JoGo: Joint Open Genome and Omics Platform

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
PPP2R3B_chrX_328933_391907	340120	T T	TGGGGGGG others(23): Show TGGGGGGGGGCGAGAGGGGGGGGAGGAGCGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	25	0.0400	30	c.135 others(47): Show c.1351+644_1351+645insCCGCTCCTCCCCCCCCTCTCGCCCCCCC CC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	340589	C C	CCCTCCCG others(23): Show CCCTCCCGTCCGTCCCCTCACCCTGGGCCGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0011 a0002c0003t0003g0011	1	25	0.0400	30	c.135 others(47): Show c.1351+175_1351+176insACGGCCCAGGGTGAGGGGACGGACGGGA GG	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP2R5C_chr14_101756709_101932977	101764028	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp1 HG02451.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0009 a0002c0002t0008g0010 a0002c0002t0008g0009 a0002c0002t0008g0010	2	138	0.0145	30	c.93+ others(45): Show c.93+1059_93+1060insTGTGTGTGTGTGTGTGTGTGCGCGCGCGCG	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101764028	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	138	0.0073	30	c.93+ others(45): Show c.93+1059_93+1060insTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101782403	C C	CCCCTTTC others(23): Show CCCCTTTCCACTTTCTCTCTTTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	138	0.0073	30	c.94- others(45): Show c.94-3615_94-3614insCCCTTTCCACTTTCTCTCTTTCTCCCCCCT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15			chr14	TogoVar
PPP2R5C_chr14_101756709_101932977	101924445	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01258.hp1 HG01255.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0111 a0001c0001t0012g0064 a0001c0001t0002g0111 a0001c0001t0012g0064	2	138	0.0145	30	c.160 others(47): Show c.1609-684_1609-683insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP3CA_chr4_101018418_101352526	101090833	G G	GACATATC others(23): Show GACATATCTGTGTCTATATTATAATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG01074.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0122 a0001c0001t0006g0031 a0001c0001t0001g0122 a0001c0001t0006g0031	2	192	0.0104	30	c.782 others(47): Show c.782+2913_782+2942dupGTGTATATTATAATATAGACACAGATAT GT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	6/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22472363	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19001.hp1 HG00438.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0260 a0001c0001t0003g0009 a0001c0001t0002g0260 a0001c0001t0003g0009	2	326	0.0061	30	c.50- others(45): Show c.50-2576_50-2547dupACACACACACACACACACACACACACACAC	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R1_chr2_68173857_68257532	68232124	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0393 a0001c0002t0014g0393	1	398	0.0025	30	c.4-1 others(45): Show c.4-14994_4-14993insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	1/5			chr2	TogoVar
PPP4R1_chr18_9541794_9619559	9605566	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	388	0.0026	30	c.52+ others(45): Show c.52+8659_52+8660insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPP4R1	ENSG00000154845.16	transcript	ENST00000400556.8	protein_coding	2/19			chr18	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG01975.hp1 others(3): Show HG01074.hp1 HG01255.hp1 HG01975.hp1 HG03486.hp1 NA19006.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0340 a0001c0001t0001g0346	6	370	0.0162	30	c.166 others(49): Show c.1660+2169_1660+2170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	382	0.0026	30	c.143 others(45): Show c.143-352_143-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP5C_chr19_46342087_46395975	46389362	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	394	0.0025	30	c.135 others(47): Show c.1356-619_1356-590dupCACACACACACACACACACACACACACA CA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389460	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19076.hp1 HG02080.hp2 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0079 a0001c0002t0002g0047 a0001c0002t0002g0079	2	394	0.0051	30	c.135 others(47): Show c.1356-590_1356-589insCACACACACACACACACACACACACACA GA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50340775	G G	GGGAGCCA others(23): Show GGGAGCCATGAGCAAGGGGAGTAGGAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0141 a0002c0004t0013g0141	1	340	0.0029	30	c.