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
PRKN_chr6_161342417_162732766	162418613	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	32	0.0313	24	c.171 others(43): Show c.171+24673_171+24696dupACACACACACACACACACACACAC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162556342	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	32	0.0313	24	c.8-1 others(41): Show c.8-112870_8-112869insACACACACACACACACACACACCC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162727283	A A	AGGGGCGA others(17): Show AGGGGCGAAGGTGAGGGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02897.hp2 HG03688.hp1 HG02602.hp2 HG02897.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001	a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0004t0001g0001 a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0004t0001g0001	3	32	0.0938	24	c.7+3 others(35): Show c.7+355_7+378dupGCCGCCGCCCCTCACCTTCGCCCC		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102429710	T T	TGAGACAG others(17): Show TGAGACAGCTGACCCAGGCGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	382	0.0026	24	c.45 others(35): Show c.4599_*4600insGAGACAGCTGACCCAGGCGGTGGG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					3045		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431115	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	382	0.0026	24	c.60 others(35): Show c.6004_*6005insTGTGTGTGTGTGTGTGTGTGTGTG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					4450		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01975.hp1 HG02280.hp2 others(15): Show HG01361.hp1 HG01975.hp1 HG02280.hp2 HG02293.hp2 HG02698.hp1 HG02723.hp1 HG02922.hp2 HG03017.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18981.hp2 NA18983.hp2 NA19005.hp2 NA19075.hp2 NA19082.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0007c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0129 a0001c0001t0001g0141 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0002g0001 a0001c0001t0002g0091 a0001c0001t0003g0015 a0001c0001t0003g0155 a0001c0001t0003g0177 a0001c0001t0007g0005 a0001c0001t0008g0120 a0007c0005t0001g0127	18	382	0.0471	24	c.60 others(35): Show c.6006_*6007insTGTGTGTGTGTGTGTGTGTGTGTG		PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding					4452		chr7	TogoVar
PRKX_chrX_3599340_3718649	3639203	A A	AGGTGGGT others(17): Show AGGTGGGTGGATGGATGAAGGGGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18999.hp2 HG02630.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0077 a0001c0001t0004 a0001c0008t0077	a0001c0001t0004g0104 a0001c0008t0077g0089 a0001c0001t0004g0104 a0001c0008t0077g0089	2	227	0.0088	24	c.719 others(41): Show c.719+2625_719+2648dupCACCCCTTCATCCATCCACCCACC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639439	G G	GGATGGAT others(17): Show GGATGGATGAAGGGGTGGGGTGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	227	0.0044	24	c.719 others(41): Show c.719+2412_719+2413insTACCACCCCACCCCTTCATCCATC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRLHR_chr10_118584997_118600648	118586926	T T	TTCCCTCC others(17): Show TTCCCTCCACCCCAGGCTGGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG03486.hp1 HG02257.hp1 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0044 a0001c0001t0006 a0001c0001t0044	a0001c0001t0006g0010 a0001c0001t0044g0055 a0001c0001t0006g0010 a0001c0001t0044g0055	3	444	0.0068	24	c.72 others(35): Show c.7205_*7206insTGGGGCCAGCCTGGGGTGGAGGGA		PRLHR	ENSG00000119973.6	transcript	ENST00000239032.4	protein_coding					3070		chr10	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0116 a0002c0002t0007g0116	1	214	0.0047	24	c.374 others(41): Show c.374-1761_374-1760insATATATATATATATATATATATAT		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9						chr5	TogoVar
PRLR_chr5_35050702_35235487	35193811	A A	AGGTCATA others(17): Show AGGTCATATGGGCTAATTCTGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0056	a0001c0003t0056g0207 a0001c0003t0056g0207	1	214	0.0047	24	c.-10 others(45): Show c.-106+36433_-106+36456dupGCATCAGAATTAGCCCATATGACC		PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9						chr5	TogoVar
PRL_chr6_22282246_22302036	22293639	G G	GAAGGAAG others(17): Show GAAGGAAGGAGGGAAGGAAGGAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01884.hp2 others(7): Show HG00642.hp2 HG01081.hp1 HG01884.hp2 HG02145.hp1 HG02145.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0096 a0001c0003t0001g0059 a0001c0003t0001g0060	10	446	0.0224	24	c.204 others(39): Show c.204+769_204+770insTTTTCCTTCCTTCCCTCCTTCCTT		PRL	ENSG00000172179.13	transcript	ENST00000306482.2	protein_coding	2/4						chr6	TogoVar
