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
PRKCE_chr2_45646675_46192990	45744479	TTCTTTCT others(18): Show TTCTTTCTTTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0147 a0001c0003t0001g0148 a0001c0001t0003g0147 a0001c0003t0001g0148	2	159	0.0126	-25	c.348 others(44): Show c.348+92033_348+92057delCTTTCTTTTTCTTTCTTTCTTTTCT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45744483	TTCTTTTT others(18): Show TTCTTTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0156 a0001c0001t0013g0156	1	162	0.0062	-25	c.348 others(44): Show c.348+92037_348+92061delCTTTTTCTTTCTTTCTTTTCTTTCT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCG_chr19_53877197_53912652	53878633	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02896.hp1 HG00280.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0327 a0001c0002t0001g0118 a0001c0001t0001g0327 a0001c0002t0001g0118	2	340	0.0059	-25	c.-38 others(36): Show c.-3861_-3837delAAAAAAAAAAAAAAAAAATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3563		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53878635	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	329	0.0030	-25	c.-38 others(36): Show c.-3859_-3835delAAAAAAAAAAAAAAAATATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3561		chr19	TogoVar
PRKCG_chr19_53877197_53912652	53878651	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0055 a0001c0012t0002g0055	1	360	0.0028	-25	c.-38 others(36): Show c.-3843_-3819delTATATATATATATATATATATATAT	PRKCG	ENSG00000126583.12	transcript	ENST00000263431.4	protein_coding		3545		chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2048518	GGAGGCCG others(18): Show GGAGGCCGGGGCAGCAAAGAGGCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	284	0.0035	-25	c.-21 others(36): Show c.-2112_-2088delGAGGCCGGGGCAGCAAAGAGGCCTC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding		1892		chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2095724	CCTCCCCA others(18): Show CCTCCCCACCTTTCCGCTCCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18997.hp1 HG02056.hp2 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0143 a0001c0002t0004g0144 a0001c0002t0001g0143 a0001c0002t0004g0144	2	284	0.0070	-25	c.334 others(44): Show c.334+36140_334+36164delACCTTTCCGCTCCCCTCCTCTCCCC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122991	AGGGTCGT others(18): Show AGGGTCGTGGTGGTTAGGGTCGTGGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	235	0.0043	-25	c.335 others(44): Show c.335-12268_335-12244delGTCGTGGTGGTTAGGGTCGTGGCGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2177885	AGCCCTGC others(18): Show AGCCCTGCCTCTGCCACCGACCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	284	0.0035	-25	c.157 others(44): Show c.1575+2598_1575+2622delGCCCTGCCTCTGCCACCGACCGCCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29598271	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG01884.hp1 others(16): Show HG01106.hp2 HG01175.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0006c0012 others(1): Show a0001c0001 a0001c0003 a0006c0012 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0012 a0006c0012t0001 a0007c0013t0001	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0064 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0002g0111 a0001c0001t0006g0001 a0001c0001t0007g0010 a0001c0001t0010g0011 a0001c0003t0012g0137 a0006c0012t0001g0106 a0007c0013t0001g0084	19	26	0.7308	-25	c.216 others(42): Show c.2167-538_2167-514delTTTTATTTTATTTTATTTTATTTTA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	15/17			chr14	TogoVar
PRKD1_chr14_29571479_29932847	29808373	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0084 a0007c0013t0001g0084	1	35	0.0286	-25	c.265 others(44): Show c.265-82724_265-82700delAAAAAAAAAAAAAAAAAAAAAAAAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKG1_chr10_51069487_52303350	51381256	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02886.hp2 others(2): Show HG02559.hp1 HG02615.hp1 HG02886.hp2 HG02896.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0003 a0001c0008t0001	a0001c0001t0003g0029 a0001c0001t0005g0018 a0001c0001t0008g0027 others(2): Show a0001c0001t0003g0029 a0001c0001t0005g0018 a0001c0001t0008g0027 a0001c0002t0003g0034 a0001c0008t0001g0020	5	7	0.7143	-25	c.479 others(44): Show c.479-86447_479-86423delAAAAAAAAAAAAAAAAAAAAAAAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52068024	GAAACCCC others(18): Show GAAACCCCGTCTCTACTAAAAATACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp2 NA19240.hp1 HG02109.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0004 a0001c0001t0001 a0001c0001t0008 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0008g0003 a0001c0002t0004g0021 a0001c0001t0001g0002 a0001c0001t0008g0003 a0001c0002t0004g0021	3	64	0.0469	-25	c.935 others(42): Show c.935+5397_935+5421delCCCCGTCTCTACTAAAAATACAAAA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161350774	TATATTTT others(18): Show TATATTTTTATATATTTATATTTAAA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	32	0.0313	-25	c.128 others(42): Show c.1286-588_1286-564delTTTAAATATAAATATATAAAAATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRLR_chr5_35050702_35235487	35194993	GTGGGGGA others(18): Show GTGGGGGAAAACGGGTATGTGGGAAC	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0035 a0001c0001t0040g0035	1	212	0.0047	-25	c.