Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHN1_chr1_961482_980865	977229	CCCGGGAA others(52): Show CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCTGCCCC CACCGACCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0004 a0005c0027t0004	a0005c0027t0004g0072 a0005c0027t0004g0072	1	422	0.0024	-59	c.26 others(70): Show c.2655_*2713delCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG GGAACCGCCTGCCCCCACCGACCAA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1365		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977699	GCAACCCC others(52): Show GCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTC CCACCCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02132.hp2 NA18612.hp1 others(2): Show HG00423.hp1 HG02132.hp2 NA18612.hp1 NA19087.hp1 NA19089.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0056 a0001c0001 a0004c0004 a0004c0056	a0001c0001t0003 a0004c0004t0003 a0004c0004t0012 others(1): Show a0001c0001t0003 a0004c0004t0003 a0004c0004t0012 a0004c0056t0003	a0001c0001t0003g0001 a0004c0004t0003g0016 a0004c0004t0003g0156 others(2): Show a0001c0001t0003g0001 a0004c0004t0003g0016 a0004c0004t0003g0156 a0004c0004t0012g0002 a0004c0056t0003g0016	5	422	0.0119	-59	c.31 others(70): Show c.3125_*3183delCAACCCCGGGAACCGCCTGCCCCCACCGACCAAC CCCGGGAACCGCCTCCCACCCCCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1835		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977905	GCAACCCC others(52): Show GCAACCCCGGGAACCGCCTCCCACCACCCCGCAACCCCGGGAACCGCCTG CCCCCACCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA19067.hp2 NA18906.hp2 NA19067.hp2	a0003 a0009 a0003 a0009	a0003c0019 a0009c0020 a0003c0019 a0009c0020	a0003c0019t0001 a0009c0020t0003 a0003c0019t0001 a0009c0020t0003	a0003c0019t0001g0035 a0009c0020t0003g0002 a0003c0019t0001g0035 a0009c0020t0003g0002	2	422	0.0047	-59	c.33 others(70): Show c.3331_*3389delCAACCCCGGGAACCGCCTCCCACCACCCCGCAAC CCCGGGAACCGCCTGCCCCCACCGA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2041		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977943	GGGAACCG others(52): Show GGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCAATCCC CCCAACCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01256.hp1 others(18): Show HG00140.hp2 HG00735.hp2 HG01256.hp1 HG01516.hp1 HG02074.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02818.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 NA18946.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18980.hp2 NA19070.hp1 NA19082.hp1 NA19086.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0012	a0002c0002 a0002c0017 a0002c0042 others(7): Show a0002c0002 a0002c0017 a0002c0042 a0002c0049 a0003c0005 a0003c0019 a0005c0014 a0005c0025 a0005c0027 a0012c0035	a0002c0002t0004 a0002c0002t0025 a0002c0017t0025 others(11): Show a0002c0002t0004 a0002c0002t0025 a0002c0017t0025 a0002c0042t0004 a0002c0049t0004 a0003c0005t0001 a0003c0005t0004 a0003c0005t0008 a0003c0005t0035 a0003c0019t0004 a0005c0014t0004 a0005c0025t0036 a0005c0027t0004 a0012c0035t0004	a0002c0002t0004g0135 a0002c0002t0025g0062 a0002c0017t0025g0007 others(14): Show a0002c0002t0004g0135 a0002c0002t0025g0062 a0002c0017t0025g0007 a0002c0042t0004g0003 a0002c0049t0004g0077 a0003c0005t0001g0008 a0003c0005t0001g0091 a0003c0005t0004g0052 a0003c0005t0008g0018 a0003c0005t0035g0060 a0003c0019t0004g0081 a0005c0014t0004g0030 a0005c0014t0004g0074 a0005c0014t0004g0131 a0005c0025t0036g0073 a0005c0027t0004g0031 a0012c0035t0004g0063	21	422	0.0498	-59	c.33 others(70): Show c.3369_*3427delGGAACCGCCTGCCCCCACCGACCAACCCCGGGAA CCGCCTCCCAATCCCCCCAACCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2079		chr1	TogoVar
PLIN5_chr19_4517531_4540224	4525870	TACGGGGA others(52): Show TACGGGGACAGCACGGGGACAGGATACGGGGACAGCACGGGGACAGGATA CGGGGACAGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	412	0.0024	-59	c.521 others(72): Show c.521-97_521-39delGCTGTCCCCGTATCCTGTCCCCGTGCTGTCCC CGTATCCTGTCCCCGTGCTGTCCCCGT	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	5/7			chr19	TogoVar
PLPPR3_chr19_807488_826955	815469	TGGTGCCC others(52): Show TGGTGCCCACAGGCTGGCACAGGCCCCGGTGTGGATGTTCACCGAGGTGG CAGTGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0001 a0003c0034t0001	a0003c0034t0001g0178 a0003c0034t0001g0178	1	398	0.0025	-59	c.261 others(74): Show c.261+138_262-143delGCAGCCACTGCCACCTCGGTGAACATCCAC ACCGGGGCCTGTGCCAGCCTGTGGGCACC	PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	3/7			chr19	TogoVar
PODNL1_chr19_13926187_13943417	13936730	CCCCCACA others(52): Show CCCCCACAACCGACCCCAAATGCACCATCACCCCCACAATCGACCCCAAA TTCCTCAACA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	432	0.0023	-59	c.226 others(74): Show c.226-329_226-271delTGTTGAGGAATTTGGGGTCGATTGTGGGGG TGATGGTGCATTTGGGGTCGGTTGTGGGG	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
