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	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
PDSS2_chr6_107147562_107464564	107464058	ATTTATAT others(8): Show ATTTATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	260	0.0039	-15	c.-47 others(26): Show c.-4788_-4774delATATATATATATAAA		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding					4495		chr6	TogoVar
PDX1_chr13_27915000_27931313	27925474	CCCTCCTC others(8): Show CCCTCCTCTTCCTCTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG02922.hp2 others(2): Show HG01243.hp1 HG01358.hp1 HG02922.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	5	434	0.0115	-15	c.78 others(24): Show c.785_*799delTCTTCCTCCTCTTCC		PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding	2/2				785	INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD2_chr5_31634131_32115932	31677615	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01433.hp1 HG01884.hp2 others(9): Show HG00621.hp2 HG01433.hp1 HG01884.hp2 HG01952.hp1 HG02486.hp2 HG02647.hp1 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18948.hp2 NA18989.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0016 a0017	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0005c0045 a0007c0013 a0016c0032 a0017c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0044 a0002c0002t0008 a0002c0003t0002 a0003c0004t0012 a0005c0045t0038 a0007c0013t0001 a0016c0032t0001 a0017c0048t0002	a0001c0001t0001g0037 a0001c0001t0002g0117 a0001c0001t0005g0010 others(9): Show a0001c0001t0001g0037 a0001c0001t0002g0117 a0001c0001t0005g0010 a0001c0001t0044g0006 a0002c0002t0008g0175 a0002c0003t0002g0164 a0002c0003t0002g0171 a0003c0004t0012g0013 a0005c0045t0038g0176 a0007c0013t0001g0200 a0016c0032t0001g0048 a0017c0048t0002g0062	12	216	0.0556	-15	c.-36 others(36): Show c.-361+38192_-361+38206delAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31740524	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02717.hp2 others(5): Show HG01884.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03471.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0001c0007 a0001c0056 others(2): Show a0001c0001 a0001c0007 a0001c0056 a0002c0003 a0018c0047	a0001c0001t0001 a0001c0007t0009 a0001c0007t0047 others(3): Show a0001c0001t0001 a0001c0007t0009 a0001c0007t0047 a0001c0056t0001 a0002c0003t0002 a0018c0047t0001	a0001c0001t0001g0045 a0001c0007t0009g0058 a0001c0007t0009g0142 others(5): Show a0001c0001t0001g0045 a0001c0007t0009g0058 a0001c0007t0009g0142 a0001c0007t0009g0172 a0001c0007t0047g0035 a0001c0056t0001g0053 a0002c0003t0002g0192 a0018c0047t0001g0189	8	216	0.0370	-15	c.-36 others(36): Show c.-360-58345_-360-58331delAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31881408	ATTGCCCA others(8): Show ATTGCCCAGGCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0166 a0004c0006t0010g0166	1	216	0.0046	-15	c.476 others(34): Show c.476+81688_476+81702delCCCAGGCTGGAGTTG		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31929970	ATGCGAGG others(8): Show ATGCGAGGTCAGGTTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	216	0.0046	-15	c.477 others(34): Show c.477-53181_477-53167delGAGGTCAGGTTGTGC		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0061 a0006c0016t0001g0061	1	216	0.0046	-15	c.477 others(34): Show c.477-13634_477-13620delAAAAAAAAAAAAAAA		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32086806	AGCTGGGA others(8): Show AGCTGGGATTACAGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp2 others(14): Show HG01243.hp1 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA18522.hp2 NA19030.hp1 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0013 a0029	a0001c0056 a0002c0002 a0004c0006 others(5): Show a0001c0056 a0002c0002 a0004c0006 a0004c0029 a0006c0015 a0006c0016 a0013c0019 a0029c0055	a0001c0056t0001 a0002c0002t0008 a0004c0006t0007 others(8): Show a0001c0056t0001 a0002c0002t0008 a0004c0006t0007 a0004c0006t0010 a0004c0029t0049 a0006c0015t0040 a0006c0015t0046 a0006c0016t0001 a0006c0016t0002 a0013c0019t0007 a0029c0055t0028	a0001c0056t0001g0053 a0002c0002t0008g0175 a0004c0006t0007g0179 others(14): Show a0001c0056t0001g0053 a0002c0002t0008g0175 a0004c0006t0007g0179 a0004c0006t0007g0190 a0004c0006t0007g0201 a0004c0006t0007g0202 a0004c0006t0010g0073 a0004c0006t0010g0166 a0004c0006t0010g0173 a0004c0006t0010g0206 a0004c0029t0049g0001 a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0001g0061 a0006c0016t0002g0043 a0013c0019t0007g0205 a0029c0055t0028g0054	17	216	0.0787	-15	c.368 others(32): Show c.3683-322_3683-308delTGGGATTACAGGTGC		PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	19/24					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101019542	GCCTCCTC others(8): Show GCCTCCTCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00609.hp2 others(119): Show HG00323.hp2 HG00438.hp2 HG00609.hp2 HG01081.