Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIP5K1B_chr9_68700240_69014176	68920359	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	220	0.0046	19	c.111 others(36): Show c.1116+638_1116+656dupTTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG01243.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0106 a0001c0002t0001g0068 a0001c0002t0001g0106	2	220	0.0091	19	c.120 others(38): Show c.1201+2411_1201+2429dupTTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIRT_chr17_10817470_10843087	10827465	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18993.hp1 HG04199.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0196 a0001c0001t0003g0170 a0001c0001t0003g0196	2	454	0.0044	19	c.-13 others(38): Show c.-138-1701_-138-1683dupAAAAAAAAAAAAAAAAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIR_chrX_15379799_15498333	15398665	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	272	0.0037	19	c.611 others(36): Show c.611-1135_611-1134insACACACACACACACACACA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15400760	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	272	0.0037	19	c.611 others(36): Show c.611-3230_611-3229insTAAATAAATAAATAAATAA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31637162	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	328	0.0031	19	c.321 others(38): Show c.321+10938_321+10939insATATATATATATATATATA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31640880	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp1 HG01192.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0069 a0001c0001t0002g0070	2	328	0.0061	19	c.321 others(36): Show c.321+7202_321+7220dupAAAAAAAAAAAAAAAAAAA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNA_chr17_1512718_1567792	1565519	A A	AATGACTA others(12): Show AATGACTAGTTAATGGGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	368	0.0027	19	c.-29 others(30): Show c.-2960_-2959insGCACCCATTAACTAGTCAT	PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding		2728		chr17	TogoVar
PITPNB_chr22_27846669_27924256	27885212	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00558.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0316 a0001c0001t0002g0267 a0001c0001t0002g0316	2	366	0.0055	19	c.456 others(36): Show c.456+9324_456+9342dupTTTTTTTTTTTTTTTTTTT	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	7/11			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67522659	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0065 a0001c0001t0076g0065	1	218	0.0046	19	c.49- others(36): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599035	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01257.hp2 HG01261.hp1 others(1): Show HG00140.hp2 HG01257.hp2 HG01261.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0118 a0001c0001t0009g0180 a0001c0001t0009g0194 others(1): Show a0001c0001t0001g0118 a0001c0001t0009g0180 a0001c0001t0009g0194 a0001c0001t0014g0016	4	218	0.0184	19	c.366 others(38): Show c.366+20778_366+20779insATATATATATATATATATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67629266	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0083 a0001c0001t0013g0083	1	218	0.0046	19	c.367 others(36): Show c.367-2877_367-2876insTGTGTGTGTGTGTGTGTGT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631645	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	218	0.0046	19	c.367 others(34): Show c.367-498_367-497insTATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631647	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0111 a0001c0001t0057g0111	1	218	0.0046	19	c.367 others(34): Show c.367-496_367-495insTATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67647464	G G	GTTTTTTT others(12): Show GTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0143 a0001c0001t0048g0143	1	218	0.0046	19	c.462 others(38): Show c.462+15234_462+15235insGTTTTTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG02647.hp2 others(3): Show HG00639.hp2 HG01891.hp1 HG02647.