-29 others(41): Show c.-2923_-2922insGGAGCCATGAGCAAGGGGAGTAGGAGAGGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		2551		chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50343810	C C	CCCCCCCA others(23): Show CCCCCCCAGTCAGTTCCCCCCCAGTCAGTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0070 a0001c0002t0023g0070	1	340	0.0029	30	c.-14 others(47): Show c.-148+275_-148+304dupCCCCCCCAGTCAGTTTCCCCCCAGTCAG TT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50375832	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0304 a0001c0008t0004g0304	1	340	0.0029	30	c.-17 others(47): Show c.-17+3708_-17+3709insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0160 a0001c0001t0009g0160	1	252	0.0040	30	c.-15 others(51): Show c.-158+16915_-158+16916insAATATATATATATATATATATATA TATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	384	0.0026	30	c.42 others(41): Show c.4249_*4250insTATATATATATATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAMEF20_chr1_13405450_13426328	13417908	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19075.hp1 NA19070.hp2 NA19075.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0075 a0002c0003t0001g0156 a0002c0003t0001g0075 a0002c0003t0001g0156	2	442	0.0045	30	c.288 others(45): Show c.288-213_288-212insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156787650	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	350	0.0029	30	c.108 others(47): Show c.1083+492_1083+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156792053	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18943.hp1 HG02738.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0019 a0001c0001t0001g0037	2	350	0.0057	30	c.117 others(47): Show c.1179+289_1179+290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	350	0.0029	30	c.132 others(47): Show c.1323+501_1323+502insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCP_chr11_82817936_82905430	82882875	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18975.hp2 NA18984.hp1 HG01975.hp1 NA18975.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0027 a0001c0001t0002g0073 a0001c0001t0018g0072 a0001c0001t0002g0027 a0001c0001t0002g0073 a0001c0001t0018g0072	3	320	0.0094	30	c.168 others(49): Show c.168+17359_168+17360insAGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PRCP	ENSG00000137509.12	transcript	ENST00000313010.8	protein_coding	1/8			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129963382	G G	GAAAAGAG others(23): Show GAAAAGAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG03486.hp1 others(4): Show HG01109.hp1 HG02572.hp2 HG03486.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0013 others(1): Show a0001c0003 a0001c0011 a0001c0013 a0001c0050	a0001c0003t0001 a0001c0003t0002 a0001c0011t0002 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0011t0002 a0001c0011t0015 a0001c0013t0004 a0001c0050t0001	a0001c0003t0001g0213 a0001c0003t0002g0157 a0001c0011t0002g0177 others(4): Show a0001c0003t0001g0213 a0001c0003t0002g0157 a0001c0011t0002g0177 a0001c0011t0002g0178 a0001c0011t0015g0179 a0001c0013t0004g0158 a0001c0050t0001g0189	7	326	0.0215	30	c.-11 others(49): Show c.-118-2301_-118-2300insTCTCTTCTCTTCTCTTCTCTTCTCTC TTTT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0285 a0001c0002t0002g0285	1	392	0.0026	30	c.683 others(45): Show c.683-588_683-587insATATATATATATATATATATATATATTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM15_chr21_41793225_41884344	41806048	C C	CCACCACC others(23): Show CCACCACCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0013 a0001c0038t0013	a0001c0038t0013g0254 a0001c0038t0013g0254	1	406	0.0025	30	c.265 others(49): Show c.2653-1435_2653-1434insATGGTGGTGGTGGTGATGGTGGTGGT GGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806307	C C	CCACCACC others(23): Show CCACCACCACCATCACTACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0348 a0001c0002t0002g0348	1	406	0.0025	30	c.265 others(49): Show c.2653-1694_2653-1693insATGGTGGTGGTGGTAGTGATGGTGGT GGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41835940	G G	GCCGCTCT others(23): Show GCCGCTCTCCTCCCTCCCCCACAGGCCTCGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(108): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19064.hp2 NA19068.hp1 NA19080.