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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDGFA_chr7_492258_524846	511328	A A	ACTGGGGG others(176): Show ACTGGGGGTGGCAGGGGCAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGG CTGGAGGGGCAGAGGGGAACCTAGTCCAGGTGGGGCCAGAGGCTGGGGGT GGCGGGGGGAAGGGGAACTTAGTCCAGGTGCGGCCAGTGGCTGGGGGTGG GGAGAGGGGAACTTAGTCCAGGTGCGGCCAGTGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0259 a0001c0001t0107g0259	1	302	0.0033	183	c.266 others(198): Show c.266-333_266-332insCCACTGGCCGCACCTGGACTAAGTTCCCCT CTCCCCACCCCCAGCCACTGGCCGCACCTGGACTAAGTTCCCCTTCCCCC CGCCACCCCCAGCCTCTGGCCCCACCTGGACTAGGTTCCCCTCTGCCCCT CCAGCCACTGGCCGCACCTGGACTAAGTTCCCCTCTGCCCCTGCCACCCC CAG		PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5						chr7	TogoVar
PDXK_chr21_43714129_43767299	43741176	C C	CGGGGGGC others(176): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0074 a0001c0002t0028g0074	1	358	0.0028	183	c.143 others(198): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(176): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	306	0.0033	183	c.349 others(202): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(176): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	306	0.0033	183	c.349 others(202): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(176): Show GCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCTC CCTCTCCGGTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0048 a0004c0006t0002g0048	1	134	0.0075	183	c.575 others(204): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGT ACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAG		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKP3_chr11_389209_409908	400995	G G	GCCCCGCT others(176): Show GCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACC CCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCT CACCCCGGACCCCGCTCACCCCCGCCCCGCTCACACCCGACCCCGCTCAC ACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0001 a0017c0040t0001	a0017c0040t0001g0163 a0017c0040t0001g0163	1	216	0.0046	183	c.173 others(200): Show c.1737+290_1737+291insCCCCGCTCACCCCGGACCCCGCTCACCC CCGCCCCGCTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGC CCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCG CTCACACCCGACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCA CCCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PLCH1_chr3_155474881_155750071	155667902	T T	TAAAAAAA others(176): Show TAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGAGTGGT GGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGATAATTG CTTGAACCCAGGAGGCAGAGCTTGCAATGAGCCAAGTTTGCACCACTGCA CTCCAGCCTGGGTGACAGAGCAAGACTCCATCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01346.hp1 others(8): Show HG00408.hp1 HG01074.hp1 HG01346.hp1 HG01891.hp2 HG01928.hp1 HG02056.hp2 HG02071.hp2 HG02723.hp1 HG02735.hp1 HG03927.hp1 NA18970.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0011 a0001c0002 a0001c0003 a0005c0011	a0001c0002t0001 a0001c0003t0001 a0005c0011t0001 a0001c0002t0001 a0001c0003t0001 a0005c0011t0001	a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0003t0001g0106 others(8): Show a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0003t0001g0106 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0001g0114 a0001c0003t0001g0155 a0001c0003t0001g0200 a0001c0003t0001g0232 a0001c0003t0001g0254 a0005c0011t0001g0113	11	264	0.0417	183	c.79+ others(200): Show c.79+36243_79+36244insGAGATGGAGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTGCAAACTTGGCTCATTGCAAGCTCTGCCTCCTGGG TTCAAGCAATTATCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCA CACGCCACCACTCCTGGCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTT TTTTT		PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22						chr3	TogoVar
PLCXD1_chrX_276381_308356	280844	C C	CCGTGCAG others(176): Show CCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAG GCCGTGCAGGAGGAGGGGGAGGCCCGTGCAGGGGGAAGGGAGGCCGTGCA GGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	176	0.0057	183	c.-86 others(192): Show c.-862_-861insCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGC AGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGGAGGCCCGTGCAGGGGGAA GGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					536		chrX	TogoVar
