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
PIK3R1_chr5_68210756_68306821	68262796	C C	CGTAGATA others(21): Show CGTAGATACATGTATACATGTAGATACAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	308	0.0033	28	c.335 others(47): Show c.335-10519_335-10492dupGTAGATACATGTAGATACATGTATAC AT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(21): Show GTAGATGCATGTAGATACATGTATACATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18957.hp2 HG00673.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0040 a0001c0005t0080 a0001c0002t0040 a0001c0005t0080	a0001c0002t0040g0186 a0001c0005t0080g0026 a0001c0002t0040g0186 a0001c0005t0080g0026	2	308	0.0065	28	c.335 others(47): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(21): Show GTAGATGCATGTAGATACATGTGTACATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03017.hp1 NA18952.hp1 HG01515.hp1 HG03017.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0016 a0001c0005t0068 a0001c0005t0077 a0001c0001t0016 a0001c0005t0068 a0001c0005t0077	a0001c0001t0016g0010 a0001c0005t0068g0051 a0001c0005t0077g0076 a0001c0001t0016g0010 a0001c0005t0068g0051 a0001c0005t0077g0076	3	308	0.0097	28	c.335 others(47): Show c.335-10581_335-10580insGATGCATGTAGATACATGTGTACATA TA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(21): Show GTAGATGCATGTAGATACGTGTATACATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01192.hp1 HG00738.hp2 HG00741.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0120 a0001c0001t0022 a0001c0001t0120	a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0120g0015 a0001c0001t0022g0291 a0001c0001t0022g0292 a0001c0001t0120g0015	3	308	0.0097	28	c.335 others(47): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262964	T T	TATACATG others(21): Show TATACATGTATACATGTAGATACATGTAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0275 a0002c0003t0017g0275	1	308	0.0033	28	c.335 others(47): Show c.335-10420_335-10419insGTATACATGTAGATACATGTAGATAC AT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68263153	G G	GTACATAT others(21): Show GTACATATATCTACATATATATCTATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18747.hp2 NA19001.hp2 HG02074.hp1 NA18747.hp2 NA19001.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0085 a0002c0004t0003 a0002c0004t0085	a0002c0004t0003g0135 a0002c0004t0003g0143 a0002c0004t0085g0179 a0002c0004t0003g0135 a0002c0004t0003g0143 a0002c0004t0085g0179	3	308	0.0097	28	c.335 others(47): Show c.335-10206_335-10179dupCATATATCTACATATATATCTATATA TA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46067277	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	318	0.0031	28	c.315 others(43): Show c.315-187_315-186insTTATATATATATATATATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	318	0.0031	28	c.315 others(45): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02735.hp2 HG01106.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0051 a0001c0001t0003g0037 a0001c0001t0003g0051	2	318	0.0063	28	c.315 others(45): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp1 NA19030.hp2 HG00733.hp2 HG02109.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0017 a0001c0003t0006 a0001c0001t0003 a0001c0001t0017 a0001c0003t0006	a0001c0001t0003g0039 a0001c0001t0017g0013 a0001c0003t0006g0010 a0001c0001t0003g0039 a0001c0001t0017g0013 a0001c0003t0006g0010	3	318	0.0094	28	c.315 others(45): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0026 a0001c0001t0003g0031	2	318	0.0063	28	c.315 others(45): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTATATATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R3_chr1_46035140_46137629	46071759	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGCGAGCGAGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	318	0.0031	28	c.315 others(45): Show c.315-4669_315-4668insGCTCGCTCGCTCTCTCTCTCTCTCTCTC	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp1 NA18980.hp1 others(1): Show HG02055.hp2 HG03516.hp1 NA18980.