0001c0001t0002g0271 a0001c0001t0003g0117 a0001c0001t0005g0300 a0001c0002t0002g0092 a0001c0002t0003g0074 a0001c0002t0003g0102 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0159 a0001c0002t0003g0279 a0001c0003t0001g0110 a0001c0004t0004g0312 a0001c0005t0007g0161 a0001c0006t0013g0310 a0001c0008t0002g0297 a0001c0015t0003g0116 a0001c0045t0002g0119	37	322	0.1149	238	c.200 others(257): Show c.200+24280_200+24281insCCTCTCTCTCTCTCTACATCCCTCCC TCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTC CCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTGCATCCC TCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATC CCTCCCTCCCTC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(231): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0131 a0001c0001t0046g0131	1	295	0.0034	238	c.139 others(257): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(231): Show TATATATAATACATAATATATATTATATAATATATATAATACATAATATA TATTATATAATAATATATAATACATTATATATATTATATAATATATATAA TACATTATATATATTATATAATATATATAATACATTATATATATTATATA ATATATATAATACATTATATATATTATATAATATATAATACATTATATTT TATATAATATAGATAATACATTATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0218 a0001c0001t0032g0218	1	220	0.0046	238	c.24+ others(255): Show c.24+13898_24+13899insTTATATAATATATATAATACATAATATA TATTATATAATAATATATAATACATTATATATATTATATAATATATATAA TACATTATATATATTATATAATATATATAATACATTATATATATTATATA ATATATATAATACATTATATATATTATATAATATATAATACATTATATTT TATATAATATAGATAATACATTATATATATTATATAATAATATATAATAC ATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044303	G G	GCCCCCCG others(231): Show GCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCTCACTCG CTGAGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACT CGCTGAGCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCC TCACTCGCTGAGCTCCCCCCCCCGCCTCACTCGCTGAGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	67	0.0149	238	c.278 others(255): Show c.278-3210_278-3209insGCTCAGCGAGTGAGGCGGGGGGGGGAGC TCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGG GGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGG GGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGG GGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGGCGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114133288	C C	CCCCCCCC others(231): Show CCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCCAGT CCCCCTGCAGACCCCGGCACCGGCAGGTCTCCCCCACCCAGTCCCCCTGC AGACCCCAGCATGAGCAGGTCCCCCCCCAGTCCCCCTGCAGACCCCAGCA TGAGCAGGTCCCCCCCCCAAGTCCCCCTGCAGACCCCAGCATGGGCAGGT CCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01433.hp2 HG02300.hp1 others(4): Show HG00639.hp1 HG01433.hp2 HG02300.hp1 HG03130.hp1 HG03490.hp1 NA18522.hp2 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0003c0008t0002	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0005g0023 a0001c0001t0006g0011 a0001c0001t0006g0012 a0003c0008t0002g0006	7	67	0.1045	238	c.-80 others(247): Show c.-800_-799insACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGG GGGACCTGCCCATGCTGGGGTCTGCAGGGGGACTTGGGGGGGGGACCTGC TCATGCTGGGGTCTGCAGGGGGACTGGGGGGGGACCTGCTCATGCTGGGG TCTGCAGGGGGACTGGGTGGGGGAGACCTGCCGGTGCCGGGGTCTGCAGG GGGACTGGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGG GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		666		chr13	TogoVar
RASA3_chr13_113972783_114137623	114133288	C C	CCCCCCCC others(231): Show CCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGTCCCCCCCGAGT CCCCCTGCAGACCCCGGCACCGGCAGGTCTCCCCCACCCAGTCCCCCTGC AGACCCCAGCATGAGCAGGTCCCCCCCCAGTCCCCCTGCAGACCCCAGCA TGAGCAGGTCCCCCCCCCAAGTCCCCCTGCAGACCCCAGCATGGGCAGGT CCCCCCCCAGTCCCCCTGCAGACCCCGGCATGGGCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG03225.hp1 others(1): Show HG02257.hp1 HG02723.hp1 HG03225.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0002c0004t0009 a0001c0001t0001 a0001c0001t0005 a0002c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0005g0018 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0005g0018 a0002c0004t0009g0010	4	67	0.0597	238	c.-80 others(247): Show c.-800_-799insACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGG GGGACCTGCCCATGCTGGGGTCTGCAGGGGGACTTGGGGGGGGGACCTGC TCATGCTGGGGTCTGCAGGGGGACTGGGGGGGGACCTGCTCATGCTGGGG TCTGCAGGGGGACTGGGTGGGGGAGACCTGCCGGTGCCGGGGTCTGCAGG GGGACTCGGGGGGGACCTGCCCATGCCGGGGTCTGCAGGGGGACTGGGGG GG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		666		chr13	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(231): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAATAGTGTATATTCTATTGTACATTCTATTGTACAAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAATAGTGTATATTCTATTGTACATTCTATTGTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 others(3): Show HG02647.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	6	368	0.0163	238	c.