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0002t0018	a0001c0001t0007g0075 a0001c0001t0007g0127 a0001c0001t0008g0173 others(3): Show a0001c0001t0007g0075 a0001c0001t0007g0127 a0001c0001t0008g0173 a0001c0001t0008g0179 a0001c0001t0019g0085 a0001c0002t0018g0056	6	218	0.0275	19	c.683 others(36): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6448282	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0218 a0001c0002t0069g0218	1	218	0.0046	19	c.70 others(30): Show c.7037_*7055dupTTTTTTTTTTTTTTTTTTT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		2980		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6557760	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0015 a0002c0004t0039 a0001c0001t0015 a0002c0004t0039	a0001c0001t0015g0029 a0002c0004t0039g0217 a0001c0001t0015g0029 a0002c0004t0039g0217	2	218	0.0092	19	c.-13 others(30): Show c.-1355_-1354insAAAAAAAAAAAAAAAAAAA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		1206		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561117	C C	CCTTCCCT others(12): Show CCTTCCCTCTTCCTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 NA20300.hp1 HG03490.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0088 a0001c0001t0001 a0002c0005t0088	a0001c0001t0001g0049 a0002c0005t0088g0073 a0001c0001t0001g0049 a0002c0005t0088g0073	2	218	0.0092	19	c.-47 others(30): Show c.-4712_-4711insAGAAGGAGGAAGAGGGAAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4563		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTCCT others(12): Show CTCCTCCTCCCCCTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG04199.hp2 HG03688.hp1 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0071 a0001c0003t0021 a0001c0003t0071	a0001c0003t0021g0163 a0001c0003t0071g0161 a0001c0003t0021g0163 a0001c0003t0071g0161	2	218	0.0092	19	c.-50 others(30): Show c.-5005_-5004insAGGAAGAGGGGGAGGAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITRM1_chr10_3132728_3177782	3171160	A A	AAAAAAAC others(12): Show AAAAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0146 a0009c0034t0001g0146	1	446	0.0022	19	c.57- others(32): Show c.57-955_57-954insGTTTTTGTTTTTGTTTTTT	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	1/26			chr10	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0290 a0001c0005t0002g0290	1	446	0.0022	19	c.-18 others(30): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PIWIL1_chr12_130332887_130377637	130366785	C C	CACTAGAA others(12): Show CACTAGAAAATATATTTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01109.hp2 others(11): Show HG00099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01943.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp2 HG02976.hp1 HG03516.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0016 a0003c0007 a0009c0014	a0001c0001t0040 a0001c0001t0055 a0001c0002t0014 others(5): Show a0001c0001t0040 a0001c0001t0055 a0001c0002t0014 a0001c0004t0005 a0001c0008t0030 a0001c0016t0013 a0003c0007t0032 a0009c0014t0016	a0001c0001t0040g0115 a0001c0001t0055g0086 a0001c0002t0014g0022 others(9): Show a0001c0001t0040g0115 a0001c0001t0055g0086 a0001c0002t0014g0022 a0001c0002t0014g0023 a0001c0002t0014g0099 a0001c0002t0014g0100 a0001c0004t0005g0338 a0001c0008t0030g0105 a0001c0008t0030g0113 a0001c0016t0013g0101 a0003c0007t0032g0249 a0009c0014t0016g0089	14	425	0.0329	19	c.219 