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0192 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0003g0155	4	220	0.0182	28	c.120 others(47): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1C_chr19_3625183_3705468	3696707	C C	CGGGAGGG others(21): Show CGGGAGGGCAGGGAGGGCAGAGTGCGGAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	332	0.0030	28	c.94+ others(43): Show c.94+3562_94+3589dupCTCCGCACTCTGCCCTCCCTGCCCTCCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIP5KL1_chr9_127915881_127935777	127930215	C C	CAACGTGA others(21): Show CAACGTGAAAACTAGAACAGCTTCTTCGT	intron_variant intron_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	400	0.0025	28	c.31- others(41): Show c.31-358_31-331dupACGAAGAAGCTGTTCTAGTTTTCACGTT	PIP5KL1	ENSG00000167103.12	transcript	ENST00000388747.9	protein_coding	1/9			chr9	TogoVar
PIRT_chr17_10817470_10843087	10827465	C C	CTTTTCTT others(21): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	454	0.0022	28	c.-13 others(47): Show c.-138-1683_-138-1682insAAAAAAAAAAAAAAAAAAAAAAAGAA AA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIRT_chr17_10817470_10843087	10843041	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02895.hp1 others(2): Show HG02572.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0026 a0001c0001t0002g0225 a0001c0001t0011g0029 a0001c0001t0002g0026 a0001c0001t0002g0225 a0001c0001t0011g0029	5	454	0.0110	28	c.-52 others(39): Show c.-5236_-5235insGAAAAGAAAAGAAAAGAAAAGAAAAGAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		4955		chr17	TogoVar
PIR_chrX_15379799_15498333	15483174	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19082.hp1 HG00438.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0002t0001g0225 a0001c0001t0001g0028 a0001c0002t0001g0225	2	272	0.0074	28	c.97- others(43): Show c.97-3354_97-3353insCTATATATATATATATATATATATATAT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG00741.hp1 others(28): Show HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp1 HG02004.hp2 HG02280.hp1 HG02486.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03579.hp2 NA18906.hp1 NA18943.hp2 NA18983.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0036 a0001c0001t0041 a0001c0001t0050 a0001c0001t0058 a0001c0001t0064 a0001c0001t0070	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0183 others(28): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0183 a0001c0001t0002g0003 a0001c0001t0002g0116 a0001c0001t0003g0022 a0001c0001t0003g0030 a0001c0001t0004g0099 a0001c0001t0005g0110 a0001c0001t0005g0152 a0001c0001t0006g0125 a0001c0001t0006g0176 a0001c0001t0008g0173 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0012g0078 a0001c0001t0013g0077 a0001c0001t0013g0197 a0001c0001t0016g0001 a0001c0001t0020g0005 a0001c0001t0021g0017 a0001c0001t0024g0109 a0001c0001t0026g0203 a0001c0001t0027g0025 a0001c0001t0029g0055 a0001c0001t0036g0151 a0001c0001t0041g0215 a0001c0001t0050g0202 a0001c0001t0058g0073 a0001c0001t0064g0042 a0001c0001t0070g0032	31	218	0.1422	28	c.48+ others(45): Show c.48+35203_48+35230dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTCTTT others(21): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	218	0.0046	28	c.49- others(45): Show c.49-38616_49-38615insCTCTTTCTTTCTTTCTTTCTTTCTTTCT	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(21): Show TTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19043.hp1 HG00639.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0008 a0001c0001t0019	a0001c0001t0008g0179 a0001c0001t0019g0085 a0001c0001t0008g0179 a0001c0001t0019g0085	2	218	0.0092	28	c.49- others(45): Show c.49-38616_49-38615insCTTTCTTTTTCTTTCTTTCTTTCTTTCT	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(21): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01257.hp2 others(7): Show HG00099.hp2 HG00597.hp1 HG01257.hp2 HG03195.hp1 HG03471.hp1 HG03942.hp1 NA18522.hp1 NA18906.