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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PPP6R3_chr11_68455752_68620334	68542389	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	252	0.0040	25	c.228 others(42): Show c.228-2427_228-2426insTTTTTTTTTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573154	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	252	0.0040	25	c.134 others(42): Show c.1344-955_1344-954insTATATATATATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23			chr11	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02615.hp2 HG02630.hp1 others(9): Show HG02129.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG03139.hp1 HG03491.hp1 HG03688.hp2 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0087 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0268	12	384	0.0313	25	c.969 others(42): Show c.969+1190_969+1191insATATATATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	384	0.0026	25	c.42 others(36): Show c.4249_*4250insATATATATATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAMEF13_chr1_13191188_13206409	13203403	A A	AAGAAAGA others(18): Show AAGAAAGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	53	0.0189	25	c.-20 others(36): Show c.-2098_-2097insCTTCCTTCCTTCCTTCCTTCTTTCT	PRAMEF13	ENSG00000279169.3	transcript	ENST00000625019.3	protein_coding		1995		chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286177	G G	GGAGAGAG others(18): Show GGAGAGAGGGAGGGAGGGAGGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	332	0.0030	25	c.-11 others(36): Show c.-1107_-1106insTCTCTCCTCCCTCCCTCCCTCTCTC	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1041		chr1	TogoVar
PRAMEF8_chr1_13276304_13290137	13286218	T T	TGAAAGAA others(18): Show TGAAAGAAAGAAAGAAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0009 a0002c0006t0001g0009	1	332	0.0030	25	c.-11 others(36): Show c.-1148_-1147insTTTCTTTCCTTTCTTTCTTTCTTTC	PRAMEF8	ENSG00000182330.11	transcript	ENST00000357367.7	protein_coding		1082		chr1	TogoVar
PRB3_chr12_11260914_11274707	11272515	T T	TTTATATT others(18): Show TTTATATTATATTATATTATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	443	0.0023	25	c.-28 others(36): Show c.-2847_-2846insTATAATATAATATAATATAATATAA	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding		2809		chr12	TogoVar
PRCC_chr1_156762535_156805815	156779129	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18998.hp1 NA19030.hp1 NA18961.hp2 NA18998.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0262 a0002c0002t0001g0148 a0002c0002t0007g0147 a0001c0001t0001g0262 a0002c0002t0001g0148 a0002c0002t0007g0147	3	350	0.0086	25	c.469 others(42): Show c.469-3153_469-3152insATATATATATATATATATATATATA	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	1/6			chr1	TogoVar
PRCC_chr1_156762535_156805815	156787650	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02965.hp2 others(2): Show HG02258.hp2 HG02280.hp2 HG02965.hp2 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0295 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0295 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0320	5	350	0.0143	25	c.108 others(42): Show c.1083+492_1083+493insTTTTTTTTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	350	0.0029	25	c.132 others(42): Show c.1323+501_1323+502insTTTTTTTTTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM10_chr11_129894711_130007835	129963382	G G	GAAAAGAG others(18): Show GAAAAGAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02155.hp1 HG02280.hp1 others(9): Show HG00323.hp2 HG02155.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp2 HG03579.hp1 NA18960.hp1 NA19001.hp1 NA19067.hp1 NA19077.