-10 others(46): Show c.-106+35250_-106+35274delGTTCCCACATACCCGTTTTCCCCC A	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	1/9			chr5	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(29): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG01167.hp2 HG01256.hp2 HG01496.hp2 HG01516.hp1 HG01981.hp2 HG02165.hp2 HG02523.hp1 HG03017.hp1 HG03669.hp2 NA18945.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18994.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19087.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	32	186	0.1720	-25	c.16 others(36): Show c.1689_*1713delTTTTTTTTTTTTTTTTTTTTTTTTT	PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding		682		chr1	TogoVar
PROSER2_chr10_11818356_11877277	11840940	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03209.hp1 NA18971.hp2 HG01167.hp2 HG03209.hp1 NA18971.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0006 a0001c0001t0001 a0003c0004t0006	a0001c0001t0001g0001 a0003c0004t0006g0158 a0003c0004t0006g0195 a0001c0001t0001g0001 a0003c0004t0006g0158 a0003c0004t0006g0195	3	334	0.0090	-25	c.-81 others(44): Show c.-81-11055_-81-11031delAAAAAAAAAAAAAAATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840942	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG02818.hp2 others(6): Show HG00323.hp1 HG01515.hp2 HG02818.hp2 HG03130.hp1 HG03486.hp1 HG03579.hp1 NA18946.hp2 NA18957.hp2 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0006 a0001c0001t0001 a0003c0004t0006	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0066 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0066 a0001c0001t0001g0118 a0001c0001t0001g0173 a0001c0001t0001g0229 a0001c0001t0001g0247 a0003c0004t0006g0097 a0003c0004t0006g0196	9	335	0.0269	-25	c.-81 others(44): Show c.-81-11053_-81-11029delAAAAAAAAAAAAATATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840944	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0194 a0003c0004t0006g0194	1	343	0.0029	-25	c.-81 others(44): Show c.-81-11051_-81-11027delAAAAAAAAAAATATATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840946	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02280.hp1 HG01515.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0258 a0001c0001t0003g0211 a0001c0001t0001g0258 a0001c0001t0003g0211	2	346	0.0058	-25	c.-81 others(44): Show c.-81-11049_-81-11025delAAAAAAAAATATATATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840948	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG03516.hp2 others(2): Show HG01074.hp1 HG01261.hp2 HG03516.hp2 HG06807.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0254 a0001c0001t0003g0212	5	344	0.0145	-25	c.-81 others(44): Show c.-81-11047_-81-11023delAAAAAAATATATATATATATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02027.hp2 others(25): Show HG00423.hp2 HG02027.hp1 HG02027.hp2 HG02109.hp1 HG02148.hp1 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp1 HG03688.hp2 HG03834.hp1 NA18956.hp2 NA18963.hp2 NA18967.hp1 NA18980.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19064.hp1 NA19067.hp2 NA19074.hp1 NA19085.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0006 a0001c0001t0001g0173 a0001c0001t0001g0186 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0002t0002g0008 a0001c0002t0002g0024 a0001c0002t0002g0066 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0210 a0001c0002t0008g0028	28	30	0.9333	-25	c.750 others(40): Show c.750-860_750-836delTTTTTTTTTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPF8_chr17_1645629_1689867	1689395	AGTAGGGG others(18): Show AGTAGGGGCGGCCGGGCAGAGGCGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	290	0.0034	-25	c.-46 others(36): Show c.-4652_-4628delGGCGCCTCTGCCCGGCCGCCCCTAC	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		4529		chr17	TogoVar
PRPH2_chr6_42691598_42727597	42705582	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02647.hp2 others(2): Show HG02145.hp2 HG02559.hp1 HG02647.hp2 NA18522.