POFUT2_chr21_45258935_45292895	45267017	TGGGACGC others(52): Show TGGGACGCTCACGGCAGCCCCACGAGAATGATCACACGAGGGCCCACGCT CCCGGCCTCG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0024 a0008c0012t0024	a0008c0012t0024g0222 a0008c0012t0024g0222	1	436	0.0023	-59	c.113 others(76): Show c.1136+514_1136+572delCGAGGCCGGGAGCGTGGGCCCTCGTGTG ATCATTCTCGTGGGGCTGCCGTGAGCGTCCC	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	8/8			chr21	TogoVar
POLE_chr12_132618762_132692342	132645253	CACCCTAG others(52): Show CACCCTAGCTCCCTGTGTGGAGGGCTGGGGGAATTCTGGAGAGGCGAGCT GGAGAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG03225.hp1 HG03453.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0026 a0006c0009 a0008c0011 a0001c0026 a0006c0009 a0008c0011	a0001c0026t0002 a0006c0009t0002 a0008c0011t0002 a0001c0026t0002 a0006c0009t0002 a0008c0011t0002	a0001c0026t0002g0025 a0006c0009t0002g0017 a0006c0009t0002g0018 others(5): Show a0001c0026t0002g0025 a0006c0009t0002g0017 a0006c0009t0002g0018 a0006c0009t0002g0019 a0006c0009t0002g0020 a0008c0011t0002g0156 a0008c0011t0002g0159 a0008c0011t0002g0160	8	292	0.0274	-59	c.415 others(78): Show c.4150-1335_4150-1277delACCCCTCTCCAGCTCGCCTCTCCAGA ATTCCCCCAGCCCTCCACACAGGGAGCTAGGGT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	32/48			chr12	TogoVar
POTEG_chr14_19397486_19439341	19434949	CGCGTGCG others(52): Show CGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCG TGCGCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02027.hp1 others(3): Show HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 NA19009.hp1 NA19066.hp2	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0030	a0001c0001 a0001c0025 a0003c0003 others(2): Show a0001c0001 a0001c0025 a0003c0003 a0014c0015 a0030c0028	a0001c0001t0001 a0001c0025t0008 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0025t0008 a0003c0003t0001 a0014c0015t0001 a0030c0028t0004	a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0025t0008g0070 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0025t0008g0070 a0003c0003t0001g0065 a0014c0015t0001g0027 a0030c0028t0004g0050	6	111	0.0541	-59	c.-71 others(68): Show c.-719_-661delCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCA CGCCGCACGCGCACGCCGCACGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		609		chr14	TogoVar
POTEG_chr14_19397486_19439341	19435001	CGCGTGCG others(52): Show CGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCG TGCGCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA21309.hp1 HG03579.hp2 NA21309.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0039 a0005c0011t0003g0040 a0005c0011t0003g0039 a0005c0011t0003g0040	2	111	0.0180	-59	c.-77 others(68): Show c.-771_-713delCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCA CGCCGCACGCGCACGCCGCACGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		661		chr14	TogoVar
PPP2R3B_chrX_328933_391907	340596	GTCCGTCC others(52): Show GTCCGTCCCCTCTCCCTGGGCCGTCCTCCCTCCCGTCCGTCCCCTCTCCC TGGGCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0003 a0008c0005t0003	a0008c0005t0003g0006 a0008c0005t0003g0006	1	25	0.0400	-59	c.135 others(76): Show c.1351+110_1351+168delTGACAGCCCAGGGAGAGGGGACGGACGG GAGGGAGGACGGCCCAGGGAGAGGGGACGGA	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	358386	GGTGGGTG others(52): Show GGTGGGTGCTCGAGCACCATGCTCTCCGCCTGCAGGGCCGGGTCGGTGCG TGCAGGCACA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01934.hp1 HG02015.hp1 others(1): Show HG01255.hp2 HG01934.hp1 HG02015.hp1 HG03209.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0005 a0002c0002 a0008c0005	a0002c0002t0002 a0002c0002t0012 a0008c0005t0003 a0002c0002t0002 a0002c0002t0012 a0008c0005t0003	a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0012g0008 others(1): Show a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0012g0008 a0008c0005t0003g0006	4	25	0.1600	-59	c.510 others(76): Show c.510+2960_510+3018delTGTGCCTGCACGCACCGACCCGGCCCTG CAGGCGGAGAGCATGGTGCTCGAGCACCCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP2R5E_chr14_63366364_63548377	63397566	AATGAAAA others(52): Show AATGAAAAAACCTGAATCAAAACAAACATCAAAATGTCTCAATGATACTG GCAATGGTCC	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0211 a0001c0001t0014g0211	1	252	0.0040	-59	c.550 others(74): Show c.550-909_550-851delGGACCATTGCCAGTATCATTGAGACATTTT GATGTTTGTTTTGATTCAGGTTTTTTCAT	PPP2R5E	ENSG00000154001.14	transcript	ENST00000337537.8	protein_coding	5/13			chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101106455	GAAAAGAA others(52): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAG AAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00735.hp2 others(16): Show HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01258.hp2 HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 a0001c0001t0031 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0002t0007 a0001c0002t0016 a0001c0002t0019 a0001c0002t0052 a0001c0003t0006 a0001c0003t0037 a0001c0003t0046	a0001c0001t0001g0131 a0001c0001t0002g0027 a0001c0001t0002g0050 others(16): Show a0001c0001t0001g0131 a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0001t0015g0005 a0001c0001t0027g0002 a0001c0001t0031g0006 a0001c0001t0067g0179 a0001c0001t0070g0143 a0001c0001t0072g0190 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0016g0017 a0001c0002t0019g0096 a0001c0002t0019g0097 a0001c0002t0052g0090 a0001c0003t0006g0016 a0001c0003t0006g0018 a0001c0003t0037g0021 a0001c0003t0046g0015	19	192	0.0990	-59	c.384 others(76): Show c.384+2440_384+2498delTTCTTTCTTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50344536	CCCCCTCC others(52): Show CCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCC CCAGTCAGTG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0073 a0001c0002t0039g0073	1	340	0.0029	-59	c.-14 others(77): Show c.-148+991_-148+1049delTCCAGTCAATTCCCCCCAGTCAGTGCC TCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50405556	GGTGAGAG others(52): Show GGTGAGAGGCCTGGCAGGCGAGTGTGAAGGCCTGGAGAGAGGTGAGAGGC CTGGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18942.hp2 NA19064.hp1 others(1): Show HG00423.hp2 NA18942.hp2 NA19064.hp1 NA19090.hp1	a0004 a0008 a0004 a0008	a0004c0009 a0008c0012 a0004c0009 a0008c0012	a0004c0009t0030 a0008c0012t0020 a0004c0009t0030 a0008c0012t0020	a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 others(1): Show a0004c0009t0030g0041 a0008c0012t0020g0043 a0008c0012t0020g0078 a0008c0012t0020g0079	4	340	0.0118	-59	c.228 others(75): Show c.228-1015_228-957delAGTGAGAGGCCTGGCAGGCGAGTGTGAAG GCCTGGAGAGAGGTGAGAGGCCTGGAGAGA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPTC7_chr12_110528245_110588318	110564757	CATATATA others(52): Show CATATATATACACGTATATATATACATACACGTTATATATATATACACGT ATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG00738.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0001t0012g0024 a0001c0001t0012g0025	2	328	0.0061	-59	c.224 others(78): Show c.224-12848_224-12790delATATACATATACGTGTATATATATAT AACGTGTATGTATATATATACGTGTATATATAT	PPTC7	ENSG00000196850.6	transcript	ENST00000354300.5	protein_coding	1/5			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3326030	TCCTTGGC others(52): Show TCCTTGGCCATCCTCGGCCCTCTTGGCCCCCCTTGGCCATCCTCGACCAT CCTTGGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(80): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0022 a0001c0025 a0001c0029 a0001c0031 a0002c0003 a0002c0007 a0002c0015 a0002c0030 a0003c0005 a0003c0011 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0070 a0001c0001t0072 a0001c0001t0082 a0001c0001t0083 a0001c0001t0087 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0036 a0001c0002t0071 a0001c0002t0084 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0029 a0001c0004t0055 a0001c0004t0073 a0001c0006t0011 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039 a0001c0008t0001 a0001c0008t0002 a0001c0008t0040 a0001c0008t0085 a0001c0012t0009 a0001c0013t0001 a0001c0016t0020 a0001c0017t0054 a0001c0022t0057 a0001c0025t0044 a0001c0029t0065 a0001c0031t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0029 a0002c0003t0059 a0002c0007t0001 a0002c0007t0002 a0002c0007t0024 a0002c0015t0014 a0002c0030t0047 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009 a0003c0011t0001 a0006c0023t0025	a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0125 others(80): Show a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0001g0189 a0001c0001t0002g0011 a0001c0001t0004g0046 a0001c0001t0008g0097 a0001c0001t0011g0022 a0001c0001t0011g0047 a0001c0001t0012g0041 a0001c0001t0013g0002 a0001c0001t0014g0069 a0001c0001t0019g0101 a0001c0001t0020g0105 a0001c0001t0022g0040 a0001c0001t0022g0061 a0001c0001t0023g0072 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0042g0124 a0001c0001t0045g0024 a0001c0001t0046g0042 a0001c0001t0070g0100 a0001c0001t0072g0008 a0001c0001t0082g0067 a0001c0001t0083g0027 a0001c0001t0087g0062 a0001c0002t0001g0019 a0001c0002t0001g0080 a0001c0002t0002g0091 a0001c0002t0002g0135 a0001c0002t0003g0120 a0001c0002t0036g0157 a0001c0002t0071g0099 a0001c0002t0084g0138 a0001c0004t0004g0051 a0001c0004t0007g0063 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0034 a0001c0004t0010g0174 a0001c0004t0025g0205 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0004t0073g0143 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0008t0040g0021 a0001c0008t0085g0003 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0013t0001g0104 a0001c0016t0020g0108 a0001c0017t0054g0134 a0001c0022t0057g0139 a0001c0025t0044g0109 