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0001c0013 others(4): Show a0001c0003 a0001c0011 a0001c0013 a0001c0020 a0001c0051 a0002c0001 a0002c0008	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(6): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0011t0002 a0001c0013t0004 a0001c0020t0008 a0001c0051t0001 a0002c0001t0002 a0002c0008t0009	a0001c0003t0001g0183 a0001c0003t0001g0229 a0001c0003t0001g0276 others(9): Show a0001c0003t0001g0183 a0001c0003t0001g0229 a0001c0003t0001g0276 a0001c0003t0002g0203 a0001c0003t0007g0251 a0001c0011t0002g0174 a0001c0011t0002g0176 a0001c0013t0004g0162 a0001c0020t0008g0076 a0001c0051t0001g0218 a0002c0001t0002g0204 a0002c0008t0009g0031	12	326	0.0368	25	c.-11 others(44): Show c.-118-2301_-118-2300insTCTCTTCTCTTCTCTTCTCTCTTTT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar
PRDM10_chr11_129894711_130007835	129963382	G G	GAGAGAAG others(18): Show GAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 NA19007.hp1 others(1): Show HG01106.hp1 HG01243.hp2 NA19007.hp1 NA19060.hp2	a0002 a0002	a0002c0001 a0002c0014 a0002c0026 a0002c0001 a0002c0014 a0002c0026	a0002c0001t0002 a0002c0014t0002 a0002c0026t0001 a0002c0001t0002 a0002c0014t0002 a0002c0026t0001	a0002c0001t0002g0171 a0002c0001t0002g0286 a0002c0014t0002g0273 others(1): Show a0002c0001t0002g0171 a0002c0001t0002g0286 a0002c0014t0002g0273 a0002c0026t0001g0262	4	326	0.0123	25	c.-11 others(44): Show c.-118-2325_-118-2301dupTCTCTTCTCTTCTCTTCTCTTCTCT	PRDM10	ENSG00000170325.16	transcript	ENST00000360871.8	protein_coding	1/20			chr11	TogoVar
PRDM12_chr9_130659594_130687983	130680634	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	392	0.0026	25	c.683 others(40): Show c.683-614_683-613insTATATATATATATATATATATATAT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4			chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	392	0.0026	25	c.683 others(40): Show c.683-588_683-587insATATATATATATATATATATATTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0026 a0002c0001t0004g0026	1	392	0.0026	25	c.683 others(40): Show c.683-588_683-587insATATATATATTTTTTTTTTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM15_chr21_41793225_41884344	41845251	C C	CACACAGC others(18): Show CACACAGCCCCTCCCCCCTCGCAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp2 others(10): Show HG01070.hp2 HG01071.hp2 HG01081.hp2 HG02109.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0026 a0001c0001 a0001c0018 a0001c0026	a0001c0001t0006 a0001c0001t0043 a0001c0018t0012 others(1): Show a0001c0001t0006 a0001c0001t0043 a0001c0018t0012 a0001c0026t0006	a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 others(10): Show a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0265 a0001c0001t0043g0115 a0001c0018t0012g0109 a0001c0018t0012g0287 a0001c0018t0012g0288 a0001c0026t0006g0111 a0001c0026t0006g0114	13	406	0.0320	25	c.640 others(42): Show c.640+1838_640+1839insCCCTGCGAGGGGGGAGGGGCTGTGT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41850294	T T	TTCCTCCT others(18): Show TTCCTCCTGGTGCCCCCCCCACACTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02698.hp2 NA19005.hp1 HG02055.hp1 HG02698.hp2 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0003t0001 a0001c0006t0009 a0001c0002t0002 a0001c0003t0001 a0001c0006t0009	a0001c0002t0002g0050 a0001c0003t0001g0064 a0001c0006t0009g0371 a0001c0002t0002g0050 a0001c0003t0001g0064 a0001c0006t0009g0371	3	406	0.0074	25	c.539 others(42): Show c.539-3104_539-3103insGAGTGTGGGGGGGGCACCAGGAGGA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	5/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41850305	