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp2 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013 a0014 a0015 a0016 a0017 a0018 a0021	a0001c0001 a0001c0012 a0001c0026 others(20): Show a0001c0001 a0001c0012 a0001c0026 a0002c0002 a0002c0008 a0002c0021 a0002c0030 a0003c0003 a0003c0032 a0003c0034 a0004c0004 a0004c0016 a0004c0020 a0005c0005 a0006c0006 a0007c0007 a0013c0024 a0014c0036 a0015c0028 a0016c0035 a0017c0029 a0018c0031 a0021c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0012t0002 a0001c0012t0003 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0008t0003 a0002c0008t0004 a0002c0021t0004 a0002c0030t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0032t0009 a0003c0034t0005 a0004c0004t0006 a0004c0016t0001 a0004c0020t0006 a0005c0005t0001 a0006c0006t0003 a0006c0006t0004 a0007c0007t0001 a0013c0024t0001 a0014c0036t0001 a0015c0028t0004 a0016c0035t0001 a0017c0029t0002 a0018c0031t0013 a0021c0040t0001	a0001c0001t0001g0106 a0001c0001t0001g0144 a0001c0001t0001g0147 others(117): Show a0001c0001t0001g0106 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0002g0178 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0216 a0001c0001t0002g0230 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0003g0211 a0001c0001t0003g0237 a0001c0001t0004g0127 a0001c0001t0004g0155 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0192 a0001c0001t0004g0205 a0001c0001t0004g0236 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0005g0130 a0001c0001t0005g0137 a0001c0001t0005g0156 a0001c0001t0005g0158 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0208 a0001c0001t0005g0213 a0001c0001t0005g0250 a0001c0001t0006g0196 a0001c0001t0009g0031 a0001c0012t0002g0014 a0001c0012t0003g0016 a0001c0012t0003g0017 a0001c0026t0001g0133 a0002c0002t0001g0003 a0002c0002t0001g0083 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0212 a0002c0002t0001g0223 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0243 a0002c0002t0001g0249 a0002c0002t0002g0160 a0002c0002t0002g0202 a0002c0002t0002g0248 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0099 a0002c0002t0003g0143 a0002c0002t0003g0162 a0002c0002t0003g0189 a0002c0002t0003g0225 a0002c0002t0003g0246 a0002c0002t0003g0374 a0002c0002t0004g0145 a0002c0002t0004g0154 a0002c0002t0004g0163 a0002c0002t0004g0186 a0002c0002t0004g0187 a0002c0002t0004g0191 a0002c0002t0004g0238 a0002c0002t0005g0107 a0002c0002t0005g0161 a0002c0008t0003g0215 a0002c0008t0003g0247 a0002c0008t0004g0217 a0002c0021t0004g0015 a0002c0030t0002g0167 a0003c0003t0001g0190 a0003c0003t0002g0166 a0003c0003t0002g0168 a0003c0003t0002g0201 a0003c0003t0004g0146 a0003c0003t0004g0188 a0003c0003t0004g0197 a0003c0003t0004g0224 a0003c0003t0005g0419 a0003c0032t0009g0039 a0003c0034t0005g0165 a0004c0004t0006g0152 a0004c0016t0001g0181 a0004c0020t0006g0018 a0005c0005t0001g0176 a0005c0005t0001g0207 a0005c0005t0001g0219 a0006c0006t0003g0001 a0006c0006t0003g0009 a0006c0006t0003g0011 a0006c0006t0004g0010 a0006c0006t0004g0012 a0006c0006t0004g0013 a0007c0007t0001g0179 a0013c0024t0001g0180 a0014c0036t0001g0235 a0015c0028t0004g0220 a0016c0035t0001g0150 a0017c0029t0002g0240 a0018c0031t0013g0067 a0021c0040t0001g0221	122	432	0.2824	-15	c.929 others(30): Show c.929-340_929-326delAGGAGGAGGAGGAGG		PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16						chr10	TogoVar
PDZD7_chr10_101002679_101036129	101019574	CTCCTCCT others(8): Show CTCCTCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0194 a0002c0002t0004g0194	1	432	0.0023	-15	c.929 others(30): Show c.929-372_929-358delAGAGGAGGAGGAGGA		PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16						chr10	TogoVar