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0001g0142 a0002c0003t0004g0048 a0002c0003t0004g0123 a0002c0003t0007g0103 a0002c0003t0009g0078 a0002c0003t0029g0106 a0002c0003t0059g0037 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0024g0070 a0002c0015t0014g0073 a0002c0030t0047g0206 a0003c0005t0001g0171 a0003c0005t0001g0172 a0003c0005t0006g0053 a0003c0005t0009g0010 a0003c0011t0001g0056 a0003c0011t0001g0057 a0003c0011t0001g0185 a0006c0023t0025g0007	83	210	0.3952	-59	c.439 others(78): Show c.439-59106_439-59048delGCCCTCTTGGCCCCCCTTGGCCATCC TCGACCATCCTTGGCCCCCCTTGGCCATCCTCG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855364	CCTCCACA others(52): Show CCTCCACACACACCGCCCTCCACACACACCATCCACACACCACCCTCCAC ATACACCATG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	252	0.0040	-59	c.114 others(78): Show c.114+21084_114+21142delCATGGTGTATGTGGAGGGTGGTGTGT GGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCE_chr2_45646675_46192990	45744441	CTTTCTTT others(52): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	168	0.0060	-59	c.348 others(78): Show c.348+92021_348+92079delCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKN_chr6_161342417_162732766	161552393	CACCTATG others(52): Show CACCTATGACTGTGAATGATCTCACGGTGATCCTCCAAGCCTCTCTCCCT CAGCTCTGTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01884.hp1 others(9): Show HG01192.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG02602.hp1 HG02602.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0002c0002t0004 a0002c0002t0009 a0002c0007t0013 a0003c0005t0002	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0002g0007 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0006g0003 a0001c0001t0008g0010 a0001c0003t0001g0032 a0001c0003t0003g0027 a0001c0004t0001g0001 a0002c0002t0004g0019 a0002c0002t0009g0008 a0002c0007t0013g0018 a0003c0005t0002g0026	12	32	0.3750	-59	c.934 others(76): Show c.934-3449_934-3391delAACAGAGCTGAGGGAGAGAGGCTTGGAG GATCACCGTGAGATCATTCACAGTCATAGGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	8/11			chr6	TogoVar
PRPF6_chr20_63976132_64038100	64011752	ATTTCTTT others(52): Show ATTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTC TCATGGCTTC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	294	0.0034	-59	c.152 others(76): Show c.1524+302_1524+360delTGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCA	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64011805	TGGCTTCT others(52): Show TGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	-59	c.152 others(78): Show c.1524+1016_1524+1074delCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012805	CGGCTTCT others(52): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02738.hp2 others(7): Show HG02451.hp2 HG02622.hp2 HG02738.hp2 HG03453.hp2 HG03486.hp2 HG03927.hp2 HG03942.hp2 NA19043.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0004t0005	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0281 others(7): Show a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0281 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0006g0052 a0001c0001t0006g0219 a0001c0004t0005g0248	10	294	0.0340	-59	c.152 others(78): Show c.1524+1371_1524+1429delCTTTGCTAGTAGAAATGATACACCTA CGAGAGGAGGACAGGAAGTCTCATGGCTTCTTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTBP1_chr19_792452_817312	815469	TGGTGCCC others(52): Show TGGTGCCCACAGGCTGGCACAGGCCCCGGTGTGGATGTTCACCGAGGTGG CAGTGGCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0069 a0001c0003t0012g0069	1	388	0.0026	-59	c.46 others(70): Show c.4644_*4702delGGTGCCCACAGGCTGGCACAGGCCCCGGTGTGGA TGTTCACCGAGGTGGCAGTGGCTGC	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		3158		chr19	TogoVar
PTGER4_chr5_40674915_40698735	40697056	GAAAGAAA others(52): Show GAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAGAAAAGAAAG AAAGGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	406	0.0025	-59	c.46 others(70): Show c.4679_*4737delAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAAG AAAGAGAAAAGAAAGAAAGGAAAGA	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3322		chr5	TogoVar
PTPRM_chr18_7562316_8411856	7909700	TCATTTGC others(52): Show TCATTTGCTCCACTGTAAAGGCTCTTGTTTGGATTCATATAGGTTTATGA GTAAGCATTA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0035 a0001c0012t0002g0035	1	80	0.0125	-59	c.547 others(76): Show c.547+3120_547+3178delTTTGCTCCACTGTAAAGGCTCTTGTTTG GATTCATATAGGTTTATGAGTAAGCATTACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PUS3_chr11_125888485_125908206	125907789	GAAAATTA others(52): Show GAAAATTACTGTTAAAAATGTCAATATCGTTCGTGAAAAGGAACAAAACA GTAAATGTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	450	0.0022	-59	c.-47 others(70): Show c.-4725_-4667delTGACATTTACTGTTTTGTTCCTTTTCACGAACGA TATTGACATTTTTAACAGTAATTTT	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding		4584		chr11	TogoVar
