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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Select column to sort.

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Results per page.

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
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp1 HG03654.hp2 others(3): Show HG01952.hp1 HG02109.hp1 HG03654.hp2 NA18950.hp2 NA18956.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128	6	336	0.0179	44	c.665 others(63): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS55_chr8_10520532_10543819	10543481	T T	TTTCTTTC others(37): Show TTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0032 a0005c0005t0001g0032	1	480	0.0021	44	c.46 others(55): Show c.4688_*4689insTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTC	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4663		chr8	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	416	0.0024	44	c.870 others(61): Show c.870-1095_870-1094insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	276	0.0036	44	c.127 others(63): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18752558	A A	ATATATAC others(37): Show ATATATACTACATATATTATATATATAATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0051 a0003c0004t0051	a0003c0004t0051g0023 a0003c0004t0051g0023	1	228	0.0044	44	c.217 others(65): Show c.2172+12890_2172+12891insATATATAATATATATAATTATATA TATAATATATGTAGTATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18752558	A A	ATATATAT others(37): Show ATATATATTACATATATTATATATATAATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01074.hp2 others(18): Show HG00140.hp1 HG00609.hp2 HG01074.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01934.hp1 HG02071.hp1 HG02602.hp2 HG02735.hp1 HG03239.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18981.hp1 NA18989.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0004 a0004c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0063 a0001c0001t0078 a0001c0002t0001 a0001c0013t0001 a0002c0003t0007 a0002c0003t0011 a0002c0003t0013 a0002c0003t0034 a0002c0003t0040 a0002c0003t0084 a0002c0003t0085 a0003c0004t0001 a0003c0004t0008 a0003c0004t0080 a0004c0009t0076	a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0007g0114 a0001c0001t0029g0049 a0001c0001t0029g0098 a0001c0001t0063g0092 a0001c0001t0078g0217 a0001c0002t0001g0070 a0001c0013t0001g0007 a0002c0003t0007g0094 a0002c0003t0011g0115 a0002c0003t0013g0141 a0002c0003t0034g0042 a0002c0003t0040g0080 a0002c0003t0084g0228 a0002c0003t0085g0227 a0003c0004t0001g0067 a0003c0004t0008g0099 a0003c0004t0080g0221 a0004c0009t0076g0155	21	228	0.0921	44	c.217 others(65): Show c.2172+12890_2172+12891insATATATAATATATATAATTATATA TATAATATATGTAATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151878	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0128 a0001c0001t0006g0128	1	378	0.0027	44	c.87+ others(59): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT ATATATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN2_chr1_226865616_226901098	226880545	A A	AGACAGCG others(37): Show AGACAGCGATCACTCAGCCTCTGGACAGCGATCACTCAGCCTCTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	416	0.0024	44	c.-20 others(61): Show c.-20-1311_-20-1268dupCACTCAGCCTCTGGACAGCGATCACTCA GCCTCTGGACAGCGAT	PSEN2	ENSG00000143801.18	transcript	ENST00000366783.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSG5_chr19_43162743_43191536	43185857	C C	CCCCTGAT others(37): Show CCCCTGATGATTAATCAGGAAAACAGAACACTTAAGATTTTCCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(363): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0002c0002 a0002c0009 others(21): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0010 a0010c0011 a0010c0018 a0011c0012 a0012c0014 a0013c0016 a0014c0025 a0015c0022 a0016c0021 a0017c0023 a0018c0024 a0019c0019 a0020c0020 a0021c0017 a0022c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0009t0002 a0003c0003t0003 a0004c0004t0003 a0005c0005t0002 a0005c0005t0004 a0006c0006t0002 a0007c0007t0003 a0008c0008t0003 a0009c0010t0003 a0010c0011t0003 a0010c0018t0003 a0011c0012t0003 a0012c0014t0001 a0013c0016t0001 a0014c0025t0001 a0015c0022t0001 a0016c0021t0001 a0017c0023t0001 a0018c0024t0001 a0019c0019t0003 a0020c0020t0010 a0021c0017t0002 a0022c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(210): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0003g0101 a0001c0001t0003g0174 a0001c0001t0003g0203 a0001c0001t0006g0108 a0001c0001t0006g0132 a0001c0001t0007g0206 a0001c0001t0007g0207 a0002c0002t0002g0001 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0196 a0002c0002t0005g0199 a0002c0002t0005g0200 a0002c0002t0005g0201 a0002c0002t0008g0061 a0002c0002t0009g0208 a0002c0009t0002g0058 a0002c0009t0002g0224 a0002c0009t0002g0239 a0003c0003t0003g0093 a0004c0004t0003g0018 a0004c0004t0003g0019 a0004c0004t0003g0040 a0004c0004t0003g0097 a0004c0004t0003g0098 a0004c0004t0003g0099 a0004c0004t0003g0100 a0004c0004t0003g0186 a0004c0004t0003g0187 a0005c0005t0002g0209 