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0006 others(17): Show a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0019 a0001c0023 a0001c0025 a0001c0028 a0001c0030 a0001c0038 a0001c0043 a0001c0044 a0002c0015 a0002c0024 a0002c0034 a0003c0022	a0001c0002t0002 a0001c0002t0015 a0001c0002t0027 others(30): Show a0001c0002t0002 a0001c0002t0015 a0001c0002t0027 a0001c0002t0038 a0001c0002t0044 a0001c0003t0001 a0001c0006t0004 a0001c0006t0005 a0001c0006t0006 a0001c0006t0007 a0001c0006t0009 a0001c0006t0010 a0001c0006t0013 a0001c0006t0021 a0001c0011t0010 a0001c0012t0002 a0001c0013t0001 a0001c0014t0003 a0001c0016t0008 a0001c0019t0002 a0001c0019t0022 a0001c0023t0003 a0001c0025t0013 a0001c0028t0002 a0001c0028t0041 a0001c0030t0008 a0001c0038t0013 a0001c0043t0001 a0001c0044t0001 a0002c0015t0005 a0002c0024t0005 a0002c0034t0005 a0003c0022t0001	a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 others(106): Show a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0103 a0001c0002t0002g0144 a0001c0002t0002g0217 a0001c0002t0002g0251 a0001c0002t0002g0257 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0326 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0332 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0341 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0002t0002g0350 a0001c0002t0002g0351 a0001c0002t0002g0356 a0001c0002t0002g0372 a0001c0002t0002g0377 a0001c0002t0002g0378 a0001c0002t0002g0381 a0001c0002t0002g0382 a0001c0002t0002g0383 a0001c0002t0015g0003 a0001c0002t0015g0398 a0001c0002t0027g0016 a0001c0002t0027g0017 a0001c0002t0038g0101 a0001c0002t0044g0014 a0001c0003t0001g0307 a0001c0003t0001g0358 a0001c0006t0004g0308 a0001c0006t0005g0002 a0001c0006t0005g0039 a0001c0006t0006g0344 a0001c0006t0006g0345 a0001c0006t0007g0319 a0001c0006t0009g0190 a0001c0006t0009g0316 a0001c0006t0009g0371 a0001c0006t0010g0061 a0001c0006t0010g0392 a0001c0006t0013g0038 a0001c0006t0013g0063 a0001c0006t0013g0353 a0001c0006t0021g0327 a0001c0011t0010g0020 a0001c0011t0010g0023 a0001c0011t0010g0116 a0001c0011t0010g0300 a0001c0011t0010g0357 a0001c0011t0010g0379 a0001c0011t0010g0389 a0001c0012t0002g0279 a0001c0012t0002g0375 a0001c0012t0002g0376 a0001c0012t0002g0384 a0001c0012t0002g0385 a0001c0013t0001g0018 a0001c0013t0001g0339 a0001c0013t0001g0362 a0001c0014t0003g0123 a0001c0014t0003g0335 a0001c0014t0003g0346 a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 a0001c0016t0008g0062 a0001c0019t0002g0162 a0001c0019t0022g0069 a0001c0019t0022g0070 a0001c0023t0003g0324 a0001c0025t0013g0036 a0001c0028t0002g0369 a0001c0028t0041g0368 a0001c0030t0008g0167 a0001c0038t0013g0254 a0001c0043t0001g0291 a0001c0044t0001g0148 a0002c0015t0005g0216 a0002c0015t0005g0340 a0002c0015t0005g0401 a0002c0015t0005g0402 a0002c0024t0005g0181 a0002c0034t0005g0299 a0003c0022t0001g0342 a0003c0022t0001g0343	111	406	0.2734	30	c.127 others(47): Show c.1278+172_1278+173insGCGAGGCCTGTGGGGGAGGGAGGAGAGC GG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41835973	A A	ACTCTCCT others(23): Show ACTCTCCTCCCTCCCCCACAGGCCTCGCCCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0041 a0001c0006t0005g0041	1	406	0.0025	30	c.127 others(47): Show c.1278+139_1278+140insCGGGCGAGGCCTGTGGGGGAGGGAGGAG AG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	10/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41856158	C C	CTCCCCTC others(23): Show CTCCCCTCCCTTCCTTCCTTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0061 a0001c0006t0010g0061	1	406	0.0025	30	c.285 others(47): Show c.285+1017_285+1018insAGGAGGGAAGGAAGGAAGGAAGGGAGGG GA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3111466	T T	TGGGGAGG others(23): Show TGGGGAGGAGGAGGGAGGCGGGGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp2 others(45): Show HG00280.hp1 HG00558.hp2 HG00597.