Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRPF4B_chr6_4016300_4069983	4053903	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG02896.hp1 others(1): Show HG02257.hp1 HG02895.hp1 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0006 a0001c0001t0009 a0001c0005t0006	a0001c0001t0009g0213 a0001c0001t0009g0220 a0001c0001t0009g0221 others(1): Show a0001c0001t0009g0213 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0005t0006g0212	4	368	0.0109	20	c.246 others(39): Show c.2466+1036_2466+1055dupTTTTGTTTTGTTTTGTTTTG	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705595	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0313 a0003c0005t0003g0313	1	392	0.0026	20	c.582 others(35): Show c.582-985_582-984insATATATATATATATATATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705597	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0234 a0003c0005t0003g0234	1	392	0.0026	20	c.582 others(35): Show c.582-987_582-986insATATATATATATATATATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02622.hp2 HG02735.hp2 others(2): Show HG02074.hp2 HG02622.hp2 HG02735.hp2 HG03669.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0002c0003t0007 a0001c0002t0001 a0002c0003t0003 a0002c0003t0007	a0001c0002t0001g0257 a0001c0002t0001g0334 a0001c0002t0001g0354 others(2): Show a0001c0002t0001g0257 a0001c0002t0001g0334 a0001c0002t0001g0354 a0002c0003t0003g0248 a0002c0003t0007g0362	5	392	0.0128	20	c.582 others(35): Show c.582-989_582-988insATATATATATATATATTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02886.hp2 NA18948.hp2 others(1): Show HG00735.hp1 HG02886.hp2 NA18948.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0298 a0001c0002t0001g0317 others(1): Show a0001c0002t0001g0205 a0001c0002t0001g0298 a0001c0002t0001g0317 a0001c0002t0001g0318	4	392	0.0102	20	c.582 others(35): Show c.582-989_582-988insATATATATATATATATATTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	392	0.0026	20	c.582 others(36): Show c.582-1008_582-989dupATATATATATATATATATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPS1L1_chr7_18021770_18032846	18030627	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	20	c.-28 others(31): Show c.-2846_-2845insATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2782	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(13): Show TATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01261.hp1 others(5): Show HG01071.hp2 HG01106.hp1 HG01261.hp1 HG01433.hp1 HG02135.hp2 NA18969.hp1 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	8	462	0.0173	20	c.-28 others(31): Show c.-2870_-2869insGTGTGTATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18612.hp1 NA18943.hp2 others(2): Show HG02165.hp1 NA18612.hp1 NA18943.hp2 NA19006.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	462	0.0108	20	c.-28 others(31): Show c.-2870_-2869insGTATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS2_chrX_12786412_12829222	12801221	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02559.hp2 HG02647.hp1 others(9): Show HG00544.hp2 HG02559.hp2 HG02647.hp1 HG02809.hp2 HG03239.hp1 HG03491.hp1 HG03579.hp1 HG04115.hp1 NA18906.hp1 NA18949.hp2 NA18997.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0002g0083 others(9): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0002g0083 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0285 a0001c0002t0001g0300 a0001c0002t0001g0305 a0001c0002t0002g0296 a0001c0002t0008g0304	12	334	0.0359	20	c.306 others(37): Show c.306+1844_306+1863dupGTGTGTGTGTGTGTGTGTGT	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12808288	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02145.hp1 HG03453.hp2 HG00423.hp1 HG02145.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0284 a0001c0002t0001g0293 a0001c0002t0002g0266 a0001c0002t0001g0284 a0001c0002t0001g0293 a0001c0002t0002g0266	3	334	0.0090	20	c.307 others(35): Show c.307-938_307-919dupGTGTGTGTGTGTGTGTGTGT	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12826648	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0288 a0001c0002t0002g0288	1	334	0.0030	20	c.38 others(31): Show c.3852_*3853insAAAAAAAAAAAAAAAAAAAA	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		2427		chrX	TogoVar
