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
PHRF1_chr11_571470_617222	575902	C C	CGTGGGGG others(33): Show CGTGGGGGCGGGGCTGCGAGGGTGGGGGCGGGGCTGCGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0009 a0001c0006t0002g0010	2	230	0.0087	40	c.-71 others(49): Show c.-712_-711insGTGGGGGCGGGGCTGCGAGGGTGGGGGCGGGGCTGC GAGG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding		567		chr11	TogoVar
PHRF1_chr11_571470_617222	609822	A A	ACCGAGGA others(33): Show ACCGAGGACAGAGCCCCCCGTGAGTAGGGCCCTGGCCCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG03579.hp1 HG02257.hp1 HG02622.hp1 HG03579.hp1	a0012 a0018 a0012 a0018	a0012c0016 a0018c0037 a0012c0016 a0018c0037	a0012c0016t0001 a0018c0037t0001 a0012c0016t0001 a0018c0037t0001	a0012c0016t0001g0070 a0012c0016t0001g0088 a0018c0037t0001g0126 a0012c0016t0001g0070 a0012c0016t0001g0088 a0018c0037t0001g0126	3	278	0.0108	40	c.426 others(57): Show c.4264+138_4264+139insCCCGCCGAGGACAGAGCCCCCCGTGAGT AGGGCCCTGGCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0077 a0001c0001t0010g0077	1	41	0.0244	40	c.50 others(51): Show c.5049_*5050insAATATATATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0069 a0001c0001t0123g0069	1	41	0.0244	40	c.50 others(51): Show c.5049_*5050insAAAATATATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	41	0.0244	40	c.50 others(51): Show c.5049_*5050insAAAAAAAATATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	41	0.0244	40	c.50 others(51): Show c.5049_*5050insAAAAAAAAAATATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46807383	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0290 a0001c0001t0009g0290	1	41	0.0244	40	c.50 others(51): Show c.5049_*5050insAAAAAAAAAAAATATATATATATATATATATATA TATATA	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	14/14	5049		chr18	TogoVar
PIBF1_chr13_72777133_73021461	72895727	A A	ATCCAGAT others(33): Show ATCCAGATTGTGAATTTTAGCTCCAGATTGTGAATTTTAGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03704.hp1 HG03654.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0055 a0001c0001t0001g0065	2	278	0.0072	40	c.148 others(59): Show c.1488+1805_1488+1806insTGTGAATTTTAGCTCCAGATTGTGAA TTTTAGCTCCAGAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	16	0.0625	40	c.148 others(59): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0002 a0013c0036t0002	a0013c0036t0002g0035 a0013c0036t0002g0035	1	4	0.2500	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATGTGTGTGTGTGTGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0047 a0002c0001t0001g0047	1	4	0.2500	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03492.hp2 HG02257.hp2 HG03492.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0090 a0001c0006 a0006c0090	a0001c0006t0001 a0006c0090t0001 a0001c0006t0001 a0006c0090t0001	a0001c0006t0001g0147 a0006c0090t0001g0135 a0001c0006t0001g0147 a0006c0090t0001g0135	2	5	0.4000	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19005.hp2 HG02257.hp1 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0009 a0001c0006 a0003c0009	a0001c0006t0001 a0003c0009t0001 a0001c0006t0001 a0003c0009t0001	a0001c0006t0001g0100 a0003c0009t0001g0081 a0001c0006t0001g0100 a0003c0009t0001g0081	2	5	0.4000	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT GTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(33): Show CACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0158 a0002c0001t0001g0158	1	4	0.2500	40	c.719 others(57): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720234	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0016 a0016	a0016c0027 a0016c0027	a0016c0027t0002 a0016c0027t0002	a0016c0027t0002g0013 a0016c0027t0002g0013	1	117	0.0085	40	c.503 others(59): Show c.5030-1976_5030-1975insTATATATATATATATATATATATATA TATATACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	C C	CATACATA others(33): Show CATACATATATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0049 a0005c0013t0001g0049	1	70	0.0143	