PDZD8_chr10_117272274_117380440	117282925	AAAAACCA others(8): Show AAAAACCAAGAGGAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0232 a0001c0001t0064g0232	1	322	0.0031	-15	c.32 others(24): Show c.328_*342delCTTCCTCTTGGTTTT		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	5/5				328		chr10	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01516.hp2 others(13): Show HG01361.hp2 HG01496.hp1 HG01516.hp2 HG02630.hp2 NA18952.hp1 NA18959.hp1 NA18963.hp2 NA18975.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19060.hp1 NA19064.hp2 NA19068.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0013 a0001c0001 a0001c0002 a0008c0013	a0001c0001t0001 a0001c0001t0010 a0001c0001t0054 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0054 a0001c0001t0056 a0001c0002t0001 a0008c0013t0052	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(13): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0258 a0001c0001t0001g0272 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0295 a0001c0001t0010g0236 a0001c0001t0054g0256 a0001c0001t0056g0214 a0001c0002t0001g0309 a0008c0013t0052g0257	16	322	0.0497	-15	c.872 others(34): Show c.872+16575_872+16589delTTTTTTTTTTTTTTT		PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4						chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73416734	GTGGGGGA others(8): Show GTGGGGGAAGCTCTAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	216	0.0046	-15	c.919 others(34): Show c.919-12354_919-12340delGTAGAGCTTCCCCCA		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563001	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03453.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0002 a0001c0010t0003 a0001c0001t0002 a0001c0002t0002 a0001c0010t0003	a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0010t0003g0185 others(1): Show a0001c0001t0002g0129 a0001c0002t0002g0128 a0001c0010t0003g0185 a0001c0010t0003g0186	4	216	0.0185	-15	c.918 others(34): Show c.918+39338_918+39352delAAATATATATATATA		PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9						chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41383969	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0091 a0002c0017t0002g0091	1	206	0.0049	-15	c.844 others(36): Show c.844-122450_844-122436delTTTTTTTTTTTTTTT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402268	ATATATAC others(8): Show ATATATACACACTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02886.hp1 others(3): Show HG00738.hp1 HG01109.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG06807.hp2	a0003 a0018 a0003 a0018	a0003c0006 a0018c0035 a0003c0006 a0018c0035	a0003c0006t0001 a0018c0035t0001 a0003c0006t0001 a0018c0035t0001	a0003c0006t0001g0005 a0003c0006t0001g0095 a0003c0006t0001g0096 others(3): Show a0003c0006t0001g0005 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0018c0035t0001g0094	6	206	0.0291	-15	c.844 others(36): Show c.844-104181_844-104167delCACACTGTGTATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402295	ATATACAC others(8): Show ATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp2 NA18980.hp2 others(3): Show HG00621.hp1 HG02071.hp2 NA18980.hp2 NA18983.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0004 a0002c0009 a0003c0006 others(1): Show a0001c0004 a0002c0009 a0003c0006 a0004c0012	a0001c0004t0001 a0001c0004t0005 a0002c0009t0001 others(3): Show a0001c0004t0001 a0001c0004t0005 a0002c0009t0001 a0002c0009t0005 a0003c0006t0001 a0004c0012t0001	a0001c0004t0001g0011 a0001c0004t0005g0051 a0002c0009t0001g0190 others(3): Show a0001c0004t0001g0011 a0001c0004t0005g0051 a0002c0009t0001g0190 a0002c0009t0005g0194 a0003c0006t0001g0079 a0004c0012t0001g0039	6	206	0.0291	-15	c.844 others(36): Show c.844-104156_844-104142delCACACAGTGTGTATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402609	ATATATAT others(8): Show ATATATATATACTGAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0165 a0005c0008t0001g0165	1	206	0.0049	-15	c.844 others(36): Show c.844-103836_844-103822delCTGAGTATATATATA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77193803	TAACTAAA others(8): Show TAACTAAACTAAACTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(83): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp2 NA19009.hp1 NA19054.hp1 NA19063.hp2 NA19068.