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18943.hp1 NA18966.hp1 NA18990.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0022 a0002c0003 a0002c0007 a0002c0030 a0003c0005 a0004c0010 a0008c0027 a0009c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0035 a0001c0001t0043 a0001c0001t0056 a0001c0001t0076 a0001c0001t0083 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0032 a0001c0002t0061 a0001c0002t0062 a0001c0002t0084 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0081 a0001c0006t0011 a0001c0006t0039 a0001c0008t0001 a0001c0009t0074 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0013 a0002c0007t0001 a0002c0007t0002 a0002c0030t0047 a0003c0005t0001 a0004c0010t0026 a0008c0027t0078 a0009c0028t0015	a0001c0001t0001g0006 a0001c0001t0001g0203 a0001c0001t0003g0049 others(45): Show a0001c0001t0001g0006 a0001c0001t0001g0203 a0001c0001t0003g0049 a0001c0001t0005g0184 a0001c0001t0007g0054 a0001c0001t0012g0129 a0001c0001t0014g0069 a0001c0001t0016g0035 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0035g0194 a0001c0001t0043g0060 a0001c0001t0056g0204 a0001c0001t0076g0170 a0001c0001t0083g0027 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0121 a0001c0002t0001g0208 a0001c0002t0003g0120 a0001c0002t0005g0186 a0001c0002t0018g0085 a0001c0002t0032g0192 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0084g0138 a0001c0004t0004g0051 a0001c0004t0007g0071 a0001c0004t0010g0032 a0001c0004t0010g0130 a0001c0004t0081g0031 a0001c0006t0011g0065 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0009t0074g0117 a0001c0022t0057g0139 a0002c0003t0001g0018 a0002c0003t0004g0048 a0002c0003t0004g0128 a0002c0003t0007g0103 a0002c0003t0013g0137 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0030t0047g0206 a0003c0005t0001g0172 a0004c0010t0026g0122 a0008c0027t0078g0082 a0009c0028t0015g0209	48	210	0.2286	30	c.37+ others(47): Show c.37+42181_37+42182insGGGAGGCGGGGGGAGGAGGGGGGAGGAG GA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3146991	T T	TGTGTGTG others(23): Show TGTGTGTGCTCGGTGTGGGGGGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02717.hp1 others(6): Show HG02280.hp1 HG02559.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 a0001c0001 a0001c0008 a0001c0013	a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 others(6): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0028 a0001c0001t0043 a0001c0001t0046 a0001c0008t0001 a0001c0008t0040 a0001c0013t0001	a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0001t0020g0105 others(6): Show a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0001t0020g0105 a0001c0001t0028g0126 a0001c0001t0043g0060 a0001c0001t0046g0042 a0001c0008t0001g0005 a0001c0008t0040g0021 a0001c0013t0001g0104	9	210	0.0429	30	c.38- others(47): Show c.38-39125_38-39124insCGGTGTGGGGGGTGTGCGCACGTGTGTG CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181448	A A	ACACGGTC others(23): Show ACACGGTCTTACACACGCGGTCTTACACAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02723.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0030 a0001c0022 a0002c0030	a0001c0022t0057 a0002c0030t0047 a0001c0022t0057 a0002c0030t0047	a0001c0022t0057g0139 a0002c0030t0047g0206 a0001c0022t0057g0139 a0002c0030t0047g0206	2	210	0.0095	30	c.38- others(45): Show c.38-4676_38-4675insACGGTCTTACACACGCGGTCTTACACAAGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3255852	C C	CGACACCC others(23): Show CGACACCCGAAGCCAACCCCGTGGCCGCACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(68): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03239.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18970.hp1 NA18983.hp1 NA18990.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19067.