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0067	a0001c0001t0001g0131 a0001c0001t0002g0150 a0001c0001t0002g0189 others(7): Show a0001c0001t0001g0131 a0001c0001t0002g0150 a0001c0001t0002g0189 a0001c0001t0009g0180 a0001c0001t0012g0205 a0001c0001t0013g0121 a0001c0001t0025g0192 a0001c0001t0029g0055 a0001c0001t0031g0051 a0001c0001t0067g0031	10	218	0.0459	28	c.49- others(45): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT	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(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	218	0.0046	28	c.49- others(45): Show c.49-38613_49-38586dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0112 a0001c0001t0047g0112	1	218	0.0046	28	c.49- others(45): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599001	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0202 a0001c0001t0050g0202	1	218	0.0046	28	c.366 others(47): Show c.366+20751_366+20778dupATATATATATATATATATATATATAT AT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67629238	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02083.hp2 HG02257.hp2 others(3): Show HG01433.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG03471.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0212 a0001c0001t0004g0046 a0001c0001t0008g0214 others(3): Show a0001c0001t0001g0212 a0001c0001t0004g0046 a0001c0001t0008g0214 a0001c0001t0018g0059 a0001c0001t0021g0026 a0001c0001t0025g0192	6	218	0.0275	28	c.367 others(45): Show c.367-2904_367-2877dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG01074.hp1 others(11): Show HG00408.hp1 HG00544.hp1 HG01074.hp1 HG01169.hp2 HG01192.hp2 HG02015.hp2 HG02630.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03471.hp1 HG03490.hp1 NA19057.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0025 a0001c0001t0028 a0001c0001t0036 a0001c0001t0058 a0001c0001t0069	a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0162 others(11): Show a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0171 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0102 a0001c0001t0003g0009 a0001c0001t0025g0192 a0001c0001t0028g0068 a0001c0001t0036g0151 a0001c0001t0058g0073 a0001c0001t0069g0011	14	218	0.0642	28	c.683 others(45): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6491836	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03491.hp1 HG03492.hp1 others(1): Show HG02080.hp1 HG03491.hp1 HG03492.hp1 NA19007.hp2	a0001 a0013 a0001 a0013	a0001c0003 a0013c0037 a0001c0003 a0013c0037	a0001c0003t0032 a0001c0003t0075 a0001c0003t0098 others(1): Show a0001c0003t0032 a0001c0003t0075 a0001c0003t0098 a0013c0037t0080	a0001c0003t0032g0010 a0001c0003t0075g0216 a0001c0003t0098g0009 others(1): Show a0001c0003t0032g0010 a0001c0003t0075g0216 a0001c0003t0098g0009 a0013c0037t0080g0210	4	218	0.0184	28	c.275 others(45): Show c.275-7545_275-7544insTTATATATATATATATATATATATATAT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	4/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560766	T T	TTCCTCCT others(21): Show TTCCTCCTCCTTTCTCATTCTCCTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01884.hp2 others(9): Show HG01070.hp1 HG01099.hp1 HG01884.hp2 HG01943.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp1 HG03130.hp1 HG03688.hp2 NA18975.hp2 NA19043.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0019	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0002c0007 a0003c0008 a0019c0036	a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0029 a0001c0001t0050 a0001c0002t0058 a0001c0003t0030 a0001c0003t0077 a0001c0006t0006 a0002c0004t0038 a0002c0007t0008 a0003c0008t0002 a0019c0036t0003	a0001c0001t0002g0071 a0001c0001t0006g0035 a0001c0001t0029g0054 others(9): Show a0001c0001t0002g0071 a0001c0001t0006g0035 a0001c0001t0029g0054 a0001c0001t0050g0065 a0001c0002t0058g0024 a0001c0003t0030g0070 a0001c0003t0077g0090 a0001c0006t0006g0025 a0002c0004t0038g0033 a0002c0007t0008g0098 a0003c0008t0002g0064 a0019c0036t0003g0068	12	218	0.0551	28	c.-43 others(39): Show c.-4361_-4360insGAAGGAGGAGAATGAGAAAGGAGGAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4212		chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01071.hp2 others(27): Show HG00621.hp1 HG00642.hp1 HG01071.