a0005c0005t0004g0016 a0005c0005t0004g0034 a0005c0005t0004g0062 a0005c0005t0004g0063 a0005c0005t0004g0064 a0005c0005t0004g0065 a0005c0005t0004g0066 a0005c0005t0004g0067 a0006c0006t0002g0027 a0006c0006t0002g0213 a0006c0006t0002g0215 a0006c0006t0002g0220 a0007c0007t0003g0017 a0007c0007t0003g0091 a0007c0007t0003g0092 a0008c0008t0003g0014 a0008c0008t0003g0104 a0009c0010t0003g0053 a0009c0010t0003g0197 a0010c0011t0003g0105 a0010c0018t0003g0103 a0011c0012t0003g0188 a0011c0012t0003g0189 a0012c0014t0001g0069 a0013c0016t0001g0116 a0014c0025t0001g0183 a0015c0022t0001g0166 a0016c0021t0001g0170 a0017c0023t0001g0179 a0018c0024t0001g0152 a0019c0019t0003g0198 a0020c0020t0010g0234 a0021c0017t0002g0230 a0022c0015t0001g0115	366	430	0.8512	44	c.64+ others(57): Show c.64+484_64+485insTAGGAAAATCTTAAGTGTTCTGTTTTCCTGAT TAATCATCAGGG	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	1/5			chr19	TogoVar
PSG5_chr19_43162743_43191536	43185857	C C	CCCCTGAT others(37): Show CCCCTGATGATTAATCAGGAAAACAGAACGCTTAAGATTTTCCTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	430	0.0023	44	c.64+ others(57): Show c.64+484_64+485insTAGGAAAATCTTAAGCGTTCTGTTTTCCTGAT TAATCATCAGGG	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	1/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0286 a0001c0001t0006g0286	1	300	0.0033	44	c.149 others(61): Show c.149+4720_149+4721insATATATATATATATATATATATATATAT ATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp2 HG03579.hp2 others(4): Show HG00438.hp1 HG02083.hp2 HG03579.hp2 NA18612.hp2 NA18977.hp1 NA19005.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0129	7	332	0.0211	44	c.228 others(61): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATATATATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00673.hp2 others(17): Show HG00140.hp1 HG00323.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp2 HG01993.hp1 HG02486.hp2 HG03098.hp1 HG03540.hp2 HG03927.hp1 NA19055.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0107 a0001c0001t0001g0112 others(16): Show a0001c0001t0001g0028 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0261 a0001c0001t0001g0266	20	332	0.0602	44	c.228 others(61): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	332	0.0030	44	c.228 others(61): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATATGTATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	332	0.0030	44	c.228 others(61): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT GTATGTATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC3_chr11_47413775_47431439	47430346	C C	CTGGCTAA others(37): Show CTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	44	c.-40 others(55): Show c.-4068_-4067insACATGGTGAAACCCCATCTCTACTAAAAATATAA AAATTAGCCA	PSMC3	ENSG00000165916.9	transcript	ENST00000298852.8	protein_coding		3908		chr11	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(37): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02622.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0155 a0001c0001t0002g0157	2	268	0.0075	44	c.571 others(61): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231089594	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	364	0.0028	44	c.188 others(63): Show c.1883+2433_1883+2434insATATATATATATATATATATATATAT ATATATATATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD6_chr3_64005551_64028494	64011390	C C	CTCTAACA others(37): Show CTCTAACATATCTTAGTCTAAACAAGTGGAAGGGAAGGGGAGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02630.hp1 HG02630.hp2 others(4): Show HG01070.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02922.hp2 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0064 a0001c0001t0002g0065 others(2): Show a0001c0001t0002g0024 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069	7	426	0.0164	44	c.996 others(59): Show c.996-479_996-436dupTTTCTCCCCTTCCCTTCCACTTGTTTAGAC TAAGATATGTTAGA	PSMD6	ENSG00000163636.11	transcript	ENST00000295901.9	protein_coding	6/7			chr3	TogoVar
PSME4_chr2_53859069_53975993	53940919	T T	TATATATA others(37): Show TATATATAATACATATTTAAATATATATATATAATACATATTTAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01261.hp1 others(2): Show HG01106.hp2 HG01192.hp2 HG01261.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1	a0002 a0017 a0002 a0017	a0002c0003 a0017c0031 a0002c0003 a0017c0031	a0002c0003t0002 a0017c0031t0002 a0002c0003t0002 a0017c0031t0002	a0002c0003t0002g0020 a0002c0003t0002g0077 a0002c0003t0002g0078 others(2): Show a0002c0003t0002g0020 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0108 a0017c0031t0002g0021	5	384	0.0130	44	c.501 others(59): Show c.501-920_501-919insTTAAATATGTATTATATATATATATTTAAA TATGTATTATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMG4_chr6_3253947_3273049	3260275	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	412	0.0024	44	c.174 others(61): Show c.174+1080_174+1081insATATATATATATATATATATATATATAT ATATATATATATATAT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTGES3L_chr17_42963103_42985080	42967496	A A	ATATATAA others(37): Show ATATATAAAATTAATATATAATATATATATTTTATATATAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02145.hp1 HG03669.hp2 others(1): Show HG02015.hp2 HG02145.hp1 HG03669.