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0017 a0001c0020 a0001c0021 a0001c0026 a0001c0031 a0002c0003 a0003c0005 a0003c0011 a0004c0010 a0009c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0035 a0001c0001t0048 a0001c0001t0069 a0001c0001t0076 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0016 a0001c0002t0018 a0001c0002t0032 a0001c0002t0038 a0001c0002t0061 a0001c0002t0064 a0001c0002t0071 a0001c0004t0063 a0001c0004t0081 a0001c0008t0040 a0001c0009t0005 a0001c0009t0074 a0001c0017t0054 a0001c0020t0005 a0001c0021t0049 a0001c0026t0001 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0051 a0002c0003t0075 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009 a0003c0011t0001 a0004c0010t0026 a0009c0028t0015	a0001c0001t0001g0029 a0001c0001t0001g0096 a0001c0001t0001g0119 others(68): Show a0001c0001t0001g0029 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0002g0011 a0001c0001t0002g0086 a0001c0001t0003g0049 a0001c0001t0004g0046 a0001c0001t0006g0155 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0023g0112 a0001c0001t0035g0194 a0001c0001t0048g0151 a0001c0001t0069g0115 a0001c0001t0076g0170 a0001c0002t0001g0014 a0001c0002t0001g0058 a0001c0002t0001g0116 a0001c0002t0001g0153 a0001c0002t0001g0187 a0001c0002t0001g0210 a0001c0002t0002g0135 a0001c0002t0002g0146 a0001c0002t0002g0169 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0144 a0001c0002t0005g0152 a0001c0002t0005g0186 a0001c0002t0008g0083 a0001c0002t0008g0094 a0001c0002t0016g0015 a0001c0002t0016g0195 a0001c0002t0018g0085 a0001c0002t0032g0192 a0001c0002t0038g0077 a0001c0002t0061g0093 a0001c0002t0064g0182 a0001c0002t0071g0099 a0001c0004t0063g0016 a0001c0004t0081g0031 a0001c0008t0040g0021 a0001c0009t0005g0200 a0001c0009t0074g0117 a0001c0017t0054g0134 a0001c0020t0005g0196 a0001c0021t0049g0023 a0001c0026t0001g0160 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0001g0142 a0002c0003t0002g0102 a0002c0003t0006g0050 a0002c0003t0006g0066 a0002c0003t0051g0079 a0002c0003t0075g0084 a0003c0005t0001g0171 a0003c0005t0006g0053 a0003c0005t0009g0136 a0003c0011t0001g0185 a0004c0010t0026g0122 a0009c0028t0015g0209	71	210	0.3381	30	c.438 others(49): Show c.438+11745_438+11774dupTGACACCCGAAGCCAACCCCGTGGCC GCAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDX4_chrX_23662493_23691397	23665838	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02056.hp1 HG02109.hp2 others(3): Show HG00408.hp1 HG02056.hp1 HG02109.hp2 HG02976.hp2 NA18972.hp2 NA19059.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0208 a0001c0001t0003g0120 a0002c0002t0001g0148	6	349	0.0172	30	c.-17 others(41): Show c.-1733_-1732insAAAAAAAAAAAAAAAAAAAAAAAAAAACAG	PRDX4	ENSG00000123131.13	transcript	ENST00000379341.9	protein_coding		1654		chrX	TogoVar
PRELID2_chr5_145751344_145840342	145821149	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	258	0.0039	30	c.134 others(47): Show c.134-1132_134-1131insCACACACACACACACACACACACACACA CA	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	2/6			chr5	TogoVar
PRELID2_chr5_145751344_145840342	145821152	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG01928.hp2 others(22): Show HG01081.hp1 HG01884.hp1 HG01928.hp2 HG02004.hp1 HG02083.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 NA18949.hp2 NA18989.hp1 NA19030.hp1 NA19084.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0063 a0001c0001t0064 a0001c0003t0021 a0001c0003t0054	a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0165 others(22): Show a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0002g0062 a0001c0001t0002g0131 a0001c0001t0002g0179 a0001c0001t0003g0017 a0001c0001t0003g0124 a0001c0001t0003g0169 a0001c0001t0007g0195 a0001c0001t0008g0174 a0001c0001t0013g0006 a0001c0001t0015g0019 a0001c0001t0017g0213 a0001c0001t0024g0004 a0001c0001t0042g0166 a0001c0001t0043g0008 a0001c0001t0047g0189 a0001c0001t0063g0052 a0001c0001t0064g0254 a0001c0003t0021g0057 a0001c0003t0054g0056	25	258	0.0969	30	c.134 others(47): Show c.134-1164_134-1135dupACACACACACACACACACACACACACAC AC	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	2/6			chr5	TogoVar
PREP_chr6_105268218_105408082	105334713	T T	TCAACAAC others(23): Show TCAACAACAACAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0161 a0007c0013t0002g0161	1	212	0.0047	30	c.824 others(47): Show c.824-1209_824-1208insTTGTTGTTGTTGTTGTTGTTGTTGTTGT TG	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	7/14			chr6	TogoVar