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02056.hp2 HG02148.hp1 HG02523.hp1 HG02615.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18983.hp1 NA18997.hp2 NA19001.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19067.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0051 a0001c0001 a0001c0002 a0001c0051	a0001c0001t0001 a0001c0002t0001 a0001c0051t0001 a0001c0001t0001 a0001c0002t0001 a0001c0051t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0125 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0051t0001g0100	30	446	0.0673	28	c.-18 others(39): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PIWIL2_chr8_22270316_22362568	22351436	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0290 a0001c0001t0003g0291	2	296	0.0068	28	c.240 others(47): Show c.2404-1520_2404-1519insTATATATATATATATATATATATATA TA	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL3_chr22_24714034_24779720	24757675	C C	CACACATA others(21): Show CACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(13): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG00741.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02148.hp1 HG02683.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0023	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0023c0026	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0023c0026t0002	a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 others(13): Show a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0002c0002t0001g0334 a0004c0004t0001g0339 a0023c0026t0002g0094	16	386	0.0415	28	c.355 others(43): Show c.355+232_355+233insAATATATACATATTTTATATATATGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24764625	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	386	0.0026	28	c.-22 others(45): Show c.-22-2132_-22-2105dupACACACACACACACACACACACACACAC	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109354156	T T	TATCAAGA others(21): Show TATCAAGAGATGTCTATAGATTAGATATC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01928.hp2 HG03942.hp1 HG01516.hp2 HG01928.hp2 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0077 a0003c0003t0002g0115 a0003c0003t0002g0053 a0003c0003t0002g0077 a0003c0003t0002g0115	3	346	0.0087	28	c.176 others(47): Show c.1764+1758_1764+1759insGATATCTAATCTATAGACATCTCTTG AT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG02074.hp1 others(2): Show HG00438.hp1 HG00544.hp1 HG02074.hp1 HG03239.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0159 a0002c0002t0001g0164 others(2): Show a0002c0002t0001g0016 a0002c0002t0001g0159 a0002c0002t0001g0164 a0002c0002t0001g0306 a0002c0002t0001g0312	5	346	0.0145	28	c.128 others(47): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD1_chr16_2083708_2140898	2104211	A A	AAGGGGGA others(21): Show AAGGGGGATAAGGGAGGGGAAGGGGGATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG06807.hp1 others(2): Show HG02109.hp2 HG03130.hp1 HG06807.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0006 a0018 a0078 others(1): Show a0006 a0018 a0078 a0099	a0006c0008 a0018c0059 a0018c0060 others(2): Show a0006c0008 a0018c0059 a0018c0060 a0078c0041 a0099c0033	a0006c0008t0002 a0018c0059t0001 a0018c0060t0002 others(2): Show a0006c0008t0002 a0018c0059t0001 a0018c0060t0002 a0078c0041t0001 a0099c0033t0002	a0006c0008t0002g0206 a0018c0059t0001g0021 a0018c0060t0002g0019 others(2): Show a0006c0008t0002g0206 a0018c0059t0001g0021 a0018c0060t0002g0019 a0078c0041t0001g0020 a0099c0033t0002g0049	5	216	0.0232	28	c.816 others(45): Show c.8161+286_8161+287insCATCCCCCTTCCCCTCCCTTATCCCCCT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100321890	G G	GGGAAGCA others(21): Show GGGAAGCAAGCAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0212 a0004c0005t0001g0212	1	306	0.0033	28	c.349 others(45): Show c.349+7320_349+7321insTTCCTTCCTTCCTTCCTTGCTTGCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321890	G G	GGGAAGGA others(21): Show GGGAAGGAAGCAAGCAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0269 a0001c0001t0001g0270	2	306	