40	c.330 others(59): Show c.330-14909_330-14908insATGTATATATATATATATATATATAT ATATATATATGTAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886353	C C	CACACACA others(33): Show CACACACACACACATATATATGTGTGTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0002 a0002c0055t0002	a0002c0055t0002g0140 a0002c0055t0002g0140	1	152	0.0066	40	c.330 others(59): Show c.330-14939_330-14938insATATATATATACACACACACATATAT ATGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTATATATATATATACACACACACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01943.hp1 others(12): Show HG00609.hp1 HG00609.hp2 HG01943.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02818.hp2 HG03139.hp2 HG03710.hp1 HG03710.hp2 NA18945.hp1 NA18970.hp1 NA18994.hp1 NA19063.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0025 a0028	a0001c0002 a0001c0006 a0001c0028 others(11): Show a0001c0002 a0001c0006 a0001c0028 a0002c0001 a0002c0023 a0002c0038 a0003c0050 a0004c0005 a0004c0049 a0006c0026 a0009c0034 a0012c0064 a0025c0043 a0028c0037	a0001c0002t0001 a0001c0006t0001 a0001c0028t0001 others(11): Show a0001c0002t0001 a0001c0006t0001 a0001c0028t0001 a0002c0001t0001 a0002c0023t0001 a0002c0038t0001 a0003c0050t0001 a0004c0005t0002 a0004c0049t0002 a0006c0026t0001 a0009c0034t0002 a0012c0064t0002 a0025c0043t0002 a0028c0037t0002	a0001c0002t0001g0155 a0001c0006t0001g0100 a0001c0006t0001g0139 others(12): Show a0001c0002t0001g0155 a0001c0006t0001g0100 a0001c0006t0001g0139 a0001c0028t0001g0034 a0002c0001t0001g0047 a0002c0023t0001g0020 a0002c0038t0001g0024 a0003c0050t0001g0056 a0004c0005t0002g0080 a0004c0049t0002g0102 a0006c0026t0001g0022 a0009c0034t0002g0069 a0012c0064t0002g0059 a0025c0043t0002g0040 a0028c0037t0002g0134	15	85	0.1765	40	c.330 others(59): Show c.330-14954_330-14953insCACACATATATGTGTGTGTGTATATA TATATATACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTATATACATATACACACACATATATATGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0012 a0012	a0012c0079 a0012c0079	a0012c0079t0002 a0012c0079t0002	a0012c0079t0002g0125 a0012c0079t0002g0125	1	71	0.0141	40	c.330 others(59): Show c.330-14954_330-14953insCACATATATATGTGTGTGTATATGTA TATACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886368	A A	ATGTGTGT others(33): Show ATGTGTGTGTGTATATATATATACACACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp2 HG02622.hp2 others(1): Show HG00639.hp1 HG02572.hp2 HG02622.hp2 HG02976.hp2	a0002 a0015 a0017 a0002 a0015 a0017	a0002c0018 a0015c0060 a0017c0016 a0002c0018 a0015c0060 a0017c0016	a0002c0018t0001 a0002c0018t0002 a0015c0060t0003 others(1): Show a0002c0018t0001 a0002c0018t0002 a0015c0060t0003 a0017c0016t0003	a0002c0018t0001g0029 a0002c0018t0002g0068 a0015c0060t0003g0078 others(1): Show a0002c0018t0001g0029 a0002c0018t0002g0068 a0015c0060t0003g0078 a0017c0016t0003g0091	4	74	0.0541	40	c.330 others(59): Show c.330-14954_330-14953insCACATATATATGTGTGTGTATATATA TATACACACACACA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10886384	A A	ATATATAC others(33): Show ATATATACACACACATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0104 a0002c0023t0002g0104	1	95	0.0105	40	c.330 others(59): Show c.330-14970_330-14969insCACACACACACACACACACATATATA TGTGTGTGTATATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIGL_chr17_16212210_16331411	16258077	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	244	0.0041	40	c.335 others(59): Show c.335+24024_335+24025insAAGAGAGAGAGAGAGAGAGAGAAAGA GAGAGAGAGAGAGA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGZ_chr3_196941356_196973833	196973703	G G	GGGAAGTG others(33): Show GGGAAGTGAGGAGCGTCTCTTCCCGGCCGCCATCCCATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	422	0.0024	40	c.-50 others(51): Show c.-5018_-5017insTAGATGGGATGGCGGCCGGGAAGAGACGCTCCTC ACTTCC	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4871		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973705	A A	AAAGTGAG others(33): Show AAAGTGAGGAGCGCCTCTTCCCGGCCGCCATCCCACCTAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02486.hp2 others(5): Show HG02055.hp1 HG02055.hp2 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03516.hp1 NA18906.