PLEKHN1_chr1_961482_980865	977276	C C	CGCTCCCC others(176): Show CGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGG GAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCC CAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTC CCACGACCCCCAATCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0099 a0003c0003t0011g0099	1	422	0.0024	183	c.27 others(194): Show c.2701_*2702insGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCC ACCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACC GCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAAC CCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACT		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1412		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977285	C C	CCCCGGGA others(176): Show CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	422	0.0024	183	c.27 others(194): Show c.2710_*2711insCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1421		chr1	TogoVar
PNPLA1_chr6_36265060_36318955	36275961	T T	TTTCTTTC others(176): Show TTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0374 a0003c0007t0001g0374	1	386	0.0026	183	c.205 others(200): Show c.205+5307_205+5308insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTT		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PRB2_chr12_11386540_11400567	11393682	A A	AGGACCTT others(176): Show AGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTC CTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCT TGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGG GGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 NA18943.hp1 NA18944.hp2 others(10): Show HG00423.hp1 NA18943.hp1 NA18944.hp2 NA18955.hp1 NA18962.hp1 NA18975.hp1 NA18986.hp2 NA18999.hp1 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19077.hp2 NA19084.hp2	a0004 a0004	a0004c0005 a0004c0029 a0004c0005 a0004c0029	a0004c0005t0001 a0004c0029t0001 a0004c0005t0001 a0004c0029t0001	a0004c0005t0001g0006 a0004c0029t0001g0067 a0004c0005t0001g0006 a0004c0029t0001g0067	13	410	0.0317	183	c.213 others(190): Show c.213_395dupCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCAC AAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGA CCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCTCCTCCAGGAAA GCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCC	p.Pro others(196): Show p.Pro132_Pro133insProProProProGlyLysProGlnGlyProPr oProGlnGlyGlyAsnLysProGlnGlyProProProProGlyLysProG lnGlyProProProGlnGlyAspLysSerArgSerProArgSerProPro GlyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyPr o	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	433/1431	395/1251	132/416			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3215366	G G	GGGATCCA others(176): Show GGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAG GCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGT CCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGA GGGTCATGGGTCCCGGGGACAGGCAAGGCCCACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0045 a0002c0007t0002g0045	1	210	0.0048	183	c.388 others(202): Show c.388-28719_388-28718insATCCAGGAGAACAGGGCCTCCAGGAG GGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGG GCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCC AGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGC CCACAGG		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(176): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCT GGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGG TCATGGGTCCCGGGGACAGGCAAGGCCCACAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02738.hp2 HG02886.hp1 others(3): Show HG02572.hp2 HG02738.hp2 HG02886.hp1 HG03130.hp2 HG03453.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0010c0023	a0001c0001t0001 a0001c0001t0046 a0001c0001t0087 others(3): Show a0001c0001t0001 a0001c0001t0046 a0001c0001t0087 a0001c0004t0004 a0001c0006t0024 a0010c0023t0025	a0001c0001t0001g0096 a0001c0001t0046g0042 a0001c0001t0087g0062 others(3): Show a0001c0001t0001g0096 a0001c0001t0046g0042 a0001c0001t0087g0062 a0001c0004t0004g0051 a0001c0006t0024g0026 a0010c0023t0025g0007	6	210	0.0286	183	c.388 others(202): Show c.388-28664_388-28663insCACAGGATCCAGGAGAACAGGGCCTC CAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCAGGAG AACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACA GGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGG CAAGGCC		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3299970	C C	CATGATGT others(176): Show CATGATGTTTCCGATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGC TATGCTGTGGCTGTGATGTTTCAGATCCCAGTCGTGGTGACTCTGCCCTT GTTGAAGATGCTATGCTGTGGCCGTGATGTTTCCAATCCCAGTCGTGGTG ACTCTGCCCTGGTTGAAGATGCCGTGCTGTGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02622.hp1 others(2): Show HG01109.hp1 HG01884.hp2 HG02622.