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0014	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0009c0012 a0014c0013	a0001c0001t0007 a0002c0002t0003 a0002c0002t0004 others(12): Show a0001c0001t0007 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0002c0002t0015 a0002c0002t0019 a0002c0002t0026 a0002c0002t0027 a0002c0002t0033 a0002c0002t0048 a0002c0002t0049 a0004c0005t0004 a0009c0012t0032 a0014c0013t0032	a0001c0001t0007g0263 a0002c0002t0003g0200 a0002c0002t0003g0207 others(83): Show a0001c0001t0007g0263 a0002c0002t0003g0200 a0002c0002t0003g0207 a0002c0002t0003g0212 a0002c0002t0003g0214 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0224 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0309 a0002c0002t0004g0189 a0002c0002t0004g0191 a0002c0002t0004g0195 a0002c0002t0004g0197 a0002c0002t0004g0198 a0002c0002t0004g0219 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0226 a0002c0002t0004g0231 a0002c0002t0004g0232 a0002c0002t0004g0242 a0002c0002t0004g0244 a0002c0002t0004g0246 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0004g0283 a0002c0002t0004g0290 a0002c0002t0004g0319 a0002c0002t0007g0181 a0002c0002t0007g0182 a0002c0002t0007g0184 a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0278 a0002c0002t0012g0286 a0002c0002t0012g0287 a0002c0002t0015g0111 a0002c0002t0015g0112 a0002c0002t0019g0190 a0002c0002t0019g0225 a0002c0002t0019g0227 a0002c0002t0026g0209 a0002c0002t0026g0238 a0002c0002t0027g0216 a0002c0002t0027g0304 a0002c0002t0033g0220 a0002c0002t0033g0267 a0002c0002t0048g0245 a0002c0002t0049g0279 a0004c0005t0004g0192 a0004c0005t0004g0193 a0004c0005t0004g0194 a0004c0005t0004g0196 a0004c0005t0004g0199 a0004c0005t0004g0243 a0004c0005t0004g0261 a0009c0012t0032g0311 a0014c0013t0032g0310	86	326	0.2638	-15	c.-11 others(36): Show c.-114-11778_-114-11764delTAGTTTAGTTTAGTT		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9						chr15	TogoVar
PEAK1_chr15_77103158_77425104	77247470	TTTTTCTT others(8): Show TTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18747.hp2 HG00673.hp1 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0166 a0003c0003t0014g0167 a0003c0003t0014g0166 a0003c0003t0014g0167	2	326	0.0061	-15	c.-11 others(34): Show c.-115+4882_-115+4896delGAAAAGAAAAGAAAA		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9						chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01261.hp2 others(16): Show HG01109.hp2 HG01175.hp2 HG01261.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2 NA18992.hp2 NA19005.hp1 NA19062.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0005c0006 a0006c0007 a0012c0018	a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 others(11): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0046 a0001c0001t0054 a0001c0004t0009 a0001c0004t0018 a0001c0004t0045 a0002c0002t0004 a0002c0002t0015 a0005c0006t0011 a0006c0007t0010 a0006c0007t0024 a0012c0018t0010	a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 others(16): Show a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 a0001c0001t0040g0315 a0001c0001t0046g0314 a0001c0001t0054g0302 a0001c0004t0009g0258 a0001c0004t0018g0250 a0001c0004t0045g0252 a0002c0002t0004g0274 a0002c0002t0015g0110 a0002c0002t0015g0112 a0005c0006t0011g0108 a0005c0006t0011g0109 a0005c0006t0011g0256 a0006c0007t0010g0253 a0006c0007t0010g0257 a0006c0007t0024g0201 a0012c0018t0010g0255	19	326	0.0583	-15	c.-60 others(36): Show c.-602-11708_-602-11694delAAAAAAAAAAAAAAA		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
PEAK1_chr15_77103158_77425104	77391476	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp1 others(11): Show HG00323.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01175.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01978.hp2 HG01993.hp2 NA18992.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 others(3): Show a0001c0004t0009 a0001c0004t0018 a0001c0004t0021 a0001c0004t0044 a0001c0004t0045 a0001c0004t0050	a0001c0004t0009g0258 a0001c0004t0009g0294 a0001c0004t0009g0296 others(11): Show a0001c0004t0009g0258 a0001c0004t0009g0294 a0001c0004t0009g0296 a0001c0004t0009g0298 a0001c0004t0009g0299 a0001c0004t0009g0301 a0001c0004t0018g0248 a0001c0004t0018g0250 a0001c0004t0018g0297 a0001c0004t0021g0251 a0001c0004t0021g0300 a0001c0004t0044g0295 a0001c0004t0045g0252 a0001c0004t0050g0249	14	326	0.0429	-15	c.-66 others(36): Show c.-665-26266_-665-26252delTTTTTTTTTTTTTTT		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9						chr15	TogoVar