others(36): Show c.2196-346_2196-345insTAGAAAATATATTTTCTAC	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL3_chr22_24714034_24779720	24757079	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	386	0.0026	19	c.356 others(34): Show c.356-393_356-375dupTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24757098	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	386	0.0026	19	c.356 others(34): Show c.356-394_356-393insCTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02040.hp1 HG02523.hp2 others(3): Show HG01109.hp1 HG02040.hp1 HG02523.hp2 HG04228.hp1 NA18981.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0238 others(3): Show a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0351	6	386	0.0155	19	c.103 others(34): Show c.103-810_103-792dupTTTTTTTTTTTTTTTTTTT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20			chr22	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20905.hp1 HG02723.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0006 a0002c0002t0012g0029 a0002c0002t0001g0006 a0002c0002t0012g0029	2	346	0.0058	19	c.128 others(38): Show c.1284-4178_1284-4160dupTTTTTTTTTTTTTTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47880284	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0016 a0032 a0016 a0032	a0016c0022 a0032c0141 a0016c0022 a0032c0141	a0016c0022t0001 a0032c0141t0001 a0016c0022t0001 a0032c0141t0001	a0016c0022t0001g0230 a0032c0141t0001g0235 a0016c0022t0001g0230 a0032c0141t0001g0235	2	306	0.0065	19	c.352 others(36): Show c.3520+443_3520+444insAAAAAAAAAAAAAAATATA	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56			chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71953400	A A	AAGAGATT others(12): Show AAGAGATTTAATTGACTCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0039 a0039	a0039c0054 a0039c0054	a0039c0054t0001 a0039c0054t0001	a0039c0054t0001g0067 a0039c0054t0001g0067	1	308	0.0033	19	c.281 others(36): Show c.2810-308_2810-307insGTGAGTCAATTAAATCTCT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	17/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71953400	A A	AAGAGGTT others(12): Show AAGAGGTTTAATTGACTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(235): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(36): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0028 a0029 a0030 a0031 a0033 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0046 a0048 a0051 a0052 a0053 a0054 a0056 a0057	a0001c0001 a0001c0028 a0001c0062 others(58): Show a0001c0001 a0001c0028 a0001c0062 a0001c0065 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0002c0002 a0002c0044 a0004c0005 a0004c0009 a0004c0040 a0004c0041 a0004c0042 a0004c0043 a0005c0003 a0007c0007 a0008c0008 a0008c0032 a0009c0013 a0009c0025 a0009c0026 a0010c0011 a0012c0010 a0014c0082 a0014c0083 a0014c0084 a0014c0085 a0014c0086 a0015c0015 a0016c0017 a0017c0019 a0017c0023 a0018c0018 a0019c0027 a0020c0052 a0020c0055 a0021c0024 a0022c0021 a0024c0020 a0028c0071 a0029c0064 a0030c0063 a0031c0061 a0033c0073 a0037c0080 a0038c0060 a0040c0056 a0041c0045 a0042c0050 a0043c0047 a0044c0048 a0046c0046 a0048c0058 a0051c0037 a0052c0038 a0053c0035 a0054c0034 a0056c0031 a0057c0030	a0001c0001t0001 a0001c0028t0001 a0001c0062t0001 others(61): Show a0001c0001t0001 a0001c0028t0001 a0001c0062t0001 a0001c0065t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0002c0002t0001 a0002c0044t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0004c0009t0001 a0004c0040t0001 a0004c0041t0001 a0004c0042t0001 a0004c0043t0001 a0005c0003t0001 a0007c0007t0001 a0007c0007t0002 a0008c0008t0001 a0008c0032t0001 a0009c0013t0001 a0009c0025t0001 a0009c0026t0001 a0010c0011t0001 