G G	GCCCCCCC others(18): Show GCCCCCCCCCACACTCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0033 a0001c0036t0001g0033	1	406	0.0025	25	c.539 others(42): Show c.539-3115_539-3114insACCAGGAGGAGAGTGTGGGGGGGGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	5/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41850313	A A	ACACTCTC others(18): Show ACACTCTCCTCCTGGTGCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0325 a0001c0005t0004g0325	1	406	0.0025	25	c.539 others(42): Show c.539-3123_539-3122insGGGGGGGGGCACCAGGAGGAGAGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	5/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3165939	A A	ACTCACCT others(18): Show ACTCACCTGGGCTCAGGAACGGAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	210	0.0048	25	c.38- others(42): Show c.38-20179_38-20178insGGGCTCAGGAACGGAGGCCTCACCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276670	A A	AGGTGCCA others(18): Show AGGTGCCATGAACAGAGCCAGCGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01069.hp1 others(47): Show HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0014 a0001c0022 a0002c0003 a0002c0007 a0002c0015 a0003c0011	a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 others(39): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0053 a0001c0001t0072 a0001c0001t0077 a0001c0001t0086 a0001c0001t0087 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0002t0027 a0001c0002t0050 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0055 a0001c0004t0073 a0001c0006t0011 a0001c0006t0013 a0001c0006t0024 a0001c0006t0039 a0001c0008t0001 a0001c0008t0002 a0001c0012t0009 a0001c0014t0030 a0001c0014t0068 a0001c0022t0057 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0007 a0002c0003t0029 a0002c0003t0051 a0002c0007t0001 a0002c0007t0002 a0002c0007t0019 a0002c0007t0024 a0002c0015t0014 a0003c0011t0001	a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0041 others(47): Show a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0041 a0001c0001t0012g0129 a0001c0001t0020g0105 a0001c0001t0022g0040 a0001c0001t0028g0111 a0001c0001t0028g0126 a0001c0001t0053g0154 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0001t0086g0033 a0001c0001t0087g0062 a0001c0002t0001g0208 a0001c0002t0006g0149 a0001c0002t0017g0177 a0001c0002t0027g0148 a0001c0002t0027g0166 a0001c0002t0050g0017 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0032 a0001c0004t0010g0174 a0001c0004t0055g0004 a0001c0004t0073g0143 a0001c0006t0011g0039 a0001c0006t0011g0065 a0001c0006t0013g0133 a0001c0006t0024g0026 a0001c0006t0039g0140 a0001c0008t0001g0005 a0001c0008t0002g0059 a0001c0012t0009g0113 a0001c0012t0009g0193 a0001c0014t0030g0178 a0001c0014t0068g0159 a0001c0022t0057g0139 a0002c0003t0001g0107 a0002c0003t0004g0127 a0002c0003t0006g0009 a0002c0003t0007g0103 a0002c0003t0029g0106 a0002c0003t0051g0079 a0002c0007t0001g0001 a0002c0007t0002g0045 a0002c0007t0019g0020 a0002c0007t0024g0070 a0002c0015t0014g0073 a0003c0011t0001g0056 a0003c0011t0001g0057	50	210	0.2381	25	c.438 others(44): Show c.438+32539_438+32540insATGAACAGAGCCAGCGAGGGGTGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276670	A A	AGGTGCCG others(18): Show AGGTGCCGTGAACAGAGCCAGCGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(145): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(21): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0013 a0001c0016 a0001c0017 a0001c0020 a0001c0025 a0001c0026 a0001c0029 a0001c0031 a0002c0003 a0002c0030 a0003c0005 a0003c0011 a0004c0010 a0005c0018 a0006c0023 a0007c0024 a0008c0027 a0009c0028 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0001t0056 