0.0065	28	c.349 others(45): Show c.349+7320_349+7321insTTCCTTCCTTCCTTGCTTGCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321894	G G	GGGAAGCA others(21): Show GGGAAGCAAGCAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 HG02451.hp2 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0015 a0004c0005 a0004c0015	a0004c0005t0001 a0004c0015t0001 a0004c0005t0001 a0004c0015t0001	a0004c0005t0001g0214 a0004c0015t0001g0213 a0004c0005t0001g0214 a0004c0015t0001g0213	2	306	0.0065	28	c.349 others(45): Show c.349+7316_349+7317insTTCCTTCCTTCCTTCCTTGCTTGCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321894	G G	GGGAGGGA others(21): Show GGGAGGGAAGGAAGCAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	306	0.0033	28	c.349 others(45): Show c.349+7316_349+7317insTTCCTTCCTTCCTTGCTTCCTTCCCTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321904	C C	CAAGGAAG others(21): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	306	0.0033	28	c.349 others(45): Show c.349+7279_349+7306dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109383424	A A	AATATATA others(21): Show AATATATAATATATAAATATATTATAAGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0049 a0049	a0049c0041 a0049c0041	a0049c0041t0022 a0049c0041t0022	a0049c0041t0022g0134 a0049c0041t0022g0134	1	282	0.0036	28	c.418 others(43): Show c.418-624_418-597dupTATAAGTATATATAATATATAAATATAT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	4/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0044 a0044	a0044c0046 a0044c0046	a0044c0046t0004 a0044c0046t0004	a0044c0046t0004g0009 a0044c0046t0004g0009	1	282	0.0036	28	c.208 others(45): Show c.2085+769_2085+770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51758012	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0015 a0004c0044t0015	a0004c0044t0015g0057 a0004c0044t0015g0057	1	134	0.0075	28	c.864 others(47): Show c.8643-3075_8643-3074insCTCTCTCTCTCTCTCTCTCTCTCTCT CT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51758014	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	134	0.0075	28	c.864 others(47): Show c.8643-3104_8643-3077dupCTCTCTCTCTCTCTCTCTCTCTCTCT CT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801639	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0004 a0004c0014t0004	a0004c0014t0004g0024 a0004c0014t0004g0024	1	134	0.0075	28	c.830 others(49): Show c.8303-10267_8303-10266insCACACACACACACACACACACACA CACA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	134	0.0075	28	c.830 others(49): Show c.8303-10282_8303-10281insTCTCACACACACACACACACACAC ACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51801654	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 NA20300.hp2 HG01071.hp1 HG01071.hp2 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0022 a0003c0015 a0004c0044 a0001c0022 a0003c0015 a0004c0044	a0001c0022t0001 a0003c0015t0001 a0004c0044t0015 a0001c0022t0001 a0003c0015t0001 a0004c0044t0015	a0001c0022t0001g0129 a0003c0015t0001g0041 a0004c0044t0015g0057 a0001c0022t0001g0129 a0003c0015t0001g0041 a0004c0044t0015g0057	3	134	0.0224	28	c.830 others(49): Show c.8303-10282_8303-10281insTCACACACACACACACACACACAC ACAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78602694	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02818.hp1 HG02004.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0029 a0001c0001t0018 a0001c0001t0029	a0001c0001t0018g0133 a0001c0001t0029g0015 a0001c0001t0018g0133 a0001c0001t0029g0015	2	186	0.0108	28	c.89 others(37): Show c.893_*894insATATATATATATATATATATATATATAT	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	4/4	894	INFO_REALIGN_3_PRIME	chr8	TogoVar
PKIB_chr6_122605405_122731373	122626073	T T	TATAGATA others(21): Show TATAGATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	312	0.0032	28	c.-16 others(47): Show c.-160-7185_-160-7184insTAGATAGATAGATAGATAGATAGATA GA	PKIB	ENSG00000135549.16	transcript	ENST00000368452.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar

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