PEAR1_chr1_156888718_156921429	156913391	GTTCCAGG others(8): Show GTTCCAGGCCCGCTCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG02258.hp1 HG02280.hp2 others(6): Show HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02976.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2	a0006 a0008 a0006 a0008	a0006c0017 a0006c0049 a0008c0022 a0006c0017 a0006c0049 a0008c0022	a0006c0017t0002 a0006c0049t0001 a0008c0022t0002 a0006c0017t0002 a0006c0049t0001 a0008c0022t0002	a0006c0017t0002g0013 a0006c0017t0002g0053 a0006c0017t0002g0186 others(4): Show a0006c0017t0002g0013 a0006c0017t0002g0053 a0006c0017t0002g0186 a0006c0049t0001g0183 a0008c0022t0002g0122 a0008c0022t0002g0123 a0008c0022t0002g0124	9	384	0.0234	-15	c.251 others(24): Show c.2515_2529delCCAGGCCCGCTCTTT	p.Pro others(13): Show p.Pro839_Phe843del	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	20/23	2644/4874	2515/3114	839/1037		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP1_chr12_118131124_118150584	118132767	CACAAAAC others(8): Show CACAAAACAAAACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	426	0.0024	-15	c.-34 others(26): Show c.-3442_-3428delACAAAACAAAACAAA		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					3356		chr12	TogoVar
PEBP1_chr12_118131124_118150584	118142826	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0060 a0001c0001t0003g0061	2	426	0.0047	-15	c.347 others(32): Show c.347-1743_347-1729delTTTTTTTTTTTTTTT		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEBP1_chr12_118131124_118150584	118146749	CATGGTAA others(8): Show CATGGTAAAACACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	426	0.0024	-15	c.19 others(26): Show c.1947_*1961delATGGTAAAACACCAT		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					1166		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22798716	CTTTTCTT others(8): Show CTTTTCTTTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp1 HG03130.hp2 others(1): Show HG02145.hp2 HG03041.hp1 HG03130.hp2 HG06807.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0009 a0002c0002 a0003c0003 a0007c0009	a0002c0002t0001 a0003c0003t0003 a0007c0009t0002 a0002c0002t0001 a0003c0003t0003 a0007c0009t0002	a0002c0002t0001g0041 a0003c0003t0003g0081 a0003c0003t0003g0135 others(1): Show a0002c0002t0001g0041 a0003c0003t0003g0081 a0003c0003t0003g0135 a0007c0009t0002g0172	4	278	0.0144	-15	c.357 others(34): Show c.357+18906_357+18920delAAAGAAAAAAGAAAA		PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6						chr8	TogoVar
PEG3_chr19_56805082_56845726	56836969	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04228.hp1 HG04184.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	2	416	0.0048	-15	c.-24 others(32): Show c.-249-880_-249-866delTTTTTTTTTTTTTTT		PEG3	ENSG00000198300.14	transcript	ENST00000326441.15	protein_coding	1/9						chr19	TogoVar
PELI2_chr14_56113411_56306524	56120009	ACCGCACA others(8): Show ACCGCACAACTCAAAG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	368	0.0027	-15	c.77+ others(30): Show c.77+1274_77+1288delCGCACAACTCAAAGC		PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
PELP1_chr17_4664774_4709137	4668938	TATATATA others(8): Show TATATATATATCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(24): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG01361.hp1 HG01978.hp2 HG02027.hp2 HG02615.hp2 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp1 HG03239.hp1 HG03927.hp1 HG03942.hp2 NA18941.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18983.hp1 NA18993.hp1 NA19000.hp2 NA19006.hp2 NA19012.hp1 NA19012.hp2 NA19070.hp2 NA19088.hp1 NA20300.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0006 a0001c0028 others(1): Show a0001c0001 a0001c0006 a0001c0028 a0015c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 a0001c0006t0001 a0001c0028t0001 a0015c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0283 a0001c0001t0009g0024 a0001c0001t0009g0185 a0001c0001t0021g0117 a0001c0006t0001g0096 a0001c0006t0001g0104 a0001c0006t0001g0106 a0001c0028t0001g0191 a0015c0019t0001g0062	27	316	0.0854	-15	c.24 others(26): Show c.2486_*2500delGTGTGATATATATAT		PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding					835		chr17	TogoVar
PEMT_chr17_17500563_17596708	17506663	GAGGAGAT others(8): Show GAGGAGATTCTGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	348	0.0029	-15	c.579 others(30): Show c.579-377_579-363delGCCCCAGAATCTCCT		PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	5/6						chr17	TogoVar