PYCR1_chr17_81927391_81942300	81929984	CCTTCTGT others(52): Show CCTTCTGTGGGACTGAGCCCCGCAGGCACTTCCCCGGCATCCTCCCGCCC CAGGCTGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	376	0.0027	-59	c.31 others(70): Show c.3171_*3229delCTGCAGCCTGGGGCGGGAGGATGCCGGGGAAGTG CCTGCGGGGCTCAGTCCCACAGAAG	PYCR1	ENSG00000183010.17	transcript	ENST00000329875.13	protein_coding		2406		chr17	TogoVar
RAB22A_chr20_58304715_58372507	58309561	GGGGCCCT others(52): Show GGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGACAGGGGCGGGGCCCTGC AGACAGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0255 a0001c0001t0122g0255	1	394	0.0025	-59	c.-41 others(68): Show c.-415_-357delGGGCCCTGCAGACAGGGGCGGGGCCCTGCAGACAGG GGCGGGGCCCTGCAGACAGGGGC	RAB22A	ENSG00000124209.4	transcript	ENST00000244040.4	protein_coding		153		chr20	TogoVar
RAD21L1_chr20_1221044_1260876	1259219	GATCTTCC others(52): Show GATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGCTTCTTGGTAA CTGATTTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01993.hp1 others(13): Show HG01081.hp1 HG01175.hp1 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03486.hp1 NA18522.hp1 NA19030.hp2 NA19054.hp1 NA20300.hp1 NA20752.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0007 a0003c0004t0001 a0003c0004t0003 others(1): Show a0002c0002t0007 a0003c0004t0001 a0003c0004t0003 a0003c0004t0006	a0002c0002t0007g0033 a0003c0004t0001g0091 a0003c0004t0003g0034 others(9): Show a0002c0002t0007g0033 a0003c0004t0001g0091 a0003c0004t0003g0034 a0003c0004t0003g0090 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0006g0026 a0003c0004t0006g0089 a0003c0004t0006g0099 a0003c0004t0006g0154 a0003c0004t0006g0156 a0003c0004t0006g0157	16	364	0.0440	-59	c.47 others(70): Show c.4763_*4821delATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGCTTCTTGGTAACTGATTTGGT	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3344		chr20	TogoVar
RAP1GAP2_chr17_2791438_3042741	2830573	GCGTGGTG others(52): Show GCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGG AGAATCGCTT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	218	0.0046	-59	c.80+ others(76): Show c.80+30024_80+30082delCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCAGGAAGCTGAGGCAGGAGAATCGCTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3014132	AGCGTGTG others(52): Show AGCGTGTGGCTGCCAGCACAGACCTGGATGGTCTAGCCTAGGACACACGT TGGCTATAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(117): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18945.hp2 NA18951.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0019 a0001c0022 a0001c0025 a0002c0003 a0002c0011 a0002c0012 a0002c0021 a0003c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(102): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0038 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0070 a0001c0001t0077 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0021 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0033 a0001c0002t0044 a0001c0002t0054 a0001c0002t0071 a0001c0002t0076 a0001c0002t0079 a0001c0002t0083 a0001c0002t0085 a0001c0002t0090 a0001c0002t0094 a0001c0002t0104 a0001c0002t0106 a0001c0002t0109 a0001c0002t0115 a0001c0002t0116 a0001c0002t0119 a0001c0002t0121 a0001c0002t0133 a0001c0002t0135 a0001c0002t0138 a0001c0004t0016 a0001c0004t0017 a0001c0004t0041 a0001c0004t0042 a0001c0005t0030 a0001c0005t0039 a0001c0005t0047 a0001c0005t0127 a0001c0007t0001 a0001c0007t0002 a0001c0007t0006 a0001c0007t0012 a0001c0007t0026 a0001c0007t0040 a0001c0007t0043 a0001c0007t0048 a0001c0007t0086 a0001c0009t0137 a0001c0010t0016 a0001c0010t0017 a0001c0010t0056 a0001c0010t0057 a0001c0019t0068 a0001c0022t0033 a0001c0025t0058 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0012 a0002c0003t0024 a0002c0003t0052 a0002c0003t0060 a0002c0003t0065 a0002c0003t0069 a0002c0003t0072 a0002c0003t0107 a0002c0003t0108 a0002c0003t0126 a0002c0003t0129 a0002c0003t0131 a0002c0003t0136 a0002c0011t0002 a0002c0011t0007 a0002c0011t0028 a0002c0011t0031 a0002c0011t0095 a0002c0012t0003 a0002c0012t0046 a0002c0021t0001 a0003c0014t0009 a0003c0014t0025 a0003c0014t0102	a0001c0001t0002g0189 a0001c0001t0003g0091 a0001c0001t0003g0097 others(117): Show a0001c0001t0002g0189 a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0159 a0001c0001t0003g0197 a0001c0001t0008g0086 a0001c0001t0009g0004 a0001c0001t0019g0043 a0001c0001t0025g0070 a0001c0001t0026g0188 a0001c0001t0029g0082 a0001c0001t0038g0190 a0001c0001t0049g0202 a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0001t0070g0057 a0001c0001t0077g0006 a0001c0001t0097g0095 a0001c0001t0098g0051 a0001c0001t0099g0154 a0001c0002t0001g0019 a0001c0002t0001g0046 a0001c0002t0001g0211 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0163 