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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PIGX_chr3_196707377_196741007	196735294	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0170 a0001c0001t0047g0170	1	416	0.0024	25	c.13 others(36): Show c.1398_*1422dupAAAAAAAAAAAAAAAAAAAAAAAAA		PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	6/6				1423	INFO_REALIGN_3_PRIME	chr3	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	384	0.0026	25	c.18 others(34): Show c.185_*186insATATATATATATATTTTTTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	384	0.0026	25	c.18 others(34): Show c.185_*186insATATATATATATATATATTTTTTTT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG01192.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	384	0.0052	25	c.18 others(34): Show c.185_*186insATATATATATATATATATATATATT		PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding					112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96711739	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0075 a0002c0005t0002g0075	1	256	0.0039	25	c.14- others(40): Show c.14-1781_14-1757dupAAAAAAAAAAAAAAAAAAAAAAAAA		PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	1/16						chr10	TogoVar
PIK3C2A_chr11_17081575_17212986	17193847	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18949.hp2 NA18950.hp2 HG03139.hp2 NA18949.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0229 a0001c0002t0001g0261 a0001c0002t0001g0203 a0001c0002t0001g0229 a0001c0002t0001g0261	3	342	0.0088	25	c.-66 others(44): Show c.-66+13976_-66+14000dupCTTTTCTTTTCTTTTCTTTTCTTTT		PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32						chr11	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	C C	CATGGCTT others(18): Show CATGGCTTCACTGGTATTCTCACATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02559.hp2 others(2): Show HG01891.hp2 HG02280.hp1 HG02559.hp2 HG02922.hp1 HG03516.hp2	a0001 a0015 a0001 a0015	a0001c0003 a0001c0008 a0015c0039 a0001c0003 a0001c0008 a0015c0039	a0001c0003t0002 a0001c0003t0012 a0001c0008t0003 others(2): Show a0001c0003t0002 a0001c0003t0012 a0001c0008t0003 a0001c0008t0014 a0015c0039t0003	a0001c0003t0002g0267 a0001c0003t0012g0234 a0001c0008t0003g0010 others(2): Show a0001c0003t0002g0267 a0001c0003t0012g0234 a0001c0008t0003g0010 a0001c0008t0014g0259 a0015c0039t0003g0262	5	302	0.0166	25	c.-84 others(42): Show c.-84-1197_-84-1173dupCATGTGAGAATACCAGTGAAGCCAT		PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32						chr1	TogoVar
PIK3CG_chr7_106860282_106913980	106877612	C C	CTGTTTTG others(18): Show CTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	378	0.0027	25	c.239 others(44): Show c.2392-1900_2392-1876dupGTTTTGTTTTGTTTTGTTTTGTTTT		PIK3CG	ENSG00000105851.11	transcript	ENST00000496166.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
PIK3R2_chr19_18148163_18175532	18159144	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 NA18948.hp1 others(1): Show HG00609.hp1 HG00673.hp1 NA18948.hp1 NA18994.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0021 a0002c0003t0001 a0002c0003t0021	a0002c0003t0001g0027 a0002c0003t0001g0067 a0002c0003t0001g0077 others(1): Show a0002c0003t0001g0027 a0002c0003t0001g0067 a0002c0003t0001g0077 a0002c0003t0021g0027	4	334	0.0120	25	c.323 others(42): Show c.323-1308_323-1307insTTTTTTTTTTTTTTTTTTTTTTTTT		PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46043761	T T	TGGTAATG others(18): Show TGGTAATGGAGCACTAGCTCCTTCAG	frameshift_variant frameshift_variant	HIGH	NA18959.hp1 NA18959.hp1	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0005 a0000c0006t0005	a0000c0006t0005g0014 a0000c0006t0005g0014	1	318	0.0031	25	c.127 others(34): Show c.1273_1297dupCTGAAGGAGCTAGTGCTCCATTACC	p.Gln others(5): Show p.Gln433fs	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	10/10	1974/5596	1297/1386	433/461			chr1	TogoVar
PIM1_chr6_37165152_37180428	37179351	A A	ATAATATA others(18): Show ATAATATAATATATAATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	414	0.0024	25	c.52 others(36): Show c.5260_*5261insTAATATAATATATAATATATATTAT		PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding					3924		chr6	TogoVar