a0001c0001t0058 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0082 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0002t0032 a0001c0002t0036 a0001c0002t0038 a0001c0002t0052 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0079 a0001c0002t0080 a0001c0002t0084 a0001c0004t0007 a0001c0004t0010 a0001c0004t0025 a0001c0004t0063 a0001c0004t0081 a0001c0008t0040 a0001c0008t0085 a0001c0009t0067 a0001c0009t0074 a0001c0013t0001 a0001c0013t0041 a0001c0016t0020 a0001c0017t0054 a0001c0020t0005 a0001c0025t0044 a0001c0026t0001 a0001c0029t0065 a0001c0031t0037 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0013 a0002c0003t0059 a0002c0003t0075 a0002c0030t0047 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009 a0003c0011t0001 a0004c0010t0026 a0004c0010t0060 a0005c0018t0012 a0006c0023t0025 a0007c0024t0007 a0008c0027t0078 a0009c0028t0015 a0010c0019t0002	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0055 others(145): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0086 a0001c0001t0002g0176 a0001c0001t0003g0013 a0001c0001t0003g0049 a0001c0001t0003g0168 a0001c0001t0004g0046 a0001c0001t0005g0184 a0001c0001t0006g0155 a0001c0001t0007g0054 a0001c0001t0008g0064 a0001c0001t0008g0097 a0001c0001t0011g0022 a0001c0001t0011g0047 a0001c0001t0013g0002 a0001c0001t0014g0069 a0001c0001t0014g0132 a0001c0001t0016g0035 a0001c0001t0018g0164 a0001c0001t0019g0101 a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0022g0061 a0001c0001t0023g0072 a0001c0001t0030g0162 a0001c0001t0031g0167 a0001c0001t0033g0197 a0001c0001t0034g0075 a0001c0001t0035g0194 a0001c0001t0042g0124 a0001c0001t0043g0060 a0001c0001t0046g0042 a0001c0001t0048g0151 a0001c0001t0056g0204 a0001c0001t0058g0043 a0001c0001t0066g0092 a0001c0001t0069g0115 a0001c0001t0070g0100 a0001c0001t0076g0170 a0001c0001t0082g0067 a0001c0002t0001g0014 a0001c0002t0001g0019 a0001c0002t0001g0058 a0001c0002t0001g0080 a0001c0002t0001g0095 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0153 a0001c0002t0001g0187 a0001c0002t0001g0210 a0001c0002t0002g0091 a0001c0002t0002g0135 a0001c0002t0002g0146 a0001c0002t0002g0169 a0001c0002t0002g0180 a0001c0002t0003g0052 a0001c0002t0003g0074 a0001c0002t0003g0120 a0001c0002t0003g0144 a0001c0002t0003g0147 a0001c0002t0005g0081 a0001c0002t0005g0141 a0001c0002t0005g0152 a0001c0002t0005g0186 a0001c0002t0008g0083 a0001c0002t0008g0094 a0001c0002t0008g0098 a0001c0002t0015g0118 a0001c0002t0015g0163 a0001c0002t0016g0015 a0001c0002t0016g0195 a0001c0002t0017g0202 a0001c0002t0018g0198 a0001c0002t0032g0192 a0001c0002t0036g0157 a0001c0002t0038g0077 a0001c0002t0052g0199 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0002t0064g0182 a0001c0002t0079g0188 a0001c0002t0080g0076 a0001c0002t0084g0138 a0001c0004t0007g0071 a0001c0004t0010g0130 a0001c0004t0025g0205 a0001c0004t0063g0016 a0001c0004t0081g0031 a0001c0008t0040g0021 a0001c0008t0085g0003 a0001c0009t0067g0145 a0001c0009t0074g0117 a0001c0013t0001g0104 a0001c0013t0041g0025 a0001c0016t0020g0108 a0001c0017t0054g0134 a0001c0020t0005g0196 a0001c0025t0044g0109 a0001c0026t0001g0160 a0001c0029t0065g0131 a0001c0031t0037g0156 a0002c0003t0001g0018 a0002c0003t0001g0142 a0002c0003t0002g0102 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0123 a0002c0003t0004g0128 a0002c0003t0006g0050 a0002c0003t0006g0066 a0002c0003t0009g0078 a0002c0003t0013g0137 a0002c0003t0059g0037 a0002c0003t0075g0084 a0002c0030t0047g0206 a0003c0005t0001g0171 a0003c0005t0001g0172 a0003c0005t0006g0053 a0003c0005t0009g0010 a0003c0005t0009g0136 a0003c0011t0001g0185 a0004c0010t0026g0122 a0004c0010t0026g0207 a0004c0010t0060g0087 a0005c0018t0012g0030 a0006c0023t0025g0007 a0007c0024t0007g0173 a0008c0027t0078g0082 a0009c0028t0015g0209 a0010c0019t0002g0028	148	210	0.7048	25	c.438 others(44): Show c.438+32565_438+32589dupGTGAACAGAGCCAGCGAGGGGTGCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276676	C C	CGTGAACA others(18): Show CGTGAACAGAGCCAGCGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19005.hp2 NA19080.hp1 HG00423.hp2 NA19005.