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0032	a0001c0001t0001g0047 a0001c0001t0002g0015 a0001c0001t0008g0072 others(1): Show a0001c0001t0001g0047 a0001c0001t0002g0015 a0001c0001t0008g0072 a0001c0002t0032g0335	5	383	0.0131	-25	c.582 others(40): Show c.582-996_582-972delATATATATTTTTTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705584	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG02976.hp1 others(6): Show HG01884.hp1 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0002c0004t0003	a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0128 others(6): Show a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0196 a0001c0001t0004g0127 a0001c0001t0012g0048 a0002c0004t0003g0113	9	385	0.0234	-25	c.582 others(40): Show c.582-998_582-974delATATATATATTTTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705586	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0205 a0001c0001t0012g0205	1	390	0.0026	-25	c.582 others(41): Show c.582-1000_582-976delATATATATATATTTTTTTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRR14L_chr22_31676347_31755132	31733909	CACACACA others(18): Show CACACACACACACATACACCACACAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0016 a0015c0018t0016	a0015c0018t0016g0011 a0015c0018t0016g0011	1	314	0.0032	-25	c.474 others(42): Show c.474+4453_474+4477delTTGTGTGGTGTATGTGTGTGTGTGT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding	2/8			chr22	TogoVar
PRR16_chr5_120459300_120692314	120491417	CCCTTTCC others(18): Show CCCTTTCCTTTCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp2 HG02723.hp2 others(7): Show HG01255.hp1 HG02602.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03225.hp1 HG03516.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0136 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0003g0135 a0001c0001t0004g0006 a0002c0002t0001g0169	10	83	0.1205	-25	c.159 others(44): Show c.159+26814_159+26838delCTTTCCTTTCCTTTCCTTTCCTTTC	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRRC1_chr5_127512640_127560085	127555498	GAGTGGTC others(18): Show GAGTGGTCCATAATCAATGAACAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG02896.hp1 others(6): Show HG00639.hp1 HG02486.hp2 HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03540.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022	a0001c0001t0008g0129 a0001c0001t0008g0131 a0001c0001t0008g0132 others(5): Show a0001c0001t0008g0129 a0001c0001t0008g0131 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0012g0035 a0001c0001t0012g0130 a0001c0001t0022g0050	9	338	0.0266	-25	c.35 others(36): Show c.3583_*3607delAGTGGTCCATAATCAATGAACAATA	PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding		414		chr5	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(18): Show GGTTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG01109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0076 a0001c0001t0001 a0001c0001t0076	a0001c0001t0001g0001 a0001c0001t0076g0051 a0001c0001t0001g0001 a0001c0001t0076g0051	2	169	0.0118	-25	c.28 others(36): Show c.2824_*2848delGTTTTTTTTTTTTTTTTTTTTTTTT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2824		chrX	TogoVar
PRRG4_chr11_32824927_32863120	32839724	ATTTTGAA others(18): Show ATTTTGAATATTATTAAAATATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG02976.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0032 a0002c0003t0005g0032	2	400	0.0050	-25	c.317 others(40): Show c.317-382_317-358delTTTTGAATATTATTAAAATATAGAT	PRRG4	ENSG00000135378.4	transcript	ENST00000257836.4	protein_coding	4/5			chr11	TogoVar
PRRX1_chr1_170659131_170744421	170691441	ATTTCCTT others(18): Show ATTTCCTTTCCTTTCCTTTCCTTTCC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01433.hp1 NA20129.hp1 HG00323.hp2 HG01433.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0008g0043 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0008g0043	3	108	0.0278	-25	c.241 others(44): Show c.241+27030_241+27054delTCCTTTCCTTTCCTTTCCTTTCCTT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRUNE1_chr1_151003449_151040713	151004731	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02074.hp2 HG04204.hp1 HG01516.hp2 HG02074.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0251 a0001c0001t0001g0261 a0002c0002t0001g0111 a0001c0001t0001g0251 a0001c0001t0001g0261 a0002c0002t0001g0111	3	15	0.2000	-25	c.-39 others(36): Show c.-3901_-3877delAAAATAAAATAAAATAAAATAAAAT	PRUNE1	ENSG00000143363.17	transcript	ENST00000271620.8	protein_coding		3717		chr1	TogoVar
PRUNE2_chr9_76606376_76911114	76897386	ACCTCTTT others(18): Show ACCTCTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0186 a0006c0006t0001g0186	1	238	0.0042	-25	c.36+ others(40): Show c.36+8517_36+8541delAAAAAAAAAAAAAAAAAAAAAGAGG	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2B_chr1_2581777_2596468	2582582	ATCTGGAA others(18): Show ATCTGGAATGTTGTGTGCTGTCGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	-25	c.-43 others(36): Show c.-4303_-4279delTCTGGAATGTTGTGTGCTGTCGGAG	PRXL2B	ENSG00000157870.17	transcript	ENST00000419916.8	protein_coding		4194		chr1	TogoVar