a0012c0010t0001 a0014c0082t0001 a0014c0083t0001 a0014c0084t0001 a0014c0085t0001 a0014c0086t0001 a0015c0015t0001 a0016c0017t0001 a0017c0019t0001 a0017c0023t0001 a0018c0018t0001 a0019c0027t0001 a0020c0052t0001 a0020c0055t0002 a0021c0024t0001 a0022c0021t0001 a0024c0020t0001 a0028c0071t0001 a0029c0064t0001 a0030c0063t0003 a0031c0061t0001 a0033c0073t0001 a0037c0080t0001 a0038c0060t0002 a0040c0056t0001 a0041c0045t0001 a0042c0050t0001 a0043c0047t0001 a0044c0048t0001 a0046c0046t0001 a0048c0058t0001 a0051c0037t0001 a0052c0038t0001 a0053c0035t0001 a0054c0034t0001 a0056c0031t0001 a0057c0030t0001	a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(235): Show a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0028t0001g0260 a0001c0028t0001g0263 a0001c0062t0001g0043 a0001c0065t0001g0188 a0001c0067t0001g0201 a0001c0068t0001g0176 a0001c0069t0001g0210 a0001c0070t0001g0186 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0117 a0002c0002t0001g0145 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0044t0001g0089 a0004c0005t0001g0057 a0004c0005t0001g0074 a0004c0005t0001g0125 a0004c0005t0001g0126 a0004c0005t0001g0127 a0004c0005t0001g0128 a0004c0005t0001g0131 a0004c0005t0001g0136 a0004c0005t0002g0295 a0004c0005t0002g0296 a0004c0005t0002g0297 a0004c0005t0004g0308 a0004c0009t0001g0060 a0004c0009t0001g0061 a0004c0009t0001g0069 a0004c0009t0001g0085 a0004c0009t0001g0106 a0004c0009t0001g0109 a0004c0009t0001g0114 a0004c0009t0001g0115 a0004c0009t0001g0118 a0004c0009t0001g0273 a0004c0040t0001g0135 a0004c0041t0001g0124 a0004c0042t0001g0107 a0004c0043t0001g0137 a0005c0003t0001g0148 a0005c0003t0001g0150 a0005c0003t0001g0151 a0005c0003t0001g0152 a0005c0003t0001g0160 a0005c0003t0001g0161 a0005c0003t0001g0162 a0005c0003t0001g0164 a0005c0003t0001g0165 a0005c0003t0001g0166 a0005c0003t0001g0167 a0005c0003t0001g0169 a0005c0003t0001g0170 a0005c0003t0001g0171 a0005c0003t0001g0173 a0005c0003t0001g0174 a0005c0003t0001g0183 a0005c0003t0001g0193 a0005c0003t0001g0194 a0005c0003t0001g0195 a0005c0003t0001g0230 a0005c0003t0001g0241 a0005c0003t0001g0257 a0005c0003t0001g0258 a0005c0003t0001g0283 a0007c0007t0001g0123 a0007c0007t0001g0143 a0007c0007t0002g0294 a0007c0007t0002g0299 a0007c0007t0002g0300 a0007c0007t0002g0301 a0007c0007t0002g0303 a0007c0007t0002g0304 a0007c0007t0002g0305 a0007c0007t0002g0306 a0007c0007t0002g0307 a0008c0008t0001g0004 a0008c0008t0001g0005 a0008c0008t0001g0007 a0008c0008t0001g0013 a0008c0008t0001g0017 a0008c0008t0001g0019 a0008c0008t0001g0026 a0008c0008t0001g0027 a0008c0008t0001g0028 a0008c0008t0001g0029 a0008c0032t0001g0008 a0009c0013t0001g0075 a0009c0013t0001g0076 a0009c0013t0001g0110 a0009c0013t0001g0111 a0009c0013t0001g0112 a0009c0025t0001g0133 a0009c0025t0001g0134 a0009c0026t0001g0053 a0009c0026t0001g0116 a0010c0011t0001g0153 a0010c0011t0001g0154 a0010c0011t0001g0155 a0010c0011t0001g0156 a0010c0011t0001g0227 a0010c0011t0001g0249 a0010c0011t0001g0250 a0012c0010t0001g0096 a0012c0010t0001g0097 a0012c0010t0001g0098 a0012c0010t0001g0099 a0012c0010t0001g0100 a0012c0010t0001g0102 a0012c0010t0001g0105 a0014c0082t0001g0292 a0014c0083t0001g0289 a0014c0084t0001g0288 a0014c0085t0001g0290 a0014c0086t0001g0291 a0015c0015t0001g0048 a0015c0015t0001g0168 a0015c0015t0001g0253 a0015c0015t0001g0255 a0015c0015t0001g0259 a0016c0017t0001g0178 a0016c0017t0001g0179 a0016c0017t0001g0180 a0016c0017t0001g0181 a0017c0019t0001g0012 a0017c0019t0001g0015 a0017c0023t0001g0024 a0017c0023t0001g0025 a0018c0018t0001g0275 a0018c0018t0001g0284 a0018c0018t0001g0285 a0019c0027t0001g0198 a0019c0027t0001g0246 a0020c0052t0001g0113 a0020c0055t0002g0298 a0021c0024t0001g0122 a0021c0024t0001g0132 a0022c0021t0001g0002 