PRM2_chr16_11270639_11281480	11273413	T T	TTCCCCCT others(17): Show TTCCCCCTCCTCCTCCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	402	0.0025	24	c.24 others(35): Show c.2463_*2486dupGGAGGAAGAGGAGGAGGAGGGGGA		PRM2	ENSG00000122304.11	transcript	ENST00000241808.9	protein_coding					2225		chr16	TogoVar
PRM3_chr16_11268199_11278629	11273413	T T	TTCCCCCT others(17): Show TTCCCCCTCCTCCTCCTCTTCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	414	0.0024	24	c.159 others(31): Show c.159_182dupGGAGGAAGAGGAGGAGGAGGGGGA	p.Glu others(35): Show p.Glu61_Glu62insGluGluGluGluGluGluGlyGlu	PRM3	ENSG00000178257.4	transcript	ENST00000327157.4	protein_coding	1/1	216/431	182/312	61/103			chr16	TogoVar
PRMT3_chr11_20382716_20514338	20481923	G G	GGAAACAT others(17): Show GGAAACATTACCATTATGAAAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 NA20300.hp2 HG02922.hp2 NA18906.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010	3	380	0.0079	24	c.134 others(45): Show c.1348-11995_1348-11972dupGAAACATTACCATTATGAAAAAAT		PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT3_chr11_20382716_20514338	20504707	T T	TGTGTGAG others(17): Show TGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	380	0.0026	24	c.148 others(43): Show c.1487-3596_1487-3595insTGTGAGAGAGAGAGAGAGAGAGAG		PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT7_chr16_68306019_68363584	68319711	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 NA19070.hp2 HG01496.hp2 HG02280.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0002t0009g0175 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0002t0009g0175	3	284	0.0106	24	c.96- others(39): Show c.96-1708_96-1685dupGTGTGTGTGTGTGTGTGTGTGTGT		PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACAAACA others(17): Show TACAAACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18949.hp2 NA18973.hp2 others(3): Show HG02132.hp2 NA18949.hp2 NA18973.hp2 NA18994.hp1 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0117 others(2): Show a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119	6	284	0.0211	24	c.928 others(39): Show c.928-739_928-738insAACACACACACACACACACACACA		PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01261.hp1 others(9): Show HG00639.hp1 HG01192.hp2 HG01261.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG03098.hp2 HG03540.hp2 HG04199.hp1 NA18906.hp1 NA18995.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0011 a0001c0002 a0001c0003 a0003c0011	a0001c0002t0002 a0001c0003t0002 a0001c0003t0012 others(1): Show a0001c0002t0002 a0001c0003t0002 a0001c0003t0012 a0003c0011t0002	a0001c0002t0002g0122 a0001c0003t0002g0061 a0001c0003t0002g0094 others(9): Show a0001c0002t0002g0122 a0001c0003t0002g0061 a0001c0003t0002g0094 a0001c0003t0002g0101 a0001c0003t0002g0104 a0001c0003t0002g0108 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0012g0059 a0003c0011t0002g0036	12	284	0.0423	24	c.928 others(39): Show c.928-741_928-718dupACACACACACACACACACACACAC		PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(17): Show TACACACACACACACACACATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02559.hp1 others(7): Show HG02145.hp1 HG02145.hp2 HG02559.hp1 NA18944.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp2 NA19055.hp2 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0165 others(7): Show a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0233	10	284	0.0352	24	c.928 others(39): Show c.928-723_928-722insTACACACACACACACACACACACA		PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3490675	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18994.hp1 NA18747.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0115 a0001c0001t0001g0117	2	364	0.0055	24	c.-95 others(33): Show c.-951_-950insAGAGAGAGAGAGAGAGAGAGAGAG		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding					527		chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496199	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	364	0.0028	24	c.75+ others(39): Show c.75+4515_75+4516insATATATATATATATATATATATAT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp2 HG01071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0245 a0001c0001t0001g0014 a0001c0001t0001g0245	2	364	0.0055	24	c.75+ others(39): Show c.75+4515_75+4516insATATATATATATATATTTTTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03130.hp1 HG01358.