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0023 a0001c0002t0018 a0001c0009t0005 a0001c0001t0023 a0001c0002t0018 a0001c0009t0005	a0001c0001t0023g0112 a0001c0002t0018g0085 a0001c0009t0005g0200 a0001c0001t0023g0112 a0001c0002t0018g0085 a0001c0009t0005g0200	3	210	0.0143	25	c.438 others(44): Show c.438+32563_438+32564insTGTGAACAGAGCCAGCGAGGGGTGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3276691	C C	CGAGGGGT others(18): Show CGAGGGGTGCCGTGAACAGAGCCAGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0090 a0001c0001t0088g0090	1	210	0.0048	25	c.438 others(44): Show c.438+32578_438+32579insTGAGGGGTGCCGTGAACAGAGCCAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM5_chr4_120686915_120927726	120872150	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	298	0.0034	25	c.178 others(44): Show c.178-18611_178-18610insTTTTTTTTTTTTTTTTTTTTTTTTT	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding	2/15			chr4	TogoVar
PRDX2_chr19_12791823_12806800	12805131	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	412	0.0049	25	c.-34 others(36): Show c.-3426_-3402dupTTTTTTTTTTTTTTTTTTTTTTTTT	PRDX2	ENSG00000167815.12	transcript	ENST00000301522.3	protein_coding		3332		chr19	TogoVar
PRDX4_chrX_23662493_23691397	23665838	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01346.hp1 HG01516.hp2 others(8): Show HG00438.hp2 HG01346.hp1 HG01516.hp2 HG02080.hp1 HG02738.hp1 HG04199.hp1 NA18946.hp2 NA18952.hp1 NA18966.hp1 NA18981.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0025 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0159	11	349	0.0315	25	c.-17 others(36): Show c.-1733_-1732insAAAAAAAAAAAAAAAAAAAAAACAG	PRDX4	ENSG00000123131.13	transcript	ENST00000379341.9	protein_coding		1654		chrX	TogoVar
PRELID2_chr5_145751344_145840342	145821152	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	258	0.0039	25	c.134 others(42): Show c.134-1135_134-1134insACACACACACACACACACACACACA	PRELID2	ENSG00000186314.12	transcript	ENST00000683046.1	protein_coding	2/6			chr5	TogoVar
PREX1_chr20_48619252_48832999	48661440	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0021 a0003c0026t0021	a0003c0026t0021g0260 a0003c0026t0021g0260	1	268	0.0037	25	c.173 others(44): Show c.1739-1380_1739-1379insATATATATATATATATATATATATA	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48661444	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0108 a0001c0005t0004g0108	1	268	0.0037	25	c.173 others(44): Show c.1739-1384_1739-1383insATATATATATATATATATATATATT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	15/39			chr20	TogoVar
PREX2_chr8_67947046_68242032	68105681	T T	TATATATA others(18): Show TATATATATATATATATATAAGGATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0049 a0001c0021t0049	a0001c0021t0049g0087 a0001c0021t0049g0087	1	190	0.0053	25	c.271 others(44): Show c.2716-2428_2716-2427insATATATATATATATATATAAGGATA	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding	23/39			chr8	TogoVar