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0017 a0001c0001 a0001c0008 a0001c0017	a0001c0001t0001 a0001c0001t0004 a0001c0008t0040 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0040 a0001c0017t0054	a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0004g0046 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0125 a0001c0001t0004g0046 a0001c0008t0040g0021 a0001c0017t0054g0134	5	210	0.0238	183	c.438 others(202): Show c.438+55833_438+55834insATGATGTTTCCGATCCCAGTCGTGGT GACTCTGCCCTGGTTGAAGATGCTATGCTGTGGCTGTGATGTTTCAGATC CCAGTCGTGGTGACTCTGCCCTTGTTGAAGATGCTATGCTGTGGCCGTGA TGTTTCCAATCCCAGTCGTGGTGACTCTGCCCTGGTTGAAGATGCCGTGC TGTGGCT		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16						chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676509	T T	TCCTTCCC others(176): Show TCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCC CCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCTT CCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTC CCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0261 a0004c0004t0001g0261	1	328	0.0031	183	c.845 others(200): Show c.845-1716_845-1715insCCTTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCT CTCTCCTTCCCCTTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTC CCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCC TTCCC		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2122479	G G	GTCACGGC others(176): Show GTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACA GCGATAGTTAGCATCATGGTGGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	286	0.0035	183	c.335 others(202): Show c.335-12782_335-12781insCACGGCTGTAGTTAGGGTCACGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTA GGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122632	G G	GTCATGGT others(176): Show GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	286	0.0035	183	c.335 others(202): Show c.335-12629_335-12628insCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122710	G G	GTCATGGT others(176): Show GTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	286	0.0035	183	c.335 others(202): Show c.335-12551_335-12550insCATGGTGGTAGTTAGGATCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122865	G G	GGTAGTTA others(176): Show GGTAGTTAGCGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA CGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCACGGCGGTAGTTAGGATCATGGCTGTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	286	0.0035	183	c.335 others(202): Show c.335-12395_335-12394insAGTTAGCGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGG CTGTAGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123226	G G	GGTAGTTA others(176): Show GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA CGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCATGGCTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	286	0.0035	183	c.335 others(202): Show c.335-12034_335-12033insAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCACGGCGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGG CTGTAGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123271	C C	CATGGCGG others(176): Show CATGGCGGTAGTTAGCGTCACGGTGGTGGTTAGGTTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCGTCACG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0018 a0001c0001t0002g0022	2	286	0.0070	183	c.335 others(202): Show c.335-11991_335-11990insATGGCGGTAGTTAGCGTCACGGTGGT GGTTAGGTTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CGTCACG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123271	C C	CATGGTGG others(176): Show CATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCACGGTGGTAGTTA GGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCGTCATG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0117 a0001c0003t0014g0117	1	286	0.0035	183	c.335 others(202): Show c.335-11991_335-11990insATGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCACGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CGTCATG		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123455	G G	GTCACGGC others(176): Show GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18968.hp2 NA19079.hp2 others(1): Show NA18956.hp2 NA18968.