-13 others(249): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGTA CAAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGTA CAAT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTC others(231): Show ATTTCTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTCTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	280	0.0036	238	c.3+2 others(253): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAGAGAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAA AGAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505286	C C	CTCCTCTC others(231): Show CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0151 a0001c0001t0008g0151	1	396	0.0025	238	c.-73 others(247): Show c.-739_-738insTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCC TCTCCCTCTCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCT CCCTCTCCCTCTCCCTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCC TA	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		250		chr14	TogoVar
RNF17_chr13_24759169_24884921	24881964	A A	ATATATAG others(231): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0089 a0003c0006t0001g0089	1	426	0.0024	238	c.22 others(249): Show c.2238_*2239insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2044		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(231): Show CTATATAGATACATCTATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	426	0.0024	238	c.22 others(249): Show c.2254_*2255insTATATAGATACATCTATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RNF213_chr17_80255852_80403794	80274584	C C	CTGTGGGG others(231): Show CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGG AGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGT GTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02074.hp1 others(15): Show HG00423.hp1 HG00597.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG03139.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA19010.hp1 NA19065.hp2 NA19066.hp1 NA19081.hp2 NA19087.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0043 a0061 a0062	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0125 a0002c0002 a0002c0010 a0002c0027 a0002c0060 a0002c0121 a0007c0008 a0043c0101 a0061c0122 a0062c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0075 a0001c0003t0002 a0001c0004t0004 a0001c0004t0071 a0001c0125t0011 a0002c0002t0005 a0002c0010t0004 a0002c0027t0007 a0002c0060t0005 a0002c0121t0004 a0007c0008t0008 a0043c0101t0003 a0061c0122t0004 a0062c0055t0005	a0001c0001t0001g0288 a0001c0001t0002g0070 a0001c0001t0029g0079 others(15): Show a0001c0001t0001g0288 a0001c0001t0002g0070 a0001c0001t0029g0079 a0001c0001t0075g0287 a0001c0003t0002g0072 a0001c0004t0004g0074 a0001c0004t0071g0066 a0001c0125t0011g0071 a0002c0002t0005g0073 a0002c0010t0004g0077 a0002c0027t0007g0064 a0002c0060t0005g0065 a0002c0121t0004g0067 a0007c0008t0008g0078 a0007c0008t0008g0286 a0043c0101t0003g0061 a0061c0122t0004g0075 a0062c0055t0005g0076	18	292	0.0616	238	c.261 others(255): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076121	T T	TGGGGACT others(231): Show TGGGGACTCCGTGGGGCAGGCTGAGGCTACGGTGACTCCGTGCAGGGCTG TGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGT GGGGGGTGGCTGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19007.hp1 NA19068.hp1 others(1): Show NA19005.hp1 NA19007.hp1 NA19068.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	4	324	0.0124	238	c.-21 others(249): Show c.-2116_-2115insGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGTAG CCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGA GTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAGCCTCAGCCAC CCCCCACGGAGTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAG CCTCACAGCCCTGCACGGAGTCACCGTAGCCTCAGCCTGCCCCACGGAGT CCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1816		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076121	T T	TGGGGACT others(231): Show TGGGGACTCCGTGGGGCAGGCTGAGGCTACGGTGACTCCGTGCAGGGCTG TGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGT GGGGGGTGGCTGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	238	c.-21 others(249): Show c.-2116_-2115insGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAG CCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGA GTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAGCCTCAGCCAC CCCCCACGGAGTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAG CCTCACAGCCCTGCACGGAGTCACCGTAGCCTCAGCCTGCCCCACGGAGT CCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1816		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076121	T T	TGGGGACT others(231): Show TGGGGACTCTGTGGGGCAGGCTGAGGCTACGGTGACTCCGTGCAGGGCTG TGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGT GGGGGGTGGCTGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTAGGGGGAGGCTGAGGCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	324	0.0031	238	c.