PEMT_chr17_17500563_17596708	17534895	CTATTTTA others(8): Show CTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01884.hp1 HG02040.hp1 others(20): Show HG00544.hp2 HG01884.hp1 HG02040.hp1 HG02083.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03831.hp2 HG06807.hp2 NA18943.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18994.hp1 NA18998.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0005c0006t0001 a0001c0001t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0151 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0190 a0002c0002t0001g0194 a0005c0006t0001g0007 a0005c0006t0001g0008	23	348	0.0661	-15	c.205 others(34): Show c.205-12515_205-12501delAAATAAAATAAAATA		PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	2/6						chr17	TogoVar
PEMT_chr17_17500563_17596708	17586273	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0260 a0002c0002t0001g0261	2	348	0.0058	-15	c.96+ others(30): Show c.96+5243_96+5257delCTTTCTTTCTTTCTT		PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6						chr17	TogoVar
PER2_chr2_238239044_238293610	238260085	ATTCTAGG others(8): Show ATTCTAGGAGACCTCC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp2 HG02622.hp1 HG03540.hp2	a0001 a0001	a0001c0016 a0001c0017 a0001c0016 a0001c0017	a0001c0016t0036 a0001c0017t0001 a0001c0016t0036 a0001c0017t0001	a0001c0016t0036g0071 a0001c0017t0001g0070 a0001c0016t0036g0071 a0001c0017t0001g0070	2	370	0.0054	-15	c.154 others(30): Show c.1543-47_1543-33delGGAGGTCTCCTAGAA		PER2	ENSG00000132326.13	transcript	ENST00000254657.8	protein_coding	13/22						chr2	TogoVar
PERCC1_chr16_1426078_1439441	1432701	AGAGGAGG others(8): Show AGAGGAGGAGGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA19065.hp2 NA18998.hp2 NA19065.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0013 a0008c0010t0001 a0008c0010t0013	a0008c0010t0001g0001 a0008c0010t0013g0001 a0008c0010t0001g0001 a0008c0010t0013g0001	2	378	0.0053	-15	c.128 others(22): Show c.128_142delAGGAGGAGGAGGAGG	p.Glu others(11): Show p.Glu43_Glu47del	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding	2/2	206/1926	128/804	43/267		INFO_REALIGN_3_PRIME	chr16	TogoVar
PET117_chr20_18132863_18148169	18139663	TGTGTGTG others(8): Show TGTGTGTGTGTGTTTA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	424	0.0024	-15	c.96+ others(30): Show c.96+1613_96+1627delGTGTGTGTGTGTTTA		PET117	ENSG00000232838.4	transcript	ENST00000432901.4	protein_coding	1/1						chr20	TogoVar
PEX12_chr17_35569795_35583571	35583115	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02451.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0001g0001 a0001c0001t0003g0003	2	436	0.0046	-15	c.-51 others(26): Show c.-5109_-5095delAAAAAAAAAAAAAAA		PEX12	ENSG00000108733.11	transcript	ENST00000225873.9	protein_coding					4545		chr17	TogoVar
PEX14_chr1_10469950_10635758	10554359	TAAAGGGC others(8): Show TAAAGGGCAGACTCCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 NA19240.hp2 HG02559.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0128 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0128	3	258	0.0116	-15	c.169 others(34): Show c.169+18081_169+18095delGGGCAGACTCCAAAA		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577550	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0098 a0003c0010t0001g0098	1	258	0.0039	-15	c.170 others(34): Show c.170-21686_170-21672delATATATATATATTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577558	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03516.hp1 HG00423.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0024 a0001c0006t0001g0090 a0001c0001t0001g0024 a0001c0006t0001g0090	2	258	0.0078	-15	c.170 others(34): Show c.170-21678_170-21664delATATTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577562	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	258	0.0078	-15	c.170 others(34): Show c.170-21642_170-21628delTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10586628	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(27): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01928.hp1 HG01981.hp2 HG02056.hp1 HG02155.hp1 HG02451.hp1 HG02559.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2 NA18939.hp2 NA18947.hp1 NA18963.hp2 NA18964.hp1 NA18982.hp2 NA18995.hp1 NA19030.