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0083	4	286	0.0140	183	c.335 others(202): Show c.335-11806_335-11805insCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCAT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(176): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	286	0.0035	183	c.335 others(202): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTA GGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN12_chr7_77532295_77645069	77533995	T T	TCCCGGAC others(176): Show TCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCAACTTCCCAGTA GGGGCGGGCCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGCGGCTG GCGGGATGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCTGGGGGCTGACGCCCCCCACCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	310	0.0032	183	c.-35 others(194): Show c.-3552_-3551insCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTC CTCAACTTCCCAGTAGGGGCGGGCCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGGCGGCTGGCGGGATGGGGGGCTGACCCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCTGGGGGCTGACGCCCCCCACCTCCCTC		PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding					3299		chr7	TogoVar
RASA3_chr13_113972783_114137623	114053015	G G	GCTGCTGA others(176): Show GCTGCTGACTGTGCTTAGAGTCCTGGCTCCTGGGGGAGAGGCCCCCGCCG CTGACTGTACTTAAAGTCCTTGCTCCCGGAGGAGAGGCCCCTGCTGCTGA CTGCCCAGCCGCCCTTGCTCCTGGGGGAGAGGACCCCTCTGCTGACTGTG CTTAGAGTCCTGGCTCCTGGGGAAGAGACCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0004g0001 a0002c0004t0004g0029	2	67	0.0299	183	c.174 others(198): Show c.174-861_174-860insAGGGGGTCTCTTCCCCAGGAGCCAGGACTC TAAGCACAGTCAGCAGAGGGGTCCTCTCCCCCAGGAGCAAGGGCGGCTGG GCAGTCAGCAGCAGGGGCCTCTCCTCCGGGAGCAAGGACTTTAAGTACAG TCAGCGGCGGGGGCCTCTCCCCCAGGAGCCAGGACTCTAAGCACAGTCAG CAG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114053109	C C	CGCTGACT others(176): Show CGCTGACTGTACTTAAAGTCCTTGCTCCCGGAGGAGAGGCCCCTGCTGCT GACTGCCCAGCCGCCCTTGCTCCTGGGGGAGAGGACCCCTCTGCTGACTG TGCTTAGAGTCCTGGCTCCTGGGGGAGAGACCCCCGCTGCTGACTGTACT TAGAGTCCTCACTACTGGGGGAGAGGCCCCCGCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp1 HG01981.hp1 others(12): Show HG01361.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02148.hp2 HG03130.hp1 HG03471.hp1 NA18945.hp2 NA18954.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0003t0003 a0001c0015t0001	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0037 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0002g0032 a0001c0001t0007g0034 a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0036 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0001c0015t0001g0042	15	67	0.2239	183	c.174 others(198): Show c.174-955_174-954insAGCGGGGGCCTCTCCCCCAGTAGTGAGGAC TCTAAGTACAGTCAGCAGCGGGGGTCTCTCCCCCAGGAGCCAGGACTCTA AGCACAGTCAGCAGAGGGGTCCTCTCCCCCAGGAGCAAGGGCGGCTGGGC AGTCAGCAGCAGGGGCCTCTCCTCCGGGAGCAAGGACTTTAAGTACAGTC AGC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGAGAGACCGGGGGGAAGGGA GACTCAGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG00639.hp2 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0003 a0006c0008t0001g0002 a0001c0001t0001g0003 a0006c0008t0001g0002	2	67	0.0299	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC TGAGTCTCCCTTCCCCCCGGTCTCTCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGAGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0004g0001 a0002c0004t0004g0029	2	67	0.0299	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCTC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCAGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0025 a0001c0002t0002g0026	2	67	0.0299	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCTGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01167.hp1 others(16): Show HG00621.hp1 HG00733.hp1 HG01167.hp1 HG01175.hp1 HG01361.hp2 HG01433.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG03130.hp1 HG03490.hp2 HG04115.hp2 NA18945.hp1 NA18954.hp2 NA18971.hp1 NA18975.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0014 a0003c0006	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0007t0002 a0001c0014t0002 a0003c0006t0002	a0001c0001t0001g0017 a0001c0001t0006g0011 a0001c0001t0006g0012 others(16): Show a0001c0001t0001g0017 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0002t0001g0058 a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030 a0001c0007t0002g0063 a0001c0014t0002g0052 a0003c0006t0002g0053	19	67	0.2836	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0010 a0002c0004t0009g0010	1	67	0.0149	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCTGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCCGGGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG02723.hp2 others(7): Show HG01943.hp1 HG01981.hp1 HG02723.hp2 HG03471.hp1 HG03471.