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0160 a0001c0002t0002g0218 a0001c0001t0001g0160 a0001c0002t0002g0218	2	364	0.0055	24	c.75+ others(39): Show c.75+4515_75+4516insATATATATATATTTTTTTTTTTTT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3558961	C C	CCTATCTA others(17): Show CCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0276 a0001c0001t0001g0277	2	364	0.0055	24	c.481 others(41): Show c.481+5254_481+5277dupATCTATCTATCTATCTATCTATCT		PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PROCA1_chr17_28698197_28716888	28710978	T T	TGGGAAGG others(17): Show TGGGAAGGGAGGGAAGGAGTAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp1 others(148): Show HG00099.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0009	a0001c0001 a0001c0009 a0001c0010 others(3): Show a0001c0001 a0001c0009 a0001c0010 a0006c0007 a0008c0005 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0010t0001 a0006c0007t0001 a0008c0005t0001 a0009c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(90): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0009t0001g0129 a0001c0010t0001g0111 a0006c0007t0001g0126 a0008c0005t0001g0122 a0009c0013t0001g0159	151	320	0.4719	24	c.91+ others(37): Show c.91+568_91+591dupGCCCTACTCCTTCCCTCCCTTCCC		PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4						chr17	TogoVar
PRODH2_chr19_35794988_35817845	35811453	A A	AAGGGAGG others(17): Show AAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	428	0.0023	24	c.597 others(39): Show c.597+508_597+509insCCCTCCCTCCCTCCCTCCCTCCCT		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9						chr19	TogoVar
PRODH2_chr19_35794988_35817845	35811457	A A	AAGGGAGG others(17): Show AAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02145.hp2 others(6): Show HG01109.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG03195.hp2 HG03225.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0004 others(2): Show a0001c0001 a0001c0010 a0002c0004 a0002c0008 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0001 a0002c0004t0001 a0002c0008t0001 a0002c0011t0001	a0001c0001t0001g0081 a0001c0001t0002g0082 a0001c0010t0001g0067 others(6): Show a0001c0001t0001g0081 a0001c0001t0002g0082 a0001c0010t0001g0067 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0114 a0002c0008t0001g0068 a0002c0008t0001g0069 a0002c0011t0001g0070	9	428	0.0210	24	c.597 others(39): Show c.597+504_597+505insCCCTCCCTCCCTCCCTCCCTCCCT		PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9						chr19	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTTTCTTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02056.hp1 HG02074.hp1 others(10): Show HG01993.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02155.hp1 NA18941.hp1 NA18953.hp1 NA18980.hp1 NA19001.hp1 NA19001.hp2 NA19055.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003	a0001c0002t0001g0088 a0001c0002t0001g0185 a0001c0002t0002g0046 others(10): Show a0001c0002t0001g0088 a0001c0002t0001g0185 a0001c0002t0002g0046 a0001c0002t0002g0159 a0001c0002t0002g0179 a0001c0002t0002g0182 a0001c0002t0002g0241 a0001c0002t0002g0305 a0001c0002t0002g0370 a0001c0002t0003g0307 a0003c0007t0001g0175 a0003c0007t0002g0240 a0003c0007t0003g0319	13	374	0.0348	24	c.145 others(43): Show c.1454+1708_1454+1709insGGAAGAAAAAGAAAGAAAGAAAGA		PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27						chr4	TogoVar
PROM1_chr4_15963228_16089023	16027297	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0004 a0011c0009t0004	a0011c0009t0004g0322 a0011c0009t0004g0322	1	374	0.0027	24	c.510 others(41): Show c.510-2009_510-1986dupGTGTGTGTGTGTGTGTGTGTGTGT		PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	5/27						chr4	TogoVar
PRORP_chr14_35117552_35282622	35172453	C C	CTTCCTTC others(17): Show CTTCCTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01074.hp1 others(6): Show HG00099.hp2 HG00639.hp2 HG01074.hp1 HG01257.hp2 HG01361.hp2 HG02273.hp1 HG02615.hp1 HG03669.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011	a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0133 others(6): Show a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0313 a0001c0001t0007g0171 a0001c0001t0007g0173 a0001c0001t0007g0176 a0001c0001t0009g0167 a0001c0001t0011g0154	9	314	0.0287	24	c.116 others(43): Show c.1168-8214_1168-8213insCTTCCTTCCTTCCTTCTTTCTTTC		PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRORP_chr14_35117552_35282622	35180526	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp2 HG02615.hp1 others(1): Show HG00741.hp1 HG01257.hp2 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0172 others(1): Show a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173	4	314	0.0127	24	c.116 others(41): Show c.1168-142_1168-119dupGTGTGTGTGTGTGTGTGTGTGTGT		PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