PIP4K2A_chr10_22529854_22719578	22596205	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	206	0.0049	25	c.340 others(42): Show c.340-4425_340-4424insTTTTTTTTTTTTTTTTTTTTTTTTT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9						chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22601130	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	206	0.0049	25	c.339 others(42): Show c.339+6772_339+6796dupTTTTTTTTTTTTTTTTTTTTTTTTT		PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9						chr10	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1 HG01934.hp1 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0020g0223 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0020g0223	3	334	0.0090	25	c.33 others(36): Show c.3395_*3396insAAAAAAAAAAAAAAAAAAAAAAAAA		PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding					1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01346.hp2 others(11): Show HG00438.hp1 HG01175.hp1 HG01346.hp2 HG01516.hp2 HG02735.hp1 HG02896.hp1 HG03209.hp2 HG03669.hp1 HG03834.hp2 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0083 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0112 a0001c0001t0002g0159 a0001c0001t0002g0180 a0001c0001t0002g0191 a0001c0001t0002g0218 a0001c0001t0003g0139 a0001c0001t0005g0063 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0002t0001g0052 a0001c0002t0003g0136	14	220	0.0636	25	c.120 others(44): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTT		PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr9	TogoVar
PIRT_chr17_10817470_10843087	10842931	T T	TGCTGGAA others(18): Show TGCTGGAACTGGTTACTGAGCCAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	454	0.0022	25	c.-51 others(36): Show c.-5126_-5125insTTTTGGCTCAGTAACCAGTTCCAGC		PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding					4845		chr17	TogoVar
PIR_chrX_15379799_15498333	15486298	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00597.hp1 others(19): Show HG00140.hp1 HG00438.hp2 HG00597.hp1 HG01167.hp1 HG01257.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18956.hp1 NA18978.hp2 NA18990.hp1 NA19006.hp1 NA19062.hp1 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0002c0003t0003 a0004c0005t0007	a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0079 others(19): Show a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0003g0096 a0001c0002t0001g0019 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0094 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0003g0093 a0001c0002t0005g0007 a0002c0003t0003g0020 a0002c0003t0003g0095 a0004c0005t0007g0270	22	272	0.0809	25	c.96+ others(40): Show c.96+4863_96+4864insTTTTTTTTTTTTTTTTTTTTTTTTT		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9						chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67502744	C C	CATTGCAT others(18): Show CATTGCATTGTATTGTATTGTATTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03139.hp1 HG02280.hp2 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0058 a0001c0001t0007 a0001c0001t0010 a0001c0001t0058	a0001c0001t0007g0107 a0001c0001t0010g0114 a0001c0001t0058g0073 a0001c0001t0007g0107 a0001c0001t0010g0114 a0001c0001t0058g0073	3	218	0.0138	25	c.49- others(42): Show c.49-30054_49-30053insCATTGTATTGTATTGTATTGTATTG		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(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp2 HG02647.hp2 others(6): Show HG00280.hp1 HG02280.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0028 a0001c0001t0030	a0001c0001t0005g0181 a0001c0001t0007g0107 a0001c0001t0007g0127 others(6): Show a0001c0001t0005g0181 a0001c0001t0007g0107 a0001c0001t0007g0127 a0001c0001t0010g0114 a0001c0001t0013g0197 a0001c0001t0017g0054 a0001c0001t0019g0101 a0001c0001t0028g0068 a0001c0001t0030g0058	9	218	0.0413	25	c.49- others(42): Show c.49-10129_49-10128insTTTTTTTTTTTTTTTTTTTTTTTTT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp2 others(12): Show HG00140.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02258.hp1 HG03195.hp1 HG06807.hp2 NA18943.