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0015t0001	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0037 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0002g0032 a0001c0001t0007g0034 a0001c0002t0002g0036 a0001c0015t0001g0042	10	67	0.1493	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCGGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCAGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01167.hp2 others(18): Show HG00621.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01943.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18954.hp1 NA18973.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0005c0010	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0013t0008 a0005c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0002t0002g0004 a0001c0013t0008g0048 a0005c0010t0001g0007	21	67	0.3134	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCAGTCTCCCACCCCCCAGTCTCCCACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTGGGGGGTGTGAGACTGGGGGGTGGGAGACCGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0066 a0007c0011t0004g0066	1	67	0.0149	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCGGTCTCCCACCCCCCAGTCTCACACCCCCCAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114069825	C C	CAGGAGAC others(176): Show CAGGAGACTCAGGGGGCCAGGAGACTCAGGGGCCAGGAGACTCGGGGGTT GGGAGACTTGGGGGTGGGAGACTGGGGGGTGGGAGACTGGGGGGAAGGGA GACTCGGGGACTGGGAGACTCAGGGAGCCGGGAAACTGGGGGGGCCGGGA AACTGGGGGTCCAGGAGACTCGGGGGGCTGGGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	67	0.0149	183	c.173 others(200): Show c.173+3894_173+3895insCTCCCAGCCCCCCGAGTCTCCTGGACCC CCAGTTTCCCGGCCCCCCCAGTTTCCCGGCTCCCTGAGTCTCCCAGTCCC CGAGTCTCCCTTCCCCCCAGTCTCCCACCCCCCAGTCTCCCACCCCCAAG TCTCCCAACCCCCGAGTCTCCTGGCCCCTGAGTCTCCTGGCCCCCTGAGT CTCCT		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23						chr13	TogoVar
RFTN1_chr3_16310845_16518699	16404210	T T	TTATATTT others(176): Show TTATATTTTATATATATTATACATTTTATATATTTTATATATATTATACA TTTTATATATTATATATTTCATATATAATATATATAATATATATTTCATA TATAATATATAATATATATTTCATATATAATATATATTTCATATATAATA TATAATATATATTTCATATATAATATATATTTCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	268	0.0037	183	c.441 others(200): Show c.441+5164_441+5165insTGAAATATATATTATATATGAAATATAT ATTATATATTATATATGAAATATATATTATATATGAAATATATATTATAT ATTATATATGAAATATATATTATATATATTATATATGAAATATATAATAT ATAAAATGTATAATATATATAAAATATATAAAATGTATAATATATATAAA ATATA		RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9						chr3	TogoVar
RGPD4_chr2_107821892_107897544	107827711	T T	TGGCCCGG others(176): Show TGGCCCGGAGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCG GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0127 a0004c0004t0002g0127	1	374	0.0027	183	c.72+ others(196): Show c.72+633_72+634insAGGCGGCCTCGATGGCTCAGGCATCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACC TGGCCGGGCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGG GCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCG G		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827946	A A	ATCATGGC others(176): Show ATCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGC GGCCTCGACCTGGCCGGGCGGCGGCGGCCTCAATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCG ACCCGGCCCGGCGGCTGCCTCGATGGCTCAGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0029 a0029	a0029c0058 a0029c0058	a0029c0058t0023 a0029c0058t0023	a0029c0058t0023g0007 a0029c0058t0023g0007	1	374	0.0027	183	c.72+ others(196): Show c.72+890_72+891insGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTG GCCGGGCGGCGGCGGCCTCAATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGC GGCTGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT G		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130392615	C C	CGTGTGTC others(176): Show CGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGT CACCGTCATCATGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGT GATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACCGTCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	180	0.0056	183	c.47 others(194): Show c.4745_*4746insACGTGATGACGGTGACCGGGTCATCACAACATTC AATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATC ACAACATTCAATATTCACCAGGTAACTGACGGACACACATGATGACGGTG ACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACAC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding					3517		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130481098	G G	GGGGGGCA others(176): Show GGGGGGCACCCAGGCTCAGGGGGAGGGGTGTGGCCCCTCGGGAGGAGGCA GGTGGTGAGGGCGGGGGCACCCAGGCTCAGGGGGAGGGGTGTGGCCCCTC GGGAGGAGGCAGGTGGTGAGGGCGGGGGCACCCAGGCTCAGGGGGAGGGG TGTGGCCCCTCGGGAGGAGGCAGGTGGTGAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp2 HG00099.