-21 others(249): Show c.-2116_-2115insGTAGCCTCAGCCTCCCCCTACGGAGTCCCCGTAG CCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGA GTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAGCCTCAGCCAC CCCCCACGGAGTCCCCGTAGCCTCAGCCACCCCCCACGGAGTCCCCGTAG CCTCACAGCCCTGCACGGAGTCACCGTAGCCTCAGCCTGCCCCACAGAGT CCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1816		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076911	G G	GGAGGCTG others(231): Show GGAGGCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGA CTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCG GGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGA CTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	238	c.-29 others(249): Show c.-2906_-2905insGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCA TGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCC ATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCTCA CGGAGTCCCCATAGACTCAGCCTCCCCGCACGGAGTCCCCGTAGACTCAG CCTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2606		chr1	TogoVar
RPA2_chr1_27886524_27919575	27917004	T T	TTCCTTCC others(231): Show TTCCTTCCTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCC TCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCTTCC TTCCTTCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	364	0.0028	238	c.-25 others(249): Show c.-2562_-2561insGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGA AGGAAGGAAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGGAGG AAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGA AGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAGGA AGGA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2430		chr1	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(231): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	238	c.-37 others(249): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
RPS6KA5_chr14_90842861_91065641	91046781	T T	TAAAATTA others(231): Show TAAAATTAAAAGTGCTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGCCTCA AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG01891.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0135 a0001c0001t0133 a0001c0001t0135	a0001c0001t0133g0206 a0001c0001t0135g0207 a0001c0001t0133g0206 a0001c0001t0135g0207	2	306	0.0065	238	c.103 others(257): Show c.103+13550_103+13551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTCTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAGC ACTTTTAATTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RSU1_chr10_16585611_16822424	16645892	A A	ATATACGT others(231): Show ATATACGTATATATACATATATGTATATATACATATATGTACATATATGT ATATATACATATATGTATATATACGTATATATATGTGTATATATACATAT ATGTATATATACGTATATACATATGTGTATATATACATATATGTATATAT ACGTATATACATATATGTATATATACATATATGTATATATACATATATAC ATATATGTATATATACATATATGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0130 a0001c0002t0006g0130	1	190	0.0053	238	c.731 others(257): Show c.731+49130_731+49131insCATATATGTATATATACATATATGTA TATATACATATATGTATATATGTATATATACATATATGTATATATACATA TATGTATATACGTATATATACATATATGTATATATACACATATGTATATA CGTATATATACATATATGTATATATACACATATATATACGTATATATACA TATATGTATATATACATATATGTACATATATGTATATATACATATATGTA TATATACGTATA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(231): Show GGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGGGAGGGA GGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGGGGAGGAGGGA GGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAG GAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19240.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	2	396	0.0051	238	c.807 others(255): Show c.807-1376_807-1375insTTCTCCTTCTCCTCCTCCTCCTTCTCCT CCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTC TTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCT CCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTCC CTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUNX1_chr21_34782801_35054302	34849424	G G	GTATATAT others(231): Show GTATATATACTATATAATATAGTATATATACTATATATAATATATAGTAT ATATAATATATTATATATAGTATATATTATATATAGTATAATATATAATA TATATTATATATAGTATAATATATAATATATATTATATATAGTATATATA ATATATTATATATAGTATAATATATAATATATAGTATATATATAGTATAT ATATAATATATTATATATAGTATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	170	0.0059	238	c.613 others(257): Show c.613+10049_613+10050insATATATATTATATATTATACTATATA TAATATATTATATATATACTATATATATACTATATATTATATATTATACT ATATATAATATATTATATATACTATATATAATATATATTATATATTATAC TATATATAATATATATTATATATTATACTATATATAATATATACTATATA TAATATATTATATATACTATATATTATATATAGTATATATACTATATTAT ATAGTATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar

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