PSAT1_chr9_78292125_78335093	78306565	AAGAACCA others(18): Show AAGAACCATGGGTGTTTGAGGCCTGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	414	0.0024	-25	c.570 others(39): Show c.570+86_570+110delATGGGTGTTTGAGGCCTGCAGAACC	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18594121	AATAATAT others(18): Show AATAATATATATTATATATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03195.hp1 HG03209.hp1 others(1): Show HG01099.hp1 HG03195.hp1 HG03209.hp1 NA20129.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0014 a0002c0031 others(1): Show a0001c0001 a0001c0014 a0002c0031 a0010c0026	a0001c0001t0060 a0001c0014t0020 a0002c0031t0023 others(1): Show a0001c0001t0060 a0001c0014t0020 a0002c0031t0023 a0010c0026t0028	a0001c0001t0060g0175 a0001c0014t0020g0179 a0002c0031t0023g0193 others(1): Show a0001c0001t0060g0175 a0001c0014t0020g0179 a0002c0031t0023g0193 a0010c0026t0028g0125	4	226	0.0177	-25	c.248 others(44): Show c.2481+6218_2481+6242delATAATATATATATAATATATATTAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865262	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0224 a0004c0006t0004g0224	1	223	0.0045	-25	c.163 others(44): Show c.1634+2387_1634+2411delATATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865264	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG00738.hp1 HG01099.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0020 a0001c0014t0013 a0001c0014t0020	a0001c0014t0013g0180 a0001c0014t0020g0179 a0001c0014t0013g0180 a0001c0014t0020g0179	2	223	0.0090	-25	c.163 others(44): Show c.1634+2385_1634+2409delAAATATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865266	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0090 a0001c0001t0047g0090	1	225	0.0044	-25	c.163 others(44): Show c.1634+2383_1634+2407delAAAAATATATATATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73212088	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	44	0.0227	-25	c.112 others(42): Show c.1129+163_1129+187delTTTTTTTTTTTTTTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA4_chr15_78535444_78557417	78541177	TTTGATTC others(18): Show TTTGATTCCAGCTTACCTTTCCAGTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01346.hp2 others(15): Show HG01243.hp2 HG01255.hp2 HG01346.hp2 HG02055.hp1 HG02258.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0006 a0001c0001t0006g0097 a0001c0001t0022g0038 a0001c0001t0006g0006 a0001c0001t0006g0097 a0001c0001t0022g0038	18	428	0.0421	-25	c.-24 others(40): Show c.-24+647_-24+671delAGCTTACCTTTCCAGTCTTGATTCC	PSMA4	ENSG00000041357.16	transcript	ENST00000044462.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG02818.hp2 HG00558.hp1 HG01255.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0034 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0004g0034 a0001c0001t0005g0032 a0001c0001t0005g0033	3	4	0.7500	-25	c.-80 others(34): Show c.-807_-783delTTTTTTTTTTTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSME3IP1_chr16_57147466_57191039	57149838	CTTGTCTA others(18): Show CTTGTCTAAACTCTTGTCTAAAGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	359	0.0028	-25	c.44 others(36): Show c.4427_*4451delACTCTTTAGACAAGAGTTTAGACAA	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding		2627		chr16	TogoVar
PTBP3_chr9_112213435_112338619	112231952	GAGAAGAG others(18): Show GAGAAGAGAAGAGAAGAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19077.hp2 NA18955.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0183 a0001c0001t0002g0125 a0001c0001t0002g0183	2	336	0.0060	-25	c.102 others(42): Show c.1020+122_1020+146delTCTCTTCTCTCTTCTCTTCTCTTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112277921	CATAACAT others(18): Show CATAACATAACATAACATAACATAAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02965.hp1 HG03453.hp1 others(2): Show HG01106.hp2 HG02965.hp1 HG03453.hp1 HG03710.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0290	5	340	0.0147	-25	c.35- others(40): Show c.35-1933_35-1909delATTATGTTATGTTATGTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTCHD1_chrX_23329849_23409374	23342290	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0262 a0001c0001t0036g0262	1	295	0.0034	-25	c.351 others(42): Show c.351+7066_351+7090delATATATATATATATATATATTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342292	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG01884.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0105 a0001c0001t0010 a0001c0001t0105	a0001c0001t0010g0264 a0001c0001t0105g0263 a0001c0001t0010g0264 a0001c0001t0105g0263	2	295	0.0068	-25	c.351 others(42): Show c.351+7068_351+7092delATATATATATATATATATTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTDSS2_chr11_445279_496399	475537	CATTCACG others(18): Show CATTCACGCGTTTGTGTGTAGGACAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	344	0.0029	-25	c.367 others(42): Show c.367+1580_367+1604delGGACATATTCACGCGTTTGTGTGTA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	494148	CGCTGGGC others(18): Show CGCTGGGCTGGGCTGGGCTGGGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(1): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0169 a0002c0003t0008g0170 a0002c0003t0008g0171 others(1): Show a0002c0003t0008g0169 a0002c0003t0008g0170 a0002c0003t0008g0171 a0002c0003t0008g0172	4	189	0.0212	-25	c.35 others(36): Show c.3567_*3591delGCTGGGCTGGGCTGGGCTGGGCTGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding		2750		chr11	TogoVar

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