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0009 a0004c0017 others(1): Show a0001c0001 a0004c0009 a0004c0017 a0006c0032	a0001c0001t0002 a0004c0009t0001 a0004c0017t0002 others(1): Show a0001c0001t0002 a0004c0009t0001 a0004c0017t0002 a0006c0032t0001	a0001c0001t0002g0287 a0004c0009t0001g0046 a0004c0009t0001g0311 others(3): Show a0001c0001t0002g0287 a0004c0009t0001g0046 a0004c0009t0001g0311 a0004c0017t0002g0040 a0006c0032t0001g0281 a0006c0032t0001g0309	8	104	0.0769	40	c.-50 others(51): Show c.-5020_-5019insCCTAGGTGGGATGGCGGCCGGGAAGAGGCGCTCC TCACTT	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4873		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973737	C C	CCGTCTAG others(33): Show CCGTCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0333 a0001c0004t0001g0333	1	417	0.0024	40	c.-50 others(51): Show c.-5052_-5051insTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCC TAGACG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4905		chr3	TogoVar
PIGZ_chr3_196941356_196973833	196973804	C C	CCGGCCGC others(33): Show CCGGCCGCCCCGTCTGGGAGGTGAGGAGCGTCTCCGCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0146 a0002c0005t0003g0146	1	421	0.0024	40	c.-51 others(51): Show c.-5119_-5118insCCGGGCGGAGACGCTCCTCACCTCCCAGACGGGG CGGCCG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding		4972		chr3	TogoVar
PIK3C3_chr18_41950234_42092830	42076103	T T	TATATATA others(33): Show TATATATATATATGCACATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0126 a0001c0001t0047g0126	1	338	0.0030	40	c.265 others(59): Show c.2650-5008_2650-5007insGCACATATATATATATATATATATGC GCATATATATATAT	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIK3CB_chr3_138647698_138839928	138693971	T T	TATATATA others(33): Show TATATATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	204	0.0049	40	c.189 others(57): Show c.1892+814_1892+815insTATATATATATATATATATATATAATAT ATATATATATAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0007 a0001c0003t0006g0007	1	260	0.0038	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0008 a0001c0003t0006g0008	1	260	0.0038	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(33): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	260	0.0038	40	c.315 others(57): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R6_chr17_8797722_8872674	8829299	C C	CACAGACA others(33): Show CACAGACACACTGACACACACGCATGCATGCATACACACAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 NA18906.hp1 HG01243.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0001g0133	3	187	0.0160	40	c.890 others(55): Show c.890-310_890-309insCTGTGTGTATGCATGCATGCGTGTGTGTCA GTGTGTCTGT	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	10/19			chr17	TogoVar
PINX1_chr8_10759961_10844875	10805443	T T	TACTAGTG others(33): Show TACTAGTGCTGAGTGGGTGGCAGAGCACAGGAAGAAGCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	241	0.0041	40	c.471 others(59): Show c.471+14710_471+14749dupGTGGCTTCTTCCTGTGCTCTGCCACC CACTCAGCACTAGT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PINX1_chr8_10759961_10844875	10806097	G G	GGGGTGAC others(33): Show GGGGTGACGGAGCACAGGAAGGGGCCACACTAGTGCTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01081.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG03490.