PRPS2_chrX_12786412_12829222	12828728	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01243.hp1 NA19059.hp1 others(1): Show HG00438.hp1 HG01243.hp1 NA19059.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0019 a0001c0002t0005 a0001c0001t0012 a0001c0001t0019 a0001c0002t0005	a0001c0001t0012g0068 a0001c0001t0012g0169 a0001c0001t0019g0170 others(1): Show a0001c0001t0012g0068 a0001c0001t0012g0169 a0001c0001t0019g0170 a0001c0002t0005g0265	4	334	0.0120	20	c.59 others(31): Show c.5932_*5933insTTCCTTCCTTCCTTCCTTCC	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		4507		chrX	TogoVar
PRPSAP1_chr17_76304478_76358916	76314201	A A	AATGTATG others(13): Show AATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 NA19043.hp2 HG02257.hp1 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0015 a0001c0002t0006 a0001c0002t0015	a0001c0002t0006g0347 a0001c0002t0015g0027 a0001c0002t0015g0028 a0001c0002t0006g0347 a0001c0002t0015g0027 a0001c0002t0015g0028	3	366	0.0082	20	c.782 others(35): Show c.782-330_782-311dupACATACATACATACATACAT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
PRPSAP1_chr17_76304478_76358916	76345237	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03195.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0040 a0001c0002t0002g0036 a0001c0002t0002g0042 a0001c0001t0010g0040 a0001c0002t0002g0036 a0001c0002t0002g0042	3	366	0.0082	20	c.224 others(35): Show c.224-501_224-500insTTTTTTTTTTTTTTTTTTTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP1_chr17_76304478_76358916	76348160	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0014g0008 a0001c0001t0014g0009	2	366	0.0055	20	c.223 others(35): Show c.223+349_223+368dupATTTATTTATTTATTTATTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18861883	T T	TTTTGTTT others(13): Show TTTTGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0178 a0001c0002t0009g0178	1	392	0.0026	20	c.-12 others(39): Show c.-128-3582_-128-3563dupGTTTGTTTGTTTGTTTGTTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18869836	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	392	0.0026	20	c.172 others(37): Show c.172+2503_172+2504insGTGTGTGTGTGTGTGTGTGT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTTTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01109.hp1 others(31): Show HG00558.hp2 HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp1 HG02895.hp2 HG03654.hp1 HG03688.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA19003.hp1 NA19055.hp1 NA19075.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 others(31): Show a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0079 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0177 a0001c0002t0007g0359	34	392	0.0867	20	c.584 others(37): Show c.584+2851_584+2852insGTGTGTGTGTTTATTTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR12_chr19_49586182_49631439	49607361	G G	GCGCACAC others(13): Show GCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0035 a0002c0004t0007g0036 a0002c0004t0007g0035 a0002c0004t0007g0036	2	322	0.0062	20	c.477 others(39): Show c.4773+5444_4773+5445insGCACACACACACACACACAC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49607361	G G	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0045 a0002c0004t0004g0045	1	322	0.0031	20	c.477 others(39): Show c.4773+5444_4773+5445insGCGCACACACACACACACAC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR12_chr19_49586182_49631439	49607361	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0043 a0002c0004t0004g0043	1	322	0.0031	20	c.477 others(39): Show c.4773+5444_4773+5445insGCGCGCACACACACACACAC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0059 a0002c0002t0003g0059	1	316	0.0032	20	c.79 others(31): Show c.7922_*7923insATATATATATATTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR16_chr5_120459300_120692314	120530254	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	170	0.0059	20	c.159 others(39): Show c.159+65620_159+65639dupATATATATATATATATATAT	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR16_chr5_120459300_120692314	120575318	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03516.hp1 HG03831.hp1 HG01358.hp1 HG03516.