a0022c0021t0001g0016 a0024c0020t0001g0022 a0024c0020t0001g0023 a0028c0071t0001g0282 a0029c0064t0001g0248 a0030c0063t0003g0293 a0031c0061t0001g0047 a0033c0073t0001g0182 a0037c0080t0001g0172 a0038c0060t0002g0302 a0040c0056t0001g0121 a0041c0045t0001g0103 a0042c0050t0001g0268 a0043c0047t0001g0066 a0044c0048t0001g0082 a0046c0046t0001g0081 a0048c0058t0001g0144 a0051c0037t0001g0011 a0052c0038t0001g0018 a0053c0035t0001g0014 a0054c0034t0001g0006 a0056c0031t0001g0030 a0057c0030t0001g0031	238	308	0.7727	19	c.281 others(36): Show c.2810-308_2810-307insGTGAGTCAATTAAACCTCT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	17/29			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104181	A A	AAAGGGAG others(12): Show AAAGGGAGGGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02647.hp2 HG02886.hp1 others(5): Show HG00323.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03453.hp2 HG03492.hp2 HG04184.hp1	a0001 a0005 a0015 others(2): Show a0001 a0005 a0015 a0027 a0055	a0001c0001 a0005c0018 a0015c0047 others(3): Show a0001c0001 a0005c0018 a0015c0047 a0015c0059 a0027c0045 a0055c0113	a0001c0001t0001 a0005c0018t0001 a0015c0047t0009 others(3): Show a0001c0001t0001 a0005c0018t0001 a0015c0047t0009 a0015c0059t0009 a0027c0045t0002 a0055c0113t0002	a0001c0001t0001g0093 a0001c0001t0001g0121 a0005c0018t0001g0154 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0121 a0005c0018t0001g0154 a0005c0018t0001g0185 a0015c0047t0009g0017 a0015c0059t0009g0018 a0027c0045t0002g0207 a0055c0113t0002g0211	8	216	0.0370	19	c.816 others(36): Show c.8161+298_8162-287dupATCCCCCTTCCCCTCCCTT	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104469	C C	CGGGCCAC others(12): Show CGGGCCACGTGGGGCGGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0051 a0058 a0051 a0058	a0051c0051 a0058c0055 a0051c0051 a0058c0055	a0051c0051t0002 a0058c0055t0002 a0051c0051t0002 a0058c0055t0002	a0051c0051t0002g0193 a0058c0055t0002g0191 a0051c0051t0002g0193 a0058c0055t0002g0191	2	216	0.0093	19	c.816 others(34): Show c.8161+28_8161+29insCGCCCGCCCCACGTGGCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100320690	A A	AAGGCAAG others(12): Show AAGGCAAGTAAATTAATGTG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	306	0.0033	19	c.349 others(36): Show c.349+8502_349+8520dupCACATTAATTTACTTGCCT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321756	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	306	0.0033	19	c.349 others(36): Show c.349+7454_349+7455insCCTCCTTTCTTTCTTTCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 HG02895.hp1 HG03486.hp1	a0007 a0008 a0007 a0008	a0007c0008 a0008c0007 a0007c0008 a0008c0007	a0007c0008t0020 a0008c0007t0006 a0007c0008t0020 a0008c0007t0006	a0007c0008t0020g0052 a0008c0007t0006g0012 a0007c0008t0020g0052 a0008c0007t0006g0012	2	282	0.0071	19	c.208 others(36): Show c.2085+751_2085+769dupTTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109487942	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	282	0.0036	19	c.988 others(38): Show c.9880+1122_9880+1123insGGAAGGAAGGAAGGAAGGA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	59/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109538047	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG03453.hp1 others(2): Show HG01243.hp1 HG02145.hp1 HG03453.hp1 HG03471.hp2 NA20300.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0013 a0007c0008t0001 a0007c0008t0019 others(1): Show a0002c0002t0013 a0007c0008t0001 a0007c0008t0019 a0007c0008t0020	a0002c0002t0013g0113 a0007c0008t0001g0090 a0007c0008t0019g0089 others(2): Show a0002c0002t0013g0113 a0007c0008t0001g0090 a0007c0008t0019g0089 a0007c0008t0019g0091 a0007c0008t0020g0092	5	282	0.0177	19	c.79 others(30): Show c.7957_*7958insTTTTTTTTTTTTTTTTTTT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding		841		chr8	TogoVar