PRF1_chr10_70592348_70607741	70601840	A A	AAAAAAAA others(18): Show AAAAAAAAAAGAGAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0012 a0001c0018 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0003t0001 a0001c0006t0002 a0001c0009t0001 a0001c0012t0001 a0001c0018t0001 a0013c0020t0001	a0001c0001t0001g0050 a0001c0001t0002g0057 a0001c0001t0002g0058 others(22): Show a0001c0001t0001g0050 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0003g0017 a0001c0001t0003g0048 a0001c0001t0004g0007 a0001c0001t0004g0023 a0001c0001t0004g0049 a0001c0001t0004g0056 a0001c0001t0005g0014 a0001c0001t0007g0028 a0001c0001t0012g0029 a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0052 a0001c0002t0013g0043 a0001c0002t0017g0059 a0001c0002t0018g0047 a0001c0003t0001g0003 a0001c0006t0002g0015 a0001c0009t0001g0022 a0001c0012t0001g0030 a0001c0018t0001g0060 a0013c0020t0001g0051	131	442	0.2964	25	c.-31 others(40): Show c.-31+804_-31+805insCTTTTTTTTCTTTCTCTTTTTTTTT	PRF1	ENSG00000180644.8	transcript	ENST00000441259.2	protein_coding	1/2			chr10	TogoVar
PRIM2_chr6_57312630_57651850	57418383	G G	GGTTTTTT others(18): Show GGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	300	0.0033	25	c.693 others(44): Show c.693+36215_693+36216insGTTTTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13			chr6	TogoVar
PRIM2_chr6_57312630_57651850	57446418	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0269 a0002c0004t0004g0269	1	300	0.0033	25	c.694 others(44): Show c.694-60967_694-60966insCTTTTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57542939	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	300	0.0033	25	c.102 others(44): Show c.1020+5333_1020+5334insTTTTTTTTTTTTTTTTTTTTTTTTT	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0191 a0001c0002t0191	a0001c0002t0191g0024 a0001c0002t0191g0024	1	412	0.0024	25	c.94+ others(40): Show c.94+9800_94+9801insATATATATATATATATTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0099 a0001c0003t0068 a0001c0001t0099 a0001c0003t0068	a0001c0001t0099g0127 a0001c0003t0068g0137 a0001c0001t0099g0127 a0001c0003t0068g0137	2	412	0.0049	25	c.94+ others(40): Show c.94+9800_94+9801insATATATATATATATTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03486.hp1 HG01361.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0097 a0001c0002t0190 a0001c0001t0097 a0001c0002t0190	a0001c0001t0097g0126 a0001c0002t0190g0025 a0001c0001t0097g0126 a0001c0002t0190g0025	2	412	0.0049	25	c.94+ others(40): Show c.94+9800_94+9801insATATATATATATTTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19003.hp2 NA19077.hp2 HG00099.hp2 NA19003.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0042 a0001c0003t0091 a0001c0003t0030 a0001c0003t0042 a0001c0003t0091	a0001c0003t0030g0149 a0001c0003t0042g0153 a0001c0003t0091g0148 a0001c0003t0030g0149 a0001c0003t0042g0153 a0001c0003t0091g0148	3	412	0.0073	25	c.94+ others(40): Show c.94+9800_94+9801insATATATATATTTTTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAA2_chr1_56640314_56720335	56655280	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0192 a0001c0003t0192	a0001c0003t0192g0135 a0001c0003t0192g0135	1	412	0.0024	25	c.94+ others(40): Show c.94+9800_94+9801insATATATATTTTTTTTTTTTTTTTTT	PRKAA2	ENSG00000162409.12	transcript	ENST00000371244.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151618453	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	252	0.0040	25	c.754 others(44): Show c.754+13591_754+13615dupATTTTATTTTATTTTATTTTATTTT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151724712	G G	GGAGCAGC others(18): Show GGAGCAGCCGCTTGCCCGCCCCACAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02818.hp1 others(1): Show HG01109.hp2 HG02630.hp2 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0138 a0001c0001t0002g0076 a0001c0001t0015g0240 others(1): Show a0001c0001t0001g0138 a0001c0001t0002g0076 a0001c0001t0015g0240 a0001c0001t0018g0007	4	252	0.0159	25	