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0006t0001	a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0006 others(23): Show a0001c0003t0001g0123 a0001c0003t0003g0003 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0109 a0001c0003t0003g0110 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0118 a0001c0003t0003g0119 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0006g0117 a0001c0003t0006g0120 a0001c0003t0006g0121 a0001c0006t0001g0089	30	231	0.1299	40	c.471 others(59): Show c.471+14095_471+14096insACTCAGCACTAGTGTGGCCCCTTCCT GTGCTCCGTCACCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP5K1C_chr19_3625183_3705468	3666717	A A	ATGCACAC others(33): Show ATGCACACACGCACGCAGGCAAACATGCACACACACAAACG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0026 a0001c0027 a0001c0026 a0001c0027	a0001c0026t0005 a0001c0027t0026 a0001c0026t0005 a0001c0027t0026	a0001c0026t0005g0324 a0001c0027t0026g0323 a0001c0026t0005g0324 a0001c0027t0026g0323	2	326	0.0061	40	c.126 others(55): Show c.126+565_126+604dupCGTTTGTGTGTGTGCATGTTTGCCTGCGTG CGTGTGTGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	2/17			chr19	TogoVar
PITHD1_chr1_23773418_23793232	23783318	T T	TATATATA others(33): Show TATATATATACACATATATGTGTATATCTACATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	370	0.0027	40	c.321 others(57): Show c.321-2331_321-2330insCTACATATATACACATATATATACACAT ATATGTGTATAT	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0068 a0001c0001t0029g0068	1	110	0.0091	40	c.48+ others(57): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(33): Show GCGCGCGCGCGCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0111 a0001c0001t0010g0111	1	180	0.0056	40	c.48+ others(57): Show c.48+46992_48+46993insGCGCGCGCGCACACACACACACACACAC ACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(33): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	58	0.0172	40	c.49- others(57): Show c.49-38616_49-38615insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTTT others(33): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01074.hp2 others(6): Show HG00323.hp1 HG00639.hp1 HG01074.hp2 HG01169.hp1 HG01358.hp1 HG01928.hp1 HG02148.hp1 HG06807.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0026 a0001c0001t0064	a0001c0001t0001g0131 a0001c0001t0003g0014 a0001c0001t0004g0186 others(6): Show a0001c0001t0001g0131 a0001c0001t0003g0014 a0001c0001t0004g0186 a0001c0001t0011g0208 a0001c0001t0012g0193 a0001c0001t0016g0040 a0001c0001t0016g0041 a0001c0001t0026g0196 a0001c0001t0064g0035	9	66	0.1364	40	c.49- others(57): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	58	0.0172	40	c.49- others(57): Show c.49-38586_49-38585insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	43	0.0233	40	c.683 others(57): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM1_chr11_67486768_67510363	67488715	C C	CCGCCTGC others(33): Show CCGCCTGCCTTGGCCTCCCGAAGTGCTAGGATTACAGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	40	c.33 others(51): Show c.3317_*3318insACGCCTGTAATCCTAGCACTTCGGGAGGCCAAGG CAGGCG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding		3052		chr11	TogoVar
PITPNM3_chr17_6446263_6561555	6463417	G G	GGGAGGGA others(33): Show GGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0053 a0002c0004t0018g0053	1	213	0.0047	40	c.230 others(57): Show c.2306+275_2306+314dupTTCCCTCCCTGCCTCCCTCCTTCCCTCC CTGCCTCCCTCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	17/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6463447	C C	CAGGGAGG others(33): Show CAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(50): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18969.hp1 NA18975.hp2 NA19007.hp1 NA19030.hp2 NA19070.hp2 NA19081.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0001c0014 a0001c0022 a0002c0005 a0002c0009 a0003c0008 a0003c0025 a0005c0019 a0005c0020	a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 others(34): Show a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0044 a0001c0002t0051 a0001c0002t0056 a0001c0002t0057 a0001c0002t0061 a0001c0003t0035 a0001c0003t0065 a0001c0007t0010 a0001c0010t0004 a0001c0010t0060 a0001c0012t0009 a0001c0014t0009 a0001c0022t0004 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0005t0029 a0002c0005t0045 a0002c0005t0052 a0002c0005t0055 a0002c0005t0078 a0002c0009t0070 a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0008t0015 a0003c0008t0076 