a0001c0002t0003g0144 a0001c0002t0004g0169 a0001c0002t0005g0157 a0001c0002t0007g0187 a0001c0002t0008g0029 a0001c0002t0010g0149 a0001c0002t0012g0100 a0001c0002t0013g0125 a0001c0002t0013g0204 a0001c0002t0021g0176 a0001c0002t0028g0060 a0001c0002t0029g0056 a0001c0002t0030g0066 a0001c0002t0032g0209 a0001c0002t0033g0063 a0001c0002t0044g0185 a0001c0002t0054g0055 a0001c0002t0071g0156 a0001c0002t0076g0088 a0001c0002t0079g0030 a0001c0002t0083g0079 a0001c0002t0085g0026 a0001c0002t0090g0168 a0001c0002t0094g0114 a0001c0002t0104g0080 a0001c0002t0106g0160 a0001c0002t0109g0130 a0001c0002t0115g0137 a0001c0002t0116g0214 a0001c0002t0119g0206 a0001c0002t0121g0118 a0001c0002t0133g0109 a0001c0002t0135g0152 a0001c0002t0138g0044 a0001c0004t0016g0011 a0001c0004t0017g0002 a0001c0004t0041g0201 a0001c0004t0042g0084 a0001c0005t0030g0196 a0001c0005t0039g0001 a0001c0005t0047g0008 a0001c0005t0127g0072 a0001c0007t0001g0108 a0001c0007t0002g0124 a0001c0007t0006g0039 a0001c0007t0012g0177 a0001c0007t0026g0161 a0001c0007t0040g0015 a0001c0007t0043g0126 a0001c0007t0048g0101 a0001c0007t0086g0012 a0001c0009t0137g0016 a0001c0010t0016g0089 a0001c0010t0017g0003 a0001c0010t0056g0018 a0001c0010t0057g0090 a0001c0019t0068g0050 a0001c0022t0033g0175 a0001c0025t0058g0007 a0002c0003t0001g0146 a0002c0003t0001g0172 a0002c0003t0001g0192 a0002c0003t0004g0184 a0002c0003t0004g0186 a0002c0003t0004g0203 a0002c0003t0006g0099 a0002c0003t0006g0217 a0002c0003t0006g0218 a0002c0003t0007g0041 a0002c0003t0012g0073 a0002c0003t0024g0179 a0002c0003t0024g0183 a0002c0003t0052g0213 a0002c0003t0060g0170 a0002c0003t0065g0110 a0002c0003t0069g0020 a0002c0003t0072g0021 a0002c0003t0107g0068 a0002c0003t0108g0102 a0002c0003t0126g0171 a0002c0003t0129g0054 a0002c0003t0131g0131 a0002c0003t0136g0128 a0002c0011t0002g0017 a0002c0011t0007g0148 a0002c0011t0028g0129 a0002c0011t0031g0113 a0002c0011t0095g0059 a0002c0012t0003g0078 a0002c0012t0046g0093 a0002c0021t0001g0098 a0003c0014t0009g0142 a0003c0014t0025g0074 a0003c0014t0102g0143	120	218	0.5505	-59	c.149 others(78): Show c.1495-3925_1495-3867delTGTGGCTGCCAGCACAGACCTGGATG GTCTAGCCTAGGACACACGTTGGCTATAGGGCG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA2_chr3_141482027_141620344	141610408	ATATTTAT others(52): Show ATATTTATATTTATATATTATATATTTATATTTATATATTATATATTTAT ATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02622.hp2 HG02055.hp1 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090	3	280	0.0107	-59	c.251 others(76): Show c.2519+346_2519+404delTTATATTTATATATTATATATTTATATT TATATATTATATATTTATATTTATATATTAT	RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114007926	CCCTGACT others(52): Show CCCTGACTGTGGGGAGGAGCAGAGCCCTGGGGCCTGGAGGTTGCCCCCAC GCACCGCGTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02257.hp2 others(4): Show HG00639.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02723.hp2 HG03209.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0004 a0002c0004t0009 a0001c0001t0001 a0002c0004t0004 a0002c0004t0009	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0002c0004t0004g0001 a0002c0004t0004g0029 a0002c0004t0009g0010	7	67	0.1045	-59	c.166 others(76): Show c.1669-379_1669-321delAACGCGGTGCGTGGGGGCAACCTCCAGG CCCCAGGGCTCTGCTCCTCCCCACAGTCAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar
RDH16_chr12_56946431_56962608	56948884	TCTGGCCC others(52): Show TCTGGCCCAGGGTCTGTCTAGAAATGTCATATGGGAGCTAGGGATTGAAA TGAGGGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	376	0.0027	-59	c.30 others(70): Show c.3086_*3144delGAGGCCCTCATTTCAATCCCTAGCTCCCATATGA CATTTCTAGACAGACCCTGGGCCAG	RDH16	ENSG00000139547.8	transcript	ENST00000398138.5	protein_coding		2546		chr12	TogoVar
RESF1_chr12_31954415_31998107	31995227	GATTGATT others(52): Show GATTGATTCACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0136 a0011c0012t0001g0136	1	452	0.0022	-59	c.26 others(70): Show c.2693_*2751delATTGATTCACCTCAGGTGATCTGCCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		2121		chr12	TogoVar
RGS17_chr6_152999459_153136282	153087113	TCTCTACT others(52): Show TCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCACGCTTGTA ATCCCAGCTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(143): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0034 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0002t0020 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0044 a0001c0002t0048 a0001c0003t0002 a0001c0003t0038	a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0002g0192 others(140): Show a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0002g0192 a0001c0001t0002g0296 a0001c0001t0004g0149 a0001c0001t0004g0271 a0001c0001t0007g0147 a0001c0001t0010g0273 a0001c0001t0012g0228 a0001c0001t0012g0229 a0001c0001t0012g0230 a0001c0001t0012g0232 