PROS1_chr3_93868051_93978896	93923237	A A	AATATTTT others(17): Show AATATTTTATCTAAGGAACTTCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	314	0.0032	24	c.259 others(40): Show c.259+979_259+1002dupGGGGAAGTTCCTTAGATAAAATAT		PROS1	ENSG00000184500.16	transcript	ENST00000394236.9	protein_coding	3/14						chr3	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01175.hp1 others(3): Show HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01517.hp2 HG02809.hp2 NA19065.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0013 a0005c0005t0001 a0001c0001t0001 a0001c0001t0013 a0005c0005t0001	a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0262 a0001c0001t0013g0345 a0005c0005t0001g0294	6	348	0.0172	24	c.-81 others(41): Show c.-81-9062_-81-9039dupTTTTTTTTTTTTTTTTTTTTTTTT		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROX2_chr14_74848033_74881145	74870441	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02809.hp2 NA18995.hp1 others(1): Show HG02040.hp2 HG02809.hp2 NA18995.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 others(1): Show a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0255	4	384	0.0104	24	c.-17 others(41): Show c.-175+638_-175+661dupGTGTGTGTGTGTGTGTGTGTGTGT		PROX2	ENSG00000119608.15	transcript	ENST00000556489.4	protein_coding	2/5						chr14	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(17): Show TAACATTATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02280.hp2 others(6): Show HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02896.hp1 HG02896.hp2 HG03130.hp2 HG03195.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0011g0018 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0011g0018 a0001c0001t0011g0050 a0001c0001t0014g0018 a0001c0001t0015g0001 a0001c0001t0033g0043 a0001c0001t0034g0042	9	362	0.0249	24	c.-29 others(35): Show c.-2984_-2983insAACATTATATATATATATAATGTG		PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding					2701		chr1	TogoVar
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	362	0.0028	24	c.184 others(41): Show c.1844-678_1844-677insTTTTTTTTTTTTTTTTTTTTTTTT		PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	63976764	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	294	0.0034	24	c.-44 others(35): Show c.-4482_-4481insAAAAAAAAAAAAAAAAAAAAAAAA		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding					4367		chr20	TogoVar
PRPH2_chr6_42691598_42727597	42705597	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19081.hp2 HG01981.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0206 a0002c0003t0003g0216 a0002c0003t0003g0206 a0002c0003t0003g0216	2	392	0.0051	24	c.582 others(39): Show c.582-987_582-986insATATATATATATATATATATATAT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03927.hp1 HG04204.hp1 others(1): Show HG02165.hp2 HG03927.hp1 HG04204.hp1 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0003 a0001c0002t0001 a0002c0004t0003	a0001c0002t0001g0269 a0001c0002t0001g0292 a0001c0002t0001g0337 others(1): Show a0001c0002t0001g0269 a0001c0002t0001g0292 a0001c0002t0001g0337 a0002c0004t0003g0190	4	392	0.0102	24	c.582 others(39): Show c.582-989_582-988insATATATATATATATATATATTTTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 NA18952.hp2 others(1): Show HG00738.hp2 HG01256.hp2 NA18952.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0002t0001g0199 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0002t0001g0199 a0001c0002t0001g0287	4	392	0.0102	24	c.582 others(39): Show c.582-989_582-988insATATATATATATATATATATATTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPS1L1_chr7_18021770_18032846	18030627	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG02572.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	462	0.0043	24	c.-28 others(35): Show c.-2846_-2845insATATATATATATATATATATATAT		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(17): Show TATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	462	0.0022	24	c.-28 others(35): Show c.-2870_-2869insGTGTGTATATATATATATATATAT		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(17): Show TATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA18963.hp2 NA19064.hp1 HG03579.hp1 NA18963.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	462	0.0065	24	c.-28 others(35): Show c.