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0019 a0001c0002t0001g0021	2	180	0.0111	183	c.-3- others(198): Show c.-3-2083_-3-2082insGCCCTCACCACCTGCCTCCTCCCGAGGGGC CACACCCCTCCCCCTGAGCCTGGGTGCCCCCGCCCTCACCACCTGCCTCC TCCCGAGGGGCCACACCCCTCCCCCTGAGCCTGGGTGCCCCCGCCCTCAC CACCTGCCTCCTCCCGAGGGGCCACACCCCTCCCCCTGAGCCTGGGTGCC CCC		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22						chr12	TogoVar
RIN3_chr14_92508781_92693994	92547121	A A	ATTATTAT others(176): Show ATTATTATTATAAAATAAATTATCTTTATTTTATTATTATTATAAAATAA ATTATCTTTATTTTATTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0322 a0008c0010t0001g0322	1	334	0.0030	183	c.45- others(198): Show c.45-8617_45-8616insATAAATTATCTTTATTTTATTATTATTATA AAATAAATTATCTTTATTTTATTATTATTATAAAATAAATTATCTTTATT TTATTATTATAATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAA		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(176): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATATATAATATATTATATAATATAATAT ATAATATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	183	c.-31 others(194): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATATTATATTATATATTATAT ATTATATATTATATTATATATTATATATTATATTATATATTATATTATA		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(176): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATAT ATAATATATTATATATTATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	183	c.-31 others(194): Show c.-3139_-3138insAATATATTATATATTATAATATATAATATATTAT ATATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATATTATATTATATATTATAT ATTATATATTATATTATATATTATATATTATATTATATATTATATTATA		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(176): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATAATATATTATATAATATAAT GTATAATATATTATATAATATAATGTATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18612.hp1 HG00609.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	183	c.-31 others(194): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATATTATATTATATATTATAT ATTATATATTATATTATATATTATATATTATATTATATATTATATTATA		RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding					2967		chr7	TogoVar
RNF213_chr17_80255852_80403794	80315598	T T	TGGTGATG others(176): Show TGGTGATGGTGGTTGTGGTGGAGGTGGTGGTGGAGGTGATGGTGGTGATG GTGATGGTTGTGGAGCTGGTGGTGGAGGTGATGGTGGAGGTAATGGAGGT GATGGTGGTGGTGAAGGGGATGGTGGTGATGGAGGTGGTGGTGGTGGAGG TGACAGTGGTGATGCTGGTGGTGGAGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0063 a0063	a0063c0110 a0063c0110	a0063c0110t0064 a0063c0110t0064	a0063c0110t0064g0084 a0063c0110t0064g0084	1	292	0.0034	183	c.281 others(202): Show c.2812-1587_2812-1586insGATGGTGGTTGTGGTGGAGGTGGTGG TGGAGGTGATGGTGGTGATGGTGATGGTTGTGGAGCTGGTGGTGGAGGTG ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGGGATGGTGGTGAT GGAGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGAGGTGG TGGAGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(176): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	308	0.0033	183	c.-75 others(202): Show c.-758+6487_-758+6488insTATCTATAAACTAAATATATAAATAT ATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAA ATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AACATGT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	242693	T T	TTACCCTT others(176): Show TTACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCCTTCCTCTAC TGATTGCCCCTCTACTGATTACCCTTCCTCTATTGATTACCTTCCTCTGA TTACCTTCCTCTACTGATTACACTTCCTCTACTGATTACACTTCCTCTAT TACCTTCCTCTATTGATTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	133	0.0075	183	c.613 others(200): Show c.613+4417_613+4418insGTCAATAGAGGAAGGTAATCAATAGAGG AAGGTAATAGAGGAAGTGTAATCAGTAGAGGAAGTGTAATCAGTAGAGGA AGGTAATCAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAGTAGAGGGG CAATCAGTAGAGGAAGGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGGTA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(176): Show ATCCATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0061 a0003c0003t0061	a0003c0003t0061g0138 a0003c0003t0061g0138	1	366	0.0027	183	c.-15 others(194): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1102		chr19	TogoVar

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