a0001c0001t0012g0233 a0001c0001t0018g0211 a0001c0001t0034g0285 a0001c0001t0050g0231 a0001c0002t0001g0178 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0222 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0276 a0001c0002t0001g0284 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0292 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0002t0002g0003 a0001c0002t0002g0152 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0197 a0001c0002t0002g0200 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0238 a0001c0002t0002g0258 a0001c0002t0002g0294 a0001c0002t0003g0071 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0100 a0001c0002t0003g0237 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0248 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0003g0295 a0001c0002t0004g0190 a0001c0002t0004g0220 a0001c0002t0004g0304 a0001c0002t0004g0322 a0001c0002t0005g0207 a0001c0002t0005g0217 a0001c0002t0005g0227 a0001c0002t0005g0242 a0001c0002t0005g0243 a0001c0002t0005g0255 a0001c0002t0005g0278 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0185 a0001c0002t0006g0208 a0001c0002t0006g0216 a0001c0002t0006g0218 a0001c0002t0006g0219 a0001c0002t0006g0221 a0001c0002t0006g0225 a0001c0002t0008g0209 a0001c0002t0008g0293 a0001c0002t0008g0319 a0001c0002t0009g0224 a0001c0002t0011g0004 a0001c0002t0013g0186 a0001c0002t0013g0187 a0001c0002t0013g0199 a0001c0002t0018g0215 a0001c0002t0020g0247 a0001c0002t0022g0234 a0001c0002t0022g0235 a0001c0002t0024g0150 a0001c0002t0024g0226 a0001c0002t0026g0291 a0001c0002t0029g0236 a0001c0002t0031g0201 a0001c0002t0032g0254 a0001c0002t0039g0179 a0001c0002t0041g0189 a0001c0002t0042g0148 a0001c0002t0044g0198 a0001c0002t0048g0210 a0001c0003t0002g0005 a0001c0003t0002g0011 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0283 a0001c0003t0002g0300 a0001c0003t0038g0301	146	338	0.4320	-59	c.-25 others(78): Show c.-25-43129_-25-43071delTAGCTGGGATTACAAGCGTGCACCAC CACGCCCAGCTAATTTTTGTATTTTTAGTAGAG	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS22_chr8_99955936_100111049	100098847	TTATTTTA others(52): Show TTATTTTATTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp2 others(20): Show HG00099.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01517.hp1 HG01934.hp1 HG02109.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0001 a0001c0001t0001 a0002c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0002c0011t0001g0071	23	310	0.0742	-59	c.55- others(74): Show c.55-5397_55-5339delTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAATAAAATAATAAAATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	2/27			chr8	TogoVar
RNF126_chr19_642526_668214	653116	GGCCCCAC others(52): Show GGCCCCACCGTGACGGGCGTCACCAGCGTCATCAGCGCCTTGGCTGAGCC CCTCCGACCT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0352 a0001c0002t0001g0352	1	434	0.0023	-59	c.76- others(72): Show c.76-291_76-233delAGGTCGGAGGGGCTCAGCCAAGGCGCTGATGA CGCTGGTGACGCCCGTCACGGTGGGGC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	1/8			chr19	TogoVar
RNF212_chr4_1066478_1118564	1095407	TGGTCTCG others(52): Show TGGTCTCGGGATAGCGCACCTGGCTCATCACAGAACCAAGCACAACTCCC ACAGCTCCAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	406	0.0025	-59	c.246 others(76): Show c.246+1299_246+1357delGTGGAGCTGTGGGAGTTGTGCTTGGTTC TGTGATGAGCCAGGTGCGCTATCCCGAGACC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1095829	GATAGCGC others(52): Show GATAGCGCACCTGGCTCATCACAGAACCAACCACACCCCCCACAGCTCCA TGGTCTCAGC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18990.hp2 NA19057.hp2 others(1): Show NA18941.hp2 NA18990.hp2 NA19057.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0188 a0001c0001t0014g0088	4	406	0.0099	-59	c.246 others(74): Show c.246+877_246+935delGCTGAGACCATGGAGCTGTGGGGGGTGTGG TTGGTTCTGTGATGAGCCAGGTGCGCTAT	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1095923	CCTCCCAC others(52): Show CCTCCCACAGCTCCATGGTCTCGGGATAGCGCACCTGGCTCATCACAGAA CCAAGCACAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	406	0.0025	-59	c.246 others(74): Show c.246+783_246+841delTTGTGCTTGGTTCTGTGATGAGCCAGGTGC GCTATCCCGAGACCATGGAGCTGTGGGAG	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1096056	TGGTCTCG others(52): Show TGGTCTCGGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCC ACAGCTCCAC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	406	0.0025	-59	c.246 others(74): Show c.246+650_246+708delGTGGAGCTGTGGGGGGTGTGCTTGGTTCCG TGATGAGCCAGGTGCGCTATCCCGAGACC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1096272	GCACACCC others(52): Show GCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCTGGCTCATCA CGGAACCAAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01192.hp2 others(4): Show HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02258.hp2 HG02738.hp1 HG03710.