c.467 others(44): Show c.467-49100_467-49076dupTTGTGGGGCGGGCAAGCGGCTGCTC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151842371	T T	TGATGGTA others(18): Show TGATGGTAGGTAGTGATGATGGTAGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0139 a0001c0001t0006g0060 a0001c0001t0010g0159 others(1): Show a0001c0001t0002g0139 a0001c0001t0006g0060 a0001c0001t0010g0159 a0001c0001t0010g0160	4	252	0.0159	25	c.114 others(44): Show c.114+34135_114+34136insGCTACCATCATCACTACCTACCATC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855094	T T	TCCACACA others(18): Show TCCACACACCACCCTCCACACACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	252	0.0040	25	c.114 others(44): Show c.114+21412_114+21413insGTGGTGTGTGGAGGGTGGTGTGTGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR2A_chr3_48741586_48852874	48836419	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 NA20752.hp1 HG01255.hp1 HG02280.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0005 a0001c0001t0003 a0002c0003t0005	a0001c0001t0003g0014 a0001c0001t0003g0152 a0002c0003t0005g0032 a0001c0001t0003g0014 a0001c0001t0003g0152 a0002c0003t0005g0032	3	166	0.0181	25	c.262 others(44): Show c.262+10891_262+10915dupTTTTTTTTTTTTTTTTTTTTTTTTT	PRKAR2A	ENSG00000114302.17	transcript	ENST00000265563.13	protein_coding	1/10			chr3	TogoVar
PRKCA_chr17_66297613_66815743	66406585	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0076 a0001c0002t0001 a0001c0002t0076	a0001c0002t0001g0146 a0001c0002t0076g0032 a0001c0002t0001g0146 a0001c0002t0076g0032	2	178	0.0112	25	c.206 others(44): Show c.206-89592_206-89591insTTTTTTTTTTTTTTTTTTTTTTTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66483451	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 NA18979.hp1 HG00140.hp1 HG01074.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0010 a0001c0003t0013 a0001c0001t0002 a0001c0002t0010 a0001c0003t0013	a0001c0001t0002g0061 a0001c0002t0010g0057 a0001c0003t0013g0059 a0001c0001t0002g0061 a0001c0002t0010g0057 a0001c0003t0013g0059	3	178	0.0169	25	c.206 others(44): Show c.206-12745_206-12721dupATTTTATTTTATTTTATTTTATTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66495525	G G	GTATTTTA others(18): Show GTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp1 others(8): Show HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG02055.hp1 HG03540.hp1 HG03688.hp1 HG06807.hp2 NA18942.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0003c0007	a0001c0001t0005 a0001c0001t0013 a0001c0001t0028 others(6): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0028 a0001c0001t0044 a0001c0001t0048 a0001c0001t0093 a0001c0003t0004 a0001c0005t0012 a0003c0007t0003	a0001c0001t0005g0009 a0001c0001t0013g0027 a0001c0001t0013g0163 others(8): Show a0001c0001t0005g0009 a0001c0001t0013g0027 a0001c0001t0013g0163 a0001c0001t0028g0141 a0001c0001t0044g0165 a0001c0001t0048g0049 a0001c0001t0093g0139 a0001c0003t0004g0101 a0001c0005t0012g0047 a0001c0005t0012g0048 a0003c0007t0003g0018	11	178	0.0618	25	c.206 others(40): Show c.206-659_206-635dupATTTTATTTTATTTTATTTTATTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23875563	A A	ATATGTAT others(18): Show ATATGTATGTATATCACACACATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03017.hp1 HG01123.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0046 a0001c0009t0038 a0001c0001t0046 a0001c0009t0038	a0001c0001t0046g0029 a0001c0009t0038g0056 a0001c0001t0046g0029 a0001c0009t0038g0056	2	148	0.0135	25	c.205 others(44): Show c.205+38158_205+38159insATGTATGTATATCACACACATATGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar

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