a0003c0025t0006 a0005c0019t0004 a0005c0020t0015	a0001c0001t0048g0063 a0001c0002t0001g0060 a0001c0002t0002g0044 others(50): Show a0001c0001t0048g0063 a0001c0002t0001g0060 a0001c0002t0002g0044 a0001c0002t0002g0087 a0001c0002t0003g0114 a0001c0002t0004g0048 a0001c0002t0004g0051 a0001c0002t0004g0062 a0001c0002t0004g0069 a0001c0002t0004g0209 a0001c0002t0006g0164 a0001c0002t0009g0168 a0001c0002t0009g0197 a0001c0002t0044g0102 a0001c0002t0051g0037 a0001c0002t0056g0217 a0001c0002t0057g0019 a0001c0002t0061g0084 a0001c0003t0035g0214 a0001c0003t0065g0198 a0001c0007t0010g0167 a0001c0010t0004g0189 a0001c0010t0004g0190 a0001c0010t0060g0018 a0001c0012t0009g0032 a0001c0012t0009g0092 a0001c0014t0009g0002 a0001c0022t0004g0020 a0002c0005t0002g0073 a0002c0005t0002g0116 a0002c0005t0002g0141 a0002c0005t0002g0159 a0002c0005t0003g0097 a0002c0005t0009g0008 a0002c0005t0009g0056 a0002c0005t0029g0072 a0002c0005t0045g0117 a0002c0005t0052g0094 a0002c0005t0055g0081 a0002c0005t0078g0085 a0002c0009t0070g0003 a0003c0008t0001g0100 a0003c0008t0001g0101 a0003c0008t0002g0065 a0003c0008t0002g0088 a0003c0008t0002g0107 a0003c0008t0002g0152 a0003c0008t0003g0153 a0003c0008t0015g0119 a0003c0008t0076g0150 a0003c0025t0006g0099 a0005c0019t0004g0059 a0005c0020t0015g0086	53	153	0.3464	40	c.230 others(57): Show c.2306+284_2306+285insCCCTCCCTCCTTCCCTCCCTGCCTCCCT CCTTCCCTCCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	17/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6505195	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 NA18522.hp1 HG01884.hp2 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0002t0047 a0001c0001t0011 a0001c0002t0011 a0001c0002t0047	a0001c0001t0011g0039 a0001c0002t0011g0120 a0001c0002t0047g0023 a0001c0001t0011g0039 a0001c0002t0011g0120 a0001c0002t0047g0023	3	75	0.0400	40	c.227 others(57): Show c.227-1622_227-1621insATATATATATATATATATATATATATAT ATATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6558258	A A	AGGAAGTG others(33): Show AGGAAGTGGGGGCTAAGAAAGTTCGGTGCTTGTGGTCATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0105 a0001c0006t0006g0105	1	216	0.0046	40	c.-18 others(51): Show c.-1853_-1852insCCATGACCACAAGCACCGAACTTTCTTAGCCCCC ACTTCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		1704		chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757665	C C	CACACACA others(33): Show CACACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA21309.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0318 a0001c0001t0001g0305 a0001c0001t0001g0318	2	378	0.0053	40	c.355 others(55): Show c.355+242_355+243insAATATATACATATTTTATATATATGTGTGT GTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757669	C C	CACACACA others(33): Show CACACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02818.hp1 HG02895.hp1 HG02897.hp2 NA20129.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0045 a0008c0012t0002g0046 a0008c0012t0002g0047 others(1): Show a0008c0012t0002g0045 a0008c0012t0002g0046 a0008c0012t0002g0047 a0008c0012t0002g0048	4	377	0.0106	40	c.355 others(55): Show c.355+238_355+239insAATATATACATATTTTATATATATGTGTGT GTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(33): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02293.hp2 HG03098.hp2 others(1): Show HG01884.hp1 HG02293.hp2 HG03098.hp2 HG03139.hp1	a0002 a0009 a0020 others(1): Show a0002 a0009 a0020 a0065	a0002c0051 a0009c0145 a0020c0142 others(1): Show a0002c0051 a0009c0145 a0020c0142 a0065c0134	a0002c0051t0001 a0009c0145t0001 a0020c0142t0003 others(1): Show a0002c0051t0001 a0009c0145t0001 a0020c0142t0003 a0065c0134t0001	a0002c0051t0001g0203 a0009c0145t0001g0283 a0020c0142t0003g0234 others(1): Show a0002c0051t0001g0203 a0009c0145t0001g0283 a0020c0142t0003g0234 a0065c0134t0001g0008	4	172	0.0233	40	c.409 others(57): Show c.4093-297_4093-296insAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56			chr7	TogoVar

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