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0001t0043 a0001c0001t0072 a0001c0002t0018	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0075 others(12): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0075 a0001c0001t0009g0206 a0001c0001t0012g0004 a0001c0001t0014g0019 a0001c0001t0015g0012 a0001c0001t0016g0001 a0001c0001t0018g0059 a0001c0001t0023g0115 a0001c0001t0026g0178 a0001c0001t0029g0055 a0001c0001t0043g0105 a0001c0001t0072g0064 a0001c0002t0018g0056	15	218	0.0688	25	c.367 others(44): Show c.367-10941_367-10917dupTTTTATTTTATTTTATTTTATTTTA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631645	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0218 a0001c0001t0014g0218	1	218	0.0046	25	c.367 others(40): Show c.367-498_367-497insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631647	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG02809.hp2 HG01358.hp2 HG01361.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0040g0095 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0040g0095	3	218	0.0138	25	c.367 others(40): Show c.367-496_367-495insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631653	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03453.hp1 HG01358.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0076 a0001c0001t0011g0208 a0001c0001t0006g0076 a0001c0001t0011g0208	2	218	0.0092	25	c.367 others(40): Show c.367-490_367-489insTATATATATATATATATATATATAT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8						chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01243.hp2 others(13): Show HG00438.hp2 HG00597.hp2 HG01243.hp2 HG01993.hp1 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18969.hp1 NA18971.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 a0001c0001t0026 a0001c0001t0053 a0001c0001t0059	a0001c0001t0003g0028 a0001c0001t0004g0046 a0001c0001t0004g0129 others(13): Show a0001c0001t0003g0028 a0001c0001t0004g0046 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0148 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0015g0012 a0001c0001t0015g0024 a0001c0001t0015g0027 a0001c0001t0023g0184 a0001c0001t0026g0178 a0001c0001t0053g0185 a0001c0001t0059g0098	16	218	0.0734	25	c.683 others(42): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAA		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123029988	A A	ACAGACAC others(18): Show ACAGACACCCACAAAGAGGTGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00673.hp2 others(57): Show HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp1 NA19082.hp1 NA19090.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0015 a0003c0024 others(1): Show a0001c0001 a0001c0015 a0003c0024 a0009c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0015t0002 a0003c0024t0002 a0009c0023t0002	a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0002g0003 others(56): Show a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0002g0003 a0001c0001t0002g0033 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0010g0177 a0001c0015t0002g0185 a0003c0024t0002g0198 a0009c0023t0002g0149	60	230	0.2609	25	c.78+ others(40): Show c.78+4500_78+4524dupCCTTCCACCTCTTTGTGGGTGTCTG		PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	3/25						chr12	TogoVar
PITPNM2_chr12_122978480_123156090	123141549	A A	AGAAGAGC others(18): Show AGAAGAGCAGCCGTCTCCTGGAGAGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	230	0.0044	25	c.-20 others(44): Show c.-200+9179_-200+9203dupCCTCTCCAGGAGACGGCTGCTCTTC		PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	1/25						chr12	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGCAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02280.hp2 HG03225.hp2 HG02280.hp2 HG03225.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0001 a0009c0034t0001	a0009c0034t0001g0145 a0009c0034t0001g0146 a0009c0034t0001g0145 a0009c0034t0001g0146	2	446	0.0045	25	c.271 others(32): Show c.271_272insCATTGCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037			chr10	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0014c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0014c0036t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(208): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0309 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0041 a0001c0005t0002g0042 a0001c0005t0002g0126 a0001c0005t0002g0127 a0001c0005t0002g0236 a0001c0005t0002g0237 a0001c0005t0002g0238 a0001c0005t0002g0285 a0001c0005t0002g0287 a0001c0005t0002g0289 