PKHD1_chr6_51610299_52092613	51627154	G G	GATAAAAA others(12): Show GATAAAAAGAACATTTTTAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02622.hp1 others(5): Show HG01175.hp1 HG02280.hp1 HG02622.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp2	a0018 a0027 a0029 others(5): Show a0018 a0027 a0029 a0033 a0041 a0042 a0045 a0048	a0018c0052 a0027c0069 a0029c0070 others(5): Show a0018c0052 a0027c0069 a0029c0070 a0033c0059 a0041c0088 a0042c0035 a0045c0084 a0048c0023	a0018c0052t0006 a0027c0069t0018 a0029c0070t0008 others(5): Show a0018c0052t0006 a0027c0069t0018 a0029c0070t0008 a0033c0059t0008 a0041c0088t0006 a0042c0035t0006 a0045c0084t0006 a0048c0023t0017	a0018c0052t0006g0086 a0027c0069t0018g0092 a0029c0070t0008g0090 others(5): Show a0018c0052t0006g0086 a0027c0069t0018g0092 a0029c0070t0008g0090 a0033c0059t0008g0001 a0041c0088t0006g0114 a0042c0035t0006g0059 a0045c0084t0006g0087 a0048c0023t0017g0081	8	134	0.0597	19	c.116 others(36): Show c.11666-39_11666-38insATAAAAATGTTCTTTTTAT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	65/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01952.hp1 NA20300.hp2 HG01175.hp2 HG01952.hp1 NA20300.hp2	a0003 a0023 a0003 a0023	a0003c0007 a0003c0015 a0023c0044 a0003c0007 a0003c0015 a0023c0044	a0003c0007t0001 a0003c0015t0001 a0023c0044t0001 a0003c0007t0001 a0003c0015t0001 a0023c0044t0001	a0003c0007t0001g0043 a0003c0015t0001g0041 a0023c0044t0001g0044 a0003c0007t0001g0043 a0003c0015t0001g0041 a0023c0044t0001g0044	3	134	0.0224	19	c.590 others(38): Show c.5908+9649_5908+9650insATATATATATATATTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18988.hp2 HG00741.hp2 NA18988.hp2	a0003 a0012 a0003 a0012	a0003c0007 a0012c0027 a0003c0007 a0012c0027	a0003c0007t0001 a0012c0027t0002 a0003c0007t0001 a0012c0027t0002	a0003c0007t0001g0037 a0012c0027t0002g0005 a0003c0007t0001g0037 a0012c0027t0002g0005	2	134	0.0149	19	c.590 others(38): Show c.5908+9649_5908+9650insATATATATATATATATTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51976944	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03225.hp1 HG03225.hp2 others(1): Show HG00741.hp1 HG03225.hp1 HG03225.hp2 HG06807.hp2	a0001 a0024 a0025 others(1): Show a0001 a0024 a0025 a0028	a0001c0001 a0024c0068 a0025c0072 others(1): Show a0001c0001 a0024c0068 a0025c0072 a0028c0071	a0001c0001t0001 a0024c0068t0001 a0025c0072t0001 others(1): Show a0001c0001t0001 a0024c0068t0001 a0025c0072t0001 a0028c0071t0012	a0001c0001t0001g0062 a0024c0068t0001g0091 a0025c0072t0001g0095 others(1): Show a0001c0001t0001g0062 a0024c0068t0001g0091 a0025c0072t0001g0095 a0028c0071t0012g0093	4	134	0.0299	19	c.575 others(40): Show c.5752-16937_5752-16919dupTTTTTTTTTTTTTTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKLR_chr1_155284293_155306438	155299491	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	311	0.0032	19	c.283 others(34): Show c.283+588_283+606dupAAAAAAAAAAAAAAAAAAA	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKN1_chr19_14428306_14476859	14442065	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02300.hp1 HG02615.hp2 HG01255.hp1 HG02300.hp1 HG02615.