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0063 a0001c0001t0002g0072 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0083	4	336	0.0119	44	c.16 others(55): Show c.1651_*1652insAATTTTATATATAAAATATATATATTATATATTA ATTTTATATA	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		606		chr17	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	420	0.0024	44	c.349 others(59): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	296	0.0034	44	c.-2+ others(61): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	296	0.0034	44	c.-2+ others(61): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625468	G G	GCTCTCTC others(37): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	310	0.0032	44	c.102 others(63): Show c.1026-1234_1026-1233insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(37): Show GCTCGCGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	310	0.0032	44	c.102 others(63): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 NA18747.hp1 others(2): Show HG02280.hp1 HG03453.hp1 NA18747.hp1 NA18963.hp1 NA18995.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0072 a0001c0001t0168 others(1): Show a0001c0001t0002 a0001c0001t0072 a0001c0001t0168 a0004c0004t0075	a0001c0001t0002g0132 a0001c0001t0002g0173 a0001c0001t0072g0113 others(2): Show a0001c0001t0002g0132 a0001c0001t0002g0173 a0001c0001t0072g0113 a0001c0001t0168g0250 a0004c0004t0075g0082	5	272	0.0184	44	c.581 others(59): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02630.hp1 others(1): Show HG01109.hp1 HG02280.hp2 HG02630.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0001c0001t0068 a0002c0003t0147 others(1): Show a0001c0001t0008 a0001c0001t0068 a0002c0003t0147 a0002c0003t0170	a0001c0001t0008g0002 a0001c0001t0068g0151 a0002c0003t0147g0197 others(1): Show a0001c0001t0008g0002 a0001c0001t0068g0151 a0002c0003t0147g0197 a0002c0003t0170g0247	4	272	0.0147	44	c.581 others(59): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0149 a0001c0025t0149	a0001c0025t0149g0236 a0001c0025t0149g0236	1	272	0.0037	44	c.581 others(59): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402667	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0112 a0001c0001t0100g0112	1	272	0.0037	44	c.581 others(59): Show c.581+215_581+216insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00741.hp1 others(3): Show HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01099.hp1 HG01257.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0130 a0001c0001t0138 others(3): Show a0001c0001t0005 a0001c0001t0130 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0156	a0001c0001t0005g0168 a0001c0001t0130g0218 a0001c0001t0138g0228 others(3): Show a0001c0001t0005g0168 a0001c0001t0130g0218 a0001c0001t0138g0228 a0001c0001t0139g0214 a0001c0001t0140g0202 a0001c0001t0156g0221	6	272	0.0221	44	c.581 others(59): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04184.hp2 NA19043.hp1 others(1): Show HG02970.hp1 HG04184.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0096 a0001c0002t0151 a0002c0003t0183 others(1): Show a0001c0001t0096 a0001c0002t0151 a0002c0003t0183 a0002c0003t0186	a0001c0001t0096g0050 a0001c0002t0151g0239 a0002c0003t0183g0264 others(1): Show a0001c0001t0096g0050 a0001c0002t0151g0239 a0002c0003t0183g0264 a0002c0003t0186g0260	4	272	0.0147	44	c.581 others(59): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402671	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0030 a0001c0001t0043g0029 a0001c0001t0002g0030 a0001c0001t0043g0029	2	272	0.0074	44	c.581 others(59): Show c.581+211_581+212insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402675	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0140 a0001c0002t0082g0140	1	272	0.0037	44	c.581 others(59): Show c.581+207_581+208insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(37): Show TTTTCTTTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02155.hp2 NA18974.hp1 others(1): Show HG00609.hp1 HG02155.hp2 NA18974.hp1 NA18989.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0012 a0002c0003t0003g0012	4	380	0.0105	44	c.414 others(61): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(37): Show CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0093 a0002c0003t0003g0093	1	380	0.0026	44	c.414 others(61): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361516	T T	TTCTCTTT others(37): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18988.hp2 NA19083.hp1 HG02040.hp2 NA18988.hp2 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0037 a0002c0003t0003g0089 a0002c0003t0003g0037 a0002c0003t0003g0089	3	380	0.0079	44	c.414 others(61): Show c.414+1873_414+1874insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN23_chr3_47376021_47418435	47417894	G G	GGTGAGAG