a0001c0005t0002g0290 a0001c0005t0002g0292 a0001c0005t0002g0293 a0001c0005t0002g0294 a0001c0005t0002g0295 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0005t0002g0301 a0001c0005t0002g0302 a0001c0005t0002g0304 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0307 a0001c0009t0001g0018 a0001c0009t0001g0079 a0001c0009t0001g0111 a0001c0009t0001g0129 a0001c0009t0001g0130 a0001c0009t0001g0132 a0001c0011t0001g0054 a0001c0011t0001g0056 a0001c0011t0001g0057 a0001c0011t0001g0069 a0001c0011t0001g0143 a0001c0011t0003g0078 a0001c0012t0001g0019 a0001c0012t0001g0128 a0001c0012t0001g0135 a0001c0012t0001g0136 a0001c0013t0001g0253 a0001c0013t0001g0258 a0001c0013t0001g0260 a0001c0013t0001g0271 a0001c0013t0001g0276 a0001c0015t0002g0284 a0001c0015t0002g0288 a0001c0015t0002g0296 a0001c0015t0002g0299 a0001c0016t0004g0063 a0001c0016t0004g0064 a0001c0016t0004g0066 a0001c0016t0004g0067 a0001c0019t0005g0020 a0001c0019t0005g0120 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0055 a0001c0021t0001g0058 a0001c0021t0001g0092 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0300 a0001c0028t0002g0303 a0001c0029t0001g0032 a0001c0030t0001g0038 a0001c0031t0003g0061 a0001c0031t0003g0062 a0001c0032t0001g0045 a0001c0033t0001g0131 a0001c0033t0001g0134 a0001c0044t0002g0291 a0001c0045t0002g0308 a0001c0046t0001g0137 a0001c0047t0001g0261 a0001c0048t0001g0108 a0001c0049t0001g0100 a0001c0050t0001g0070 a0001c0051t0001g0273 a0001c0052t0001g0248 a0001c0053t0001g0072 a0001c0054t0004g0065 a0001c0055t0001g0140 a0001c0056t0001g0133 a0001c0057t0001g0071 a0001c0058t0001g0110 a0003c0008t0001g0049 a0003c0008t0001g0050 a0003c0008t0001g0339 a0003c0008t0001g0341 a0003c0008t0001g0343 a0003c0008t0001g0344 a0003c0008t0001g0345 a0003c0008t0001g0348 a0003c0010t0001g0047 a0003c0010t0001g0338 a0003c0010t0001g0347 a0003c0010t0001g0349 a0003c0010t0001g0351 a0003c0010t0001g0353 a0003c0035t0001g0048 a0003c0062t0001g0342 a0003c0063t0001g0352 a0003c0064t0001g0354 a0003c0065t0001g0346 a0003c0066t0001g0340 a0003c0067t0001g0350 a0006c0017t0001g0332 a0006c0017t0001g0334 a0006c0017t0001g0335 a0006c0017t0001g0336 a0006c0060t0001g0333 a0014c0036t0002g0286	280	446	0.6278	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037			chr10	TogoVar
PITRM1_chr10_3132728_3177782	3166388	A A	AGAGAGAG others(18): Show AGAGAGAGGAATGGCACGCTAGGGAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0060 a0016c0037t0001g0060	1	446	0.0022	25	c.267 others(36): Show c.267-9_267-8insGTCCCTAGCGTGCCATTCCTCTCTC		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	3/26						chr10	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01891.hp2 others(12): Show HG00438.hp1 HG00673.hp1 HG01891.hp2 HG02129.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18962.hp2 NA18963.hp2 NA18975.hp1 NA18980.hp1 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0002 a0001c0001t0001 a0001c0028t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0028t0002g0303	15	446	0.0336	25	c.-18 others(36): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAA		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding					1802		chr10	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp2 others(2): Show HG00738.hp2 HG01167.hp1 HG01169.hp2 NA19074.hp1 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0002c0016 others(1): Show a0001c0001 a0001c0006 a0002c0016 a0006c0009	a0001c0001t0001 a0001c0006t0001 a0002c0016t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0002c0016t0001 a0006c0009t0001	a0001c0001t0001g0294 a0001c0006t0001g0282 a0002c0016t0001g0237 others(1): Show a0001c0001t0001g0294 a0001c0006t0001g0282 a0002c0016t0001g0237 a0006c0009t0001g0009	5	386	0.0130	25	c.103 others(40): Show c.103-792_103-791insTTTTTTTTTTTTTTTTTTTTTTTTT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20						chr22	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCCC others(18): Show TCCCTCCCCCTCCCCCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0051 a0003c0003t0002g0051	1	346	0.0029	25	c.200 others(44): Show c.2002-3286_2002-3262dupGGGAGGGGGAGGGGGAGGGGGAGGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18972.hp1 NA18979.hp1 NA18906.hp1 NA18972.