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0012 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0012t0001 a0002c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0086 a0001c0001t0001g0087 others(27): Show a0001c0001t0001g0019 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0246 a0001c0002t0001g0177 a0001c0002t0001g0195 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0079 a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0108 a0001c0003t0001g0151 a0001c0003t0001g0222 a0001c0003t0001g0238 a0001c0007t0001g0186 a0001c0007t0001g0210 a0001c0008t0001g0182 a0001c0012t0001g0059 a0002c0005t0001g0013 a0002c0005t0001g0127 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0005t0001g0206 a0002c0005t0001g0218	30	258	0.1163	-15	c.170 others(34): Show c.170-12595_170-12581delTTTTTTTTTTTTTTT		PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX1_chr7_92482025_92533520	92516008	AAAGAGAA others(8): Show AAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18995.hp2 NA21309.hp2 NA18522.hp2 NA18995.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0040 a0001c0001t0001g0095 a0001c0001t0002g0040	3	310	0.0097	-15	c.123 others(34): Show c.1239+1253_1239+1267delCTCTTCTCTTCTCTT		PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23						chr7	TogoVar
PEX1_chr7_92482025_92533520	92516050	AGAGAAAA others(8): Show AGAGAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00735.hp1 others(8): Show HG00558.hp2 HG00639.hp2 HG00735.hp1 HG01192.hp1 HG01243.hp1 HG01517.hp1 HG01943.hp2 HG03834.hp1 HG04228.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0104 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186	11	310	0.0355	-15	c.123 others(34): Show c.1239+1211_1239+1225delCTTTTCTTTTTTCTC		PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23						chr7	TogoVar
PEX1_chr7_92482025_92533520	92516053	GAAAAAAG others(8): Show GAAAAAAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	310	0.0032	-15	c.123 others(34): Show c.1239+1208_1239+1222delTTTCTTTTCTTTTTT		PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23						chr7	TogoVar
PEX5_chr12_7184686_7216459	7197237	AATAATTA others(8): Show AATAATTATATGTCAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03704.hp2 HG02486.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0153 a0002c0002t0001g0162 a0001c0001t0001g0153 a0002c0002t0001g0162	2	428	0.0047	-15	c.449 others(32): Show c.449-1771_449-1757delAATTATATGTCATAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203181	ATGCACTG others(8): Show ATGCACTGCACTGCAC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	428	0.0023	-15	c.847 others(30): Show c.847-224_847-210delGCACTGCACTGCACT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX7_chr6_136817592_136918934	136862034	TTATATAT others(8): Show TTATATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01981.hp2 HG02145.hp2 others(5): Show HG01255.hp2 HG01981.hp2 HG02145.hp2 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG03041.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0002c0002t0004	a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 others(5): Show a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0008g0015 a0001c0001t0009g0156 a0001c0001t0011g0153 a0002c0002t0004g0150	8	330	0.0242	-15	c.527 others(32): Show c.527-4571_527-4557delTATTATATATATATA		PEX7	ENSG00000112357.14	transcript	ENST00000318471.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
PF4_chr4_73975811_73987027	73982164	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02486.hp1 HG02615.hp1 others(4): Show HG02004.hp1 HG02486.hp1 HG02615.hp1 HG03098.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0002t0001g0005	7	366	0.0191	-15	c.-22 others(24): Show c.-226_-212delTTTTTTTTTTTTTTT		PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding					138		chr4	TogoVar
PFDN1_chr5_140240035_140308101	140264020	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 NA18963.hp2 HG00280.hp2 HG01070.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0170 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0170	3	330	0.0091	-15	c.285 others(34): Show c.285+17414_285+17428delTTTTTTTTTTTTTTT		PFDN1	ENSG00000113068.10	transcript	ENST00000261813.9	protein_coding	3/3						chr5	TogoVar

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