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0003c0044 a0007c0014 a0001c0004 a0003c0044 a0007c0014	a0001c0004t0001 a0003c0044t0002 a0007c0014t0001 a0001c0004t0001 a0003c0044t0002 a0007c0014t0001	a0001c0004t0001g0344 a0003c0044t0002g0166 a0007c0014t0001g0343 a0001c0004t0001g0344 a0003c0044t0002g0166 a0007c0014t0001g0343	3	376	0.0080	19	c.322 others(34): Show c.322+627_322+645dupTTTTTTTTTTTTTTTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN1_chr19_14428306_14476859	14447363	T T	TGGGCTTA others(12): Show TGGGCTTATCAGGCACTTGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0236 a0002c0001t0001g0236	1	376	0.0027	19	c.610 others(34): Show c.610+804_610+805insGCTTATCAGGCACTTGAGG	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN1_chr19_14428306_14476859	14470944	T T	TGCCTCAA others(12): Show TGCCTCAAGGGCCTCGTTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02559.hp1 others(19): Show HG02145.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 HG03579.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0003 a0004 a0013 others(1): Show a0003 a0004 a0013 a0016	a0003c0003 a0003c0006 a0003c0010 others(4): Show a0003c0003 a0003c0006 a0003c0010 a0003c0028 a0004c0024 a0013c0027 a0016c0023	a0003c0003t0001 a0003c0006t0001 a0003c0010t0001 others(4): Show a0003c0003t0001 a0003c0006t0001 a0003c0010t0001 a0003c0028t0001 a0004c0024t0001 a0013c0027t0001 a0016c0023t0001	a0003c0003t0001g0241 a0003c0003t0001g0366 a0003c0006t0001g0029 others(19): Show a0003c0003t0001g0241 a0003c0003t0001g0366 a0003c0006t0001g0029 a0003c0006t0001g0030 a0003c0006t0001g0031 a0003c0006t0001g0032 a0003c0006t0001g0033 a0003c0006t0001g0107 a0003c0006t0001g0210 a0003c0006t0001g0234 a0003c0006t0001g0296 a0003c0006t0001g0365 a0003c0010t0001g0035 a0003c0010t0001g0227 a0003c0010t0001g0228 a0003c0010t0001g0229 a0003c0010t0001g0230 a0003c0010t0001g0231 a0003c0028t0001g0355 a0004c0024t0001g0108 a0013c0027t0001g0034 a0016c0023t0001g0242	22	376	0.0585	19	c.262 others(36): Show c.2625+113_2625+131dupGCCTCAAGGGCCTCGTTGC	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN3_chr9_128697503_128725916	128701941	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	360	0.0028	19	c.-97 others(28): Show c.-975_-974insTTTTTTTTTTTTTTTTTTT	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding		561		chr9	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01074.hp1 others(15): Show HG00408.hp1 HG00408.hp2 HG01074.hp1 HG01081.hp2 HG02683.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 NA18944.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18983.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19066.hp2 NA19084.hp1	a0001 a0009 a0016 a0001 a0009 a0016	a0001c0001 a0009c0012 a0016c0024 a0001c0001 a0009c0012 a0016c0024	a0001c0001t0001 a0001c0001t0004 a0009c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0009c0012t0001 a0016c0024t0001	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0101 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0004g0258 a0009c0012t0001g0122 a0016c0024t0001g0006	18	360	0.0500	19	c.198 others(36): Show c.1985+202_1985+220dupTTTTTTTTTTTTTTTTTTT	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987402	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01175.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0046 a0001c0001t0004g0047	2	362	0.0055	19	c.-57 others(38): Show c.-57+12738_-57+12739insTATATATATATATATATAT	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10			chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43029424	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0332 a0001c0002t0052g0332	1	362	0.0028	19	c.110 others(36): Show c.1100-463_1100-445dupTTTTTTTTTTTTTTTTTTT	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP2_chr12_32785755_32901777	32855773	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	342	0.0029	19	c.117 others(38): Show c.1171-4819_1171-4801dupTTTTTTTTTTTTTTTTTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar

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