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0046 a0002c0002t0001g0290 a0002c0002t0001g0005 a0002c0002t0001g0046 a0002c0002t0001g0290	3	346	0.0087	25	c.128 others(44): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109372923	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	346	0.0029	25	c.128 others(44): Show c.1284-4178_1284-4177insCTTTTTTTTTTTTTTTTTTTTTTTT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9						chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01192.hp1 others(14): Show HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01884.hp2 HG02074.hp2 HG02258.hp2 HG02451.hp2 HG02896.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp2 NA18978.hp1 NA19060.hp1 NA19067.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0011 a0013 a0023 a0031 a0080	a0001c0008 a0002c0115 a0002c0156 others(7): Show a0001c0008 a0002c0115 a0002c0156 a0004c0011 a0008c0043 a0011c0016 a0013c0020 a0023c0146 a0031c0097 a0080c0166	a0001c0008t0001 a0002c0115t0001 a0002c0156t0001 others(7): Show a0001c0008t0001 a0002c0115t0001 a0002c0156t0001 a0004c0011t0002 a0008c0043t0002 a0011c0016t0002 a0013c0020t0001 a0023c0146t0001 a0031c0097t0001 a0080c0166t0001	a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0030 others(14): Show a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0030 a0001c0008t0001g0031 a0001c0008t0001g0046 a0002c0115t0001g0219 a0002c0156t0001g0263 a0004c0011t0002g0073 a0004c0011t0002g0078 a0004c0011t0002g0155 a0008c0043t0002g0094 a0011c0016t0002g0079 a0011c0016t0002g0177 a0013c0020t0001g0039 a0023c0146t0001g0244 a0031c0097t0001g0233 a0080c0166t0001g0268	17	306	0.0556	25	c.409 others(42): Show c.4093-321_4093-297dupAATAAAATAAAATAAAATAAAATAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp2 others(7): Show HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA19240.hp2	a0001 a0015 a0021 others(3): Show a0001 a0015 a0021 a0026 a0027 a0048	a0001c0013 a0001c0038 a0015c0014 others(6): Show a0001c0013 a0001c0038 a0015c0014 a0015c0079 a0021c0031 a0021c0066 a0026c0032 a0027c0065 a0048c0070	a0001c0013t0001 a0001c0038t0001 a0015c0014t0001 others(6): Show a0001c0013t0001 a0001c0038t0001 a0015c0014t0001 a0015c0079t0001 a0021c0031t0001 a0021c0066t0001 a0026c0032t0001 a0027c0065t0003 a0048c0070t0001	a0001c0013t0001g0016 a0001c0038t0001g0025 a0015c0014t0001g0023 others(7): Show a0001c0013t0001g0016 a0001c0038t0001g0025 a0015c0014t0001g0023 a0015c0079t0001g0022 a0021c0031t0001g0011 a0021c0031t0001g0012 a0021c0066t0001g0010 a0026c0032t0001g0017 a0027c0065t0003g0018 a0048c0070t0001g0057	10	306	0.0327	25	c.206 others(42): Show c.2064+321_2064+345dupTTTTCTTTTCTTTTCTTTTCTTTTC		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56						chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71946700	T T	TAAAGAAG others(18): Show TAAAGAAGTGGATTTGTGGGGCAGGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0060 a0004c0009t0001g0060	1	308	0.0033	25	c.371 others(42): Show c.3718+767_3718+791dupGCCTGCCCCACAAATCCACTTCTTT		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29						chr16	TogoVar
PKD1_chr16_2083708_2140898	2104946	T T	TAGGGGAG others(18): Show TAGGGGAGGGGGAGGAGGGGAAGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0001 a0042c0035t0001	a0042c0035t0001g0086 a0042c0035t0001g0086	1	216	0.0046	25	c.801 others(42): Show c.8017-305_8017-304insGCCCTTCCCCTCCTCCCCCTCCCCT		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45						chr16	TogoVar
PKD1_chr16_2083708_2140898	2104989	A A	AGGGCTAG others(18): Show AGGGCTAGGGGAGGGGAGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03486.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03486.hp2 NA18522.hp1	a0017 a0052 a0057 a0017 a0052 a0057	a0017c0015 a0052c0052 a0057c0046 a0017c0015 a0052c0052 a0057c0046	a0017c0015t0011 a0052c0052t0001 a0057c0046t0011 a0017c0015t0011 a0052c0052t0001 a0057c0046t0011	a0017c0015t0011g0199 a0017c0015t0011g0200 a0052c0052t0001g0187 others(1): Show a0017c0015t0011g0199 a0017c0015t0011g0200 a0052c0052t0001g0187 a0057c0046t0011g0201	4	216	0.0185	25	c.801 others(42): Show c.8016+308_8016+332dupCTCCCCTCCTCCCCTCCCCTAGCCC		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	21/45						chr16	TogoVar