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0169 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0169	3	170	0.0177	20	c.160 others(41): Show c.160-110619_160-110600dupACACACACACACACACACAC	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR16_chr5_120459300_120692314	120646048	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03492.hp2 others(2): Show HG01168.hp2 HG01169.hp1 HG03492.hp2 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0024	5	170	0.0294	20	c.160 others(39): Show c.160-39898_160-39879dupATATATATATATATATATAT	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR19_chr19_42297132_42315814	42311259	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02735.hp2 HG01243.hp1 HG02615.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0146 a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0146	3	278	0.0108	20	c.51 others(29): Show c.519_*520insTTCCTTCCTTCCTTCCTTCC	PRR19	ENSG00000188368.11	transcript	ENST00000341747.8	protein_coding		446		chr19	TogoVar
PRR20E_chr13_57162197_57175218	57162954	A A	AACCTGGA others(13): Show AACCTGGAAGAAGTGGGATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0025 a0008c0010t0025	a0008c0010t0025g0003 a0008c0010t0025g0003	1	258	0.0039	20	c.-44 others(31): Show c.-4476_-4475insACCTGGAAGAAGTGGGATGC	PRR20E	ENSG00000234278.3	transcript	ENST00000434815.1	protein_coding		4242		chr13	TogoVar
PRR22_chr19_5777960_5789746	5786739	G G	GAACACCC others(13): Show GAACACCCACCGAACAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	20	c.-20 others(31): Show c.-2099_-2080dupGCCCCTGTTCGGTGGGTGTT	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		1994		chr19	TogoVar
PRR23A_chr3_138998962_139011268	139010719	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02965.hp1 HG03453.hp1 HG01358.hp2 HG02965.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	384	0.0078	20	c.-44 others(31): Show c.-4452_-4451insGAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4452		chr3	TogoVar
PRR23C_chr3_139037102_139049892	139047999	G G	GATATAGA others(13): Show GATATAGAGATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18981.hp1 NA19070.hp2 HG02080.hp2 NA18981.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	426	0.0070	20	c.-33 others(31): Show c.-3380_-3379insATATATATATATCTCTATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0133 a0001c0001t0063g0133	1	444	0.0023	20	c.649 others(37): Show c.649-1142_649-1141insCTCTCTCTCTCTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18984.hp2 NA19007.hp1 HG03688.hp2 NA18984.hp2 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0017 a0001c0001t0030 a0005c0011t0012 a0001c0001t0017 a0001c0001t0030 a0005c0011t0012	a0001c0001t0017g0038 a0001c0001t0030g0038 a0005c0011t0012g0105 a0001c0001t0017g0038 a0001c0001t0030g0038 a0005c0011t0012g0105	3	444	0.0068	20	c.649 others(37): Show c.649-1142_649-1141insCTCTCTCTCTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(13): Show CTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19081.hp2 NA19063.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0139 a0001c0001t0001g0140	2	444	0.0045	20	c.649 others(37): Show c.649-1142_649-1141insCTCTCTCTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(13): Show CTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01496.hp2 HG02148.hp2 others(4): Show HG00423.hp1 HG01496.hp2 HG02148.hp2 HG02622.hp2 HG02723.hp2 HG04199.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0069 a0001c0001t0003 a0001c0001t0018 a0001c0001t0069	a0001c0001t0003g0016 a0001c0001t0003g0111 a0001c0001t0018g0249 others(1): Show a0001c0001t0003g0016 a0001c0001t0003g0111 a0001c0001t0018g0249 a0001c0001t0069g0149	7	444	0.0158	20	c.649 others(37): Show c.649-1142_649-1141insCTCTCTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTGT others(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG03041.hp2 others(3): Show HG02809.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0132 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162	6	444	0.0135	20	c.649 others(37): Show c.649-1142_649-1141insCTCTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0179 a0001c0001t0034g0197 a0001c0001t0001g0179 a0001c0001t0034g0197	2	444	0.0045	20	c.649 others(37): Show c.649-1142_649-1141insCTGTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02965.hp1 others(4): Show HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03471.