PREP_chr6_105268218_105408082	105371500	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0132 a0001c0006t0001g0132	1	212	0.0047	30	c.595 others(47): Show c.595+1868_595+1869insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	5/14			chr6	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0004 a0001c0037t0004	a0001c0037t0004g0009 a0001c0037t0004g0009	1	268	0.0037	30	c.173 others(49): Show c.1739-1384_1739-1383insATATATATATATATATATATATATTT TTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PRICKLE4_chr6_41775782_41792452	41783779	A A	AAACTCAT others(23): Show AAACTCATTCACATGAGTATTCATTATCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0083 a0002c0003t0001g0083	1	454	0.0022	30	c.132 others(45): Show c.132+175_132+204dupAACTCATTCACATGAGTATTCATTATCTCT	PRICKLE4	ENSG00000278224.7	transcript	ENST00000458694.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57345506	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	300	0.0033	30	c.459 others(49): Show c.459+19462_459+19463insGTGTGTGTGTGTGTGTGTGTGTGTGT ACAT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57542939	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	300	0.0033	30	c.102 others(49): Show c.1020+5333_1020+5334insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIMPOL_chr4_184644738_184699952	184651290	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp2 HG02809.hp1 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0056 a0003c0003t0001g0057	2	328	0.0061	30	c.-13 others(47): Show c.-137-725_-137-724insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676719	T T	TTCCTTCT others(23): Show TTCCTTCTCCCTTCCCTTCTCCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01074.hp1 others(4): Show HG00639.hp2 HG00733.hp1 HG01074.hp1 HG01433.hp2 HG02451.hp1 HG02970.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 others(4): Show a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311	7	328	0.0213	30	c.845 others(47): Show c.845-1513_845-1512insTCCTTCTCCCTTCCCTTCTCCCCTCCCT TC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKACA_chr19_14086688_14122762	14109999	T T	TATATATA others(23): Show TATATATATATACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp1 HG02897.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0315 a0001c0001t0002g0316	2	358	0.0056	30	c.47- others(45): Show c.47-2591_47-2590insGTGTGTGTGTGTGTGTATGTATATATATAT	PRKACA	ENSG00000072062.16	transcript	ENST00000308677.9	protein_coding	1/9			chr19	TogoVar
PRKACB_chr1_84139271_84243498	84180183	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG01099.hp2 others(14): Show HG00544.hp2 HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG03225.hp1 HG03453.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA19055.hp2 NA19063.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0135 others(14): Show a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0105 a0001c0001t0002g0137 a0001c0001t0002g0195 a0001c0001t0002g0235 a0001c0001t0002g0256 a0001c0001t0002g0260 a0002c0002t0001g0138	17	320	0.0531	30	c.249 others(45): Show c.249+971_249+972insATATATATATATATATATATATATATATAT	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKACB_chr1_84139271_84243498	84198931	G G	GTATATGT others(23): Show GTATATGTGTATATATACATATATATTCATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02486.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0264 a0001c0001t0002g0265	2	320	0.0063	30	c.783 others(47): Show c.783+1120_783+1149dupTATACATATATATTCATATATATGTGTA TA	PRKACB	ENSG00000142875.21	transcript	ENST00000370685.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG1_chr12_48997274_49023776	49002545	A A	AGGGCCAA others(23): Show AGGGCCAAGATGGAGGCAGAGGCAAGTGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	314	0.0032	30	c.32 others(39): Show c.324_*353dupCCTCACTTGCCTCTGCCTCCATCTTGGCCC	PRKAG1	ENSG00000181929.13	transcript	ENST00000548065.7	protein_coding	12/12	353		chr12	TogoVar

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