PKDCC_chr2_42043021_42063517	42047932	A A	AGGCGGAG others(18): Show AGGCGGAGGCGGAGGAGGAGGCGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA20752.hp1 HG01981.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0008	2	432	0.0046	25	c.-26 others(34): Show c.-268_-267insGGCGGAGGCGGAGGAGGAGGCGGAG		PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding					88		chr2	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0017 a0027 a0017 a0027	a0017c0017 a0027c0029 a0017c0017 a0027c0029	a0017c0017t0004 a0027c0029t0023 a0017c0017t0004 a0027c0029t0023	a0017c0017t0004g0273 a0027c0029t0023g0272 a0017c0017t0004g0273 a0027c0029t0023g0272	2	282	0.0071	25	c.208 others(42): Show c.2085+769_2085+770insTTTTTTTTTTTTTTTTTTTTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51758053	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0129 a0001c0022t0001g0129	1	134	0.0075	25	c.864 others(44): Show c.8643-3116_8643-3115insCTCTCTCTCTCTCTCTCTCTCTCTC		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66						chr6	TogoVar
PKN1_chr19_14428306_14476859	14442065	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0211 a0008c0018t0001g0211	1	376	0.0027	25	c.322 others(40): Show c.322+645_322+646insTTTTTTTTTTTTTTTTTTTTTTTTT		PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01175.hp1 others(7): Show HG00280.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG02004.hp2 HG02965.hp2 HG03491.hp1 HG03492.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0195 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0195 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0238	10	360	0.0278	25	c.198 others(42): Show c.1985+196_1985+220dupTTTTTTTTTTTTTTTTTTTTTTTTT		PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	362	0.0028	25	c.-57 others(44): Show c.-57+12741_-57+12742insATATATATATATATATATATATATA		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	362	0.0028	25	c.-57 others(44): Show c.-57+12740_-57+12741insTATATATATATATATATATATATAT		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10						chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43032314	T T	TTCCCTCA others(18): Show TTCCCTCACCACCCTCCGTCTCTTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(54): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02486.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19058.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0002c0004t0005	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(53): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0108 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0256 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0173 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0006g0003 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0258 a0001c0001t0020g0154 a0001c0001t0020g0165 a0001c0001t0021g0151 a0001c0001t0021g0152 a0001c0001t0033g0166 a0002c0004t0005g0158	57	362	0.1575	25	c.22 others(36): Show c.2214_*2238dupTCCCTCACCACCCTCCGTCTCTTCG		PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	11/11				2239	INFO_REALIGN_3_PRIME	chr21	TogoVar
PKP2_chr12_32785755_32901777	32806686	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	342	0.0029	25	c.201 others(44): Show c.2014-4131_2014-4130insCACACACACACACACACACACACAC		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12						chr12	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02280.hp1 NA19004.hp2 others(1): Show HG02273.hp2 HG02280.hp1 NA19004.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0001 a0002c0002t0005 a0002c0002t0006	a0002c0002t0001g0144 a0002c0002t0005g0317 a0002c0002t0006g0119 others(1): Show a0002c0002t0001g0144 a0002c0002t0005g0317 a0002c0002t0006g0119 a0002c0002t0006g0192	4	342	0.0117	25	c.137 others(44): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTTT		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12						chr12	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG03471.hp2 HG00738.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0005g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0005g0170	3	342	0.0088	25	c.117 others(44): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTT		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12						chr12	TogoVar

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