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 a0001c0001t0034 a0001c0001t0054	a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0005g0059 others(3): Show a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0005g0059 a0001c0001t0029g0200 a0001c0001t0034g0199 a0001c0001t0054g0082	7	444	0.0158	20	c.649 others(35): Show c.649-425_649-406dupTATATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR35_chr16_555394_570529	562909	A A	AAAATCGA others(13): Show AAAATCGAATTTCCGATAAAC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	424	0.0024	20	c.-39 others(35): Show c.-39-344_-39-325dupATCGAATTTCCGATAAACAA	PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRR36_chr19_7863719_7879390	7878618	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	386	0.0026	20	c.-43 others(31): Show c.-4341_-4340insAAAATATATATATATATATA	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding		4229		chr19	TogoVar
PRR5L_chr11_36291288_36470204	36413700	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp2 NA20300.hp1 HG02257.hp2 HG03209.hp2 NA20300.hp1	a0002 a0006 a0002 a0006	a0002c0005 a0006c0012 a0002c0005 a0006c0012	a0002c0005t0001 a0006c0012t0002 a0002c0005t0001 a0006c0012t0002	a0002c0005t0001g0131 a0006c0012t0002g0100 a0006c0012t0002g0141 a0002c0005t0001g0131 a0006c0012t0002g0100 a0006c0012t0002g0141	3	272	0.0110	20	c.246 others(37): Show c.246-5547_246-5528dupTTATTTTATTTTATTTTATT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36420834	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	272	0.0037	20	c.294 others(37): Show c.294+1556_294+1575dupACACACACACACACACACAC	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5_chr22_44697204_44742681	44714483	T T	TGGCTATC others(13): Show TGGCTATCCTGCCCTTCTAGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	442	0.0023	20	c.135 others(34): Show c.135-107_135-88dupGGCTATCCTGCCCTTCTAGG	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRR5_chr22_44697204_44742681	44740595	T T	TATGTGTG others(13): Show TATGTGTGTGCATGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0248 a0002c0003t0002g0248	1	442	0.0023	20	c.33 others(31): Show c.3348_*3349insATGTGTGTGCATGTGTGTGC	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		2915		chr22	TogoVar
PRR5_chr22_44697204_44742681	44740597	T T	TATGTGTG others(13): Show TATGTGTGTGCATGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0332 a0002c0003t0002g0332	1	442	0.0023	20	c.33 others(31): Show c.3350_*3351insATGTGTGTGCATGTGTGTGC	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		2917		chr22	TogoVar
PRR5_chr22_44697204_44742681	44742345	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 NA19065.hp2 HG03492.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0139 a0001c0002t0001g0211 a0001c0001t0001g0139 a0001c0002t0001g0211	2	442	0.0045	20	c.50 others(31): Show c.5098_*5099insTTTTTTTTTTTTTTTTTTTT	PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding		4665		chr22	TogoVar
PRRC1_chr5_127512640_127560085	127531617	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0135 a0001c0001t0008g0137 a0001c0001t0008g0135 a0001c0001t0008g0137	2	340	0.0059	20	c.757 others(37): Show c.757+1223_757+1224insCTTTTTTTTTTTTTTTTTTT	PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRC2B_chr9_131389086_131505193	131420451	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19057.hp2 HG02895.hp2 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0003 a0002c0010t0009 a0002c0003t0003 a0002c0010t0009	a0002c0003t0003g0018 a0002c0010t0009g0189 a0002c0003t0003g0018 a0002c0010t0009g0189	2	216	0.0093	20	c.-51 others(37): Show c.-51-9642_-51-9641insCTTTCTTTCTTTCTTTCTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131430518	G G	GATATCTA others(13): Show GATATCTATCTATAGATATCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	216	0.0046	20	c.115 others(35): Show c.115+262_115+263insTCTATCTATAGATATCTATA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG00280.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0045 a0001c0001t0001 a0001c0001t0045	a0001c0001t0001g0104 a0001c0001t0045g0121 a0001c0001t0001g0104 a0001c0001t0045g0121	2	216	0.0093	20	c.112 others(37): Show c.1120+747_1120+766dupAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar

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