-2870_-2869insGTGTATATATATATATATATATAT		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(17): Show TATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(17): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02135.hp1 NA18942.hp1 NA18962.hp1 NA18967.hp2 NA18978.hp1 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA19057.hp2 NA19059.hp2 NA19063.hp2 NA19081.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0003t0001g0000	20	462	0.0433	24	c.-28 others(35): Show c.-2870_-2869insGTATATATATATATATATATATAT		PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding					2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS2_chrX_12786412_12829222	12808288	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0001g0255 a0001c0002t0001g0260	2	334	0.0060	24	c.307 others(39): Show c.307-942_307-919dupGTGTGTGTGTGTGTGTGTGTGTGT		PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12828728	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	334	0.0030	24	c.59 others(35): Show c.5932_*5933insTTCCTTCCTTCCTTCCTTCCTTCC		PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding					4507		chrX	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTTTATTTATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01070.hp2 others(5): Show HG00544.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp1 HG02071.hp1 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0068 a0001c0002t0002g0069 others(5): Show a0001c0002t0002g0031 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0073 a0001c0002t0002g0083 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0098	8	392	0.0204	24	c.584 others(41): Show c.584+2851_584+2852insGTGTGTGTGTGTGTTTATTTATTT		PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	392	0.0026	24	c.584 others(41): Show c.584+2851_584+2852insGTGTGTGTGTTTATTTATTTATTT		PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR12_chr19_49586182_49631439	49615590	G G	GTCAGAGT others(17): Show GTCAGAGTCCCAGAGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(139): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18957.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19077.hp1 NA19080.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0013 a0015 a0016 a0017 a0019 a0027 a0028 a0032 a0033	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0001c0022 a0001c0028 a0001c0034 a0001c0036 a0002c0041 a0003c0005 a0003c0012 a0004c0011 a0004c0016 a0005c0024 a0005c0025 a0007c0031 a0008c0014 a0010c0050 a0013c0027 a0015c0035 a0016c0030 a0017c0032 a0019c0040 a0027c0029 a0028c0033 a0032c0026 a0033c0023	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0011 a0001c0006t0001 a0001c0006t0003 a0001c0013t0001 a0001c0017t0001 a0001c0018t0001 a0001c0020t0001 a0001c0022t0001 a0001c0028t0003 a0001c0034t0001 a0001c0036t0001 a0002c0041t0001 a0003c0005t0001 a0003c0012t0001 a0003c0012t0002 a0004c0011t0001 a0004c0011t0002 a0004c0016t0001 a0005c0024t0001 a0005c0025t0001 a0007c0031t0001 a0008c0014t0005 a0010c0050t0003 a0013c0027t0001 a0015c0035t0001 a0016c0030t0001 a0017c0032t0001 a0019c0040t0001 a0027c0029t0001 a0028c0033t0001 a0032c0026t0002 a0033c0023t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(139): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0247 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0003g0270 a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0140 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0151 a0001c0002t0003g0064 a0001c0002t0005g0087 a0001c0002t0005g0088 a0001c0002t0006g0094 a0001c0002t0006g0138 a0001c0002t0006g0139 a0001c0002t0008g0125 a0001c0002t0008g0126 a0001c0002t0008g0127 a0001c0002t0013g0063 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0002g0149 a0001c0003t0011g0121 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0033 a0001c0006t0003g0030 a0001c0013t0001g0095 a0001c0013t0001g0128 a0001c0017t0001g0155 a0001c0017t0001g0156 a0001c0018t0001g0018 a0001c0018t0001g0020 a0001c0020t0001g0016 a0001c0020t0001g0017 a0001c0022t0001g0050 a0001c0028t0003g0085 a0001c0034t0001g0097 a0001c0036t0001g0096 a0002c0041t0001g0037 a0003c0005t0001g0271 a0003c0012t0001g0001 a0003c0012t0002g0072 a0004c0011t0001g0052 a0004c0011t0002g0075 a0004c0016t0001g0157 a0005c0024t0001g0150 a0005c0025t0001g0027 a0007c0031t0001g0117 a0008c0014t0005g0089 a0008c0014t0005g0090 a0010c0050t0003g0269 a0013c0027t0001g0086 a0015c0035t0001g0124 a0016c0030t0001g0083 a0017c0032t0001g0130 a0019c0040t0001g0029 a0027c0029t0001g0058 a0028c0033t0001g0112 a0032c0026t0002g0048 a0033c0023t0001g0023	142	322	0.4410	24	c.502 others(41): Show c.5025-156_5025-133dupTCAGAGTCCCAGAGAGGGAGGGGA		PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar

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