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0096 a0001c0001t0005g0043 a0001c0001t0005g0047 others(4): Show a0001c0001t0001g0096 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0304 a0001c0002t0002g0305	7	406	0.0172	-59	c.246 others(74): Show c.246+434_246+492delGTTGGTTCCGTGATGAGCCAGGTGCGCTAT CCCGAGACCGTGGAGCTGTGGGGGGTGTG	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1096331	CCACACCC others(52): Show CCACACCCCCCACAGCTCCACGGTCTCGGGATAGCGCACCTGGCTCATCA CGGAACCAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(94): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0006c0007	a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0002 a0001c0002t0017 a0004c0005t0002 a0006c0007t0002	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0119 others(85): Show a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0119 a0001c0001t0001g0154 a0001c0001t0001g0181 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0010g0191 a0001c0002t0002g0002 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0060 a0001c0002t0002g0107 a0001c0002t0002g0153 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0225 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0321 a0001c0002t0002g0328 a0001c0002t0017g0361 a0004c0005t0002g0247 a0004c0005t0002g0254 a0004c0005t0002g0330 a0006c0007t0002g0233	97	406	0.2389	-59	c.246 others(74): Show c.246+375_246+433delCTTGGTTCCGTGATGAGCCAGGTGCGCTAT CCCGAGACCGTGGAGCTGTGGGGGGTGTG	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RNF212_chr4_1066478_1118564	1096476	GGGATAGC others(52): Show GGGATAGCGCACCTGGCTCATCACGGAACCAAGCACACCCCCCACAGCTC CACGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01168.hp1 others(9): Show HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01978.hp2 HG02258.hp2 HG03669.hp2 HG04184.hp1 NA18956.hp2 NA18978.hp1 NA19004.hp2 NA19009.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0096 a0001c0001t0001g0180 a0001c0002t0002g0057 others(9): Show a0001c0001t0001g0096 a0001c0001t0001g0180 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0237 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0261 a0001c0002t0002g0273 a0001c0002t0002g0284 a0001c0002t0002g0300 a0001c0002t0002g0323	12	406	0.0296	-59	c.246 others(74): Show c.246+230_246+288delTGAGACCGTGGAGCTGTGGGGGGTGTGCTT GGTTCCGTGATGAGCCAGGTGCGCTATCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	3/9			chr4	TogoVar
RPH3AL_chr17_207389_357807	322885	ACTGGACA others(52): Show ACTGGACAGTCTTATCTTCTGGTCCCGTCCCTTCCCAGATGCGAGACCTC GGATGAGGCT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0037 a0008c0013t0003g0037	1	133	0.0075	-59	c.78- others(74): Show c.78-1529_78-1471delAGCCTCATCCGAGGTCTCGCATCTGGGAAG GGACGGGACCAGAAGATAAGACTGTCCAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748332	TTGGGTGG others(52): Show TTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGG GCCTGTTGGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01070.hp1 others(22): Show HG00423.hp1 HG00544.hp2 HG01070.hp1 HG01099.hp2 HG01175.hp2 HG01258.hp1 HG02015.hp2 HG02109.hp1 HG02129.hp2 HG02895.hp1 HG03491.hp2 HG03669.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18963.hp1 NA18980.hp1 NA19009.hp1 NA19030.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19082.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0017 a0001c0019 a0001c0020 a0001c0022 a0001c0024 a0001c0026 a0001c0055 a0001c0060 a0001c0067 a0001c0075 a0001c0076 a0001c0078 a0001c0080 a0003c0069	a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 others(22): Show a0001c0001t0015 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0003t0014 a0001c0003t0038 a0001c0005t0026 a0001c0005t0067 a0001c0006t0022 a0001c0008t0021 a0001c0013t0021 a0001c0017t0015 a0001c0019t0042 a0001c0020t0048 a0001c0022t0022 a0001c0024t0037 a0001c0026t0043 a0001c0055t0049 a0001c0060t0001 a0001c0067t0068 a0001c0075t0012 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0003c0069t0044	a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 others(22): Show a0001c0001t0015g0085 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0003t0014g0102 a0001c0003t0038g0087 a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0006t0022g0090 a0001c0008t0021g0091 a0001c0013t0021g0093 a0001c0017t0015g0082 a0001c0019t0042g0089 a0001c0020t0048g0094 a0001c0022t0022g0095 a0001c0024t0037g0092 a0001c0026t0043g0096 a0001c0055t0049g0083 a0001c0060t0001g0130 a0001c0067t0068g0110 a0001c0075t0012g0127 a0001c0076t0011g0084 a0001c0078t0041g0100 a0001c0080t0011g0077 a0003c0069t0044g0099	25	196	0.1276	-59	c.655 others(76): Show c.655-5674_655-5616delGTGGATGGGGGGGCTGCGGTGTGTGTTT GGAGGCCGTGGCGGGAGGGCCTGTTGGGTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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