others(37): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(100): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0015 a0016	a0001c0001 a0001c0006 a0001c0034 others(8): Show a0001c0001 a0001c0006 a0001c0034 a0002c0003 a0005c0007 a0005c0010 a0005c0029 a0008c0038 a0008c0039 a0015c0035 a0016c0037	a0001c0001t0001 a0001c0006t0001 a0001c0034t0001 others(8): Show a0001c0001t0001 a0001c0006t0001 a0001c0034t0001 a0002c0003t0001 a0005c0007t0001 a0005c0010t0001 a0005c0029t0001 a0008c0038t0001 a0008c0039t0001 a0015c0035t0001 a0016c0037t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0006t0001g0009 a0001c0034t0001g0038 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0013 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0003t0001g0022 a0002c0003t0001g0040 a0002c0003t0001g0042 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0058 a0002c0003t0001g0060 a0002c0003t0001g0071 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0081 a0002c0003t0001g0086 a0002c0003t0001g0094 a0002c0003t0001g0100 a0002c0003t0001g0118 a0002c0003t0001g0120 a0002c0003t0001g0219 a0002c0003t0001g0240 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0082 a0005c0007t0001g0117 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0012 a0005c0010t0001g0041 a0005c0010t0001g0053 a0005c0010t0001g0079 a0005c0010t0001g0116 a0005c0029t0001g0021 a0008c0038t0001g0092 a0008c0039t0001g0080 a0015c0035t0001g0002 a0016c0037t0001g0039	103	332	0.3102	44	c.47 others(55): Show c.4709_*4710insGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGG CGGGGGAGAA	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding		4460		chr3	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	370	0.0027	44	c.859 others(61): Show c.859-5436_859-5435insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	370	0.0027	44	c.859 others(61): Show c.859-5436_859-5435insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	326	0.0031	44	c.64- others(61): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8353858	G G	GTATATGT others(37): Show GTATATGTGTATATATGAATATATGTGTATATGTGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0018 a0001c0001t0013 a0001c0004t0018	a0001c0001t0013g0022 a0001c0004t0018g0015 a0001c0001t0013g0022 a0001c0004t0018g0015	2	34	0.0588	44	c.466 others(65): Show c.4662-11881_4662-11880insTACATATATACACATATACACATA TATTCATATATACACATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	39/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10031647	T T	TATATATA others(37): Show TATATATATATATACATATATATATATACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0016 a0001c0010t0017g0016	1	34	0.0294	44	c.-47 others(63): Show c.-472+2070_-472+2071insGTGTGTGTGTGTGTATGTATATATAT ATATGTATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10031647	T T	TATATATA others(37): Show TATATATATATATATACATATATATATATACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0027	1	34	0.0294	44	c.-47 others(63): Show c.-472+2070_-472+2071insGTGTGTGTGTGTATGTATATATATAT ATGTATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10031647	T T	TATATATA others(37): Show TATATATATATATATATATATATATACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0008	1	34	0.0294	44	c.-47 others(63): Show c.-472+2070_-472+2071insGTGTGTGTGTGTGTGTATGTATATAT ATATATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(37): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	94	0.0106	44	c.85+ others(61): Show c.85+58680_85+58681insATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61738296	A A	ATGTGTAT others(37): Show ATGTGTATATATATATGTATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	94	0.0106	44	c.86- others(61): Show c.86-10581_86-10580insGTGTATATATATATGTATATATATATGT GTATATATATATATGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0070	1	94	0.0106	44	c.376 others(59): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7819359	G G	GGAAGAAG others(37): Show GGAAGAAGATAGAAGCGGCTGGATGTTGAGGGGAGCACACTGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00673.hp2 others(31): Show HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp2 NA18612.hp1 NA18959.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0003c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0006t0001 a0001c0006t0002 a0001c0012t0002 a0001c0013t0002 a0001c0017t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0003c0015t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0002t0001g0002 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0065 a0001c0002t0002g0013 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0003t0001g0005 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0002g0003 a0001c0003t0002g0011 a0001c0003t0003g0071 a0001c0004t0001g0016 a0001c0004t0001g0049 a0001c0004t0002g0023 a0001c0005t0003g0074 a0001c0006t0001g0048 a0001c0006t0002g0030 a0001c0012t0002g0035 a0001c0013t0002g0034 a0001c0017t0001g0060 a0001c0020t0001g0061 a0001c0021t0001g0062 a0001c0022t0001g0017 a0003c0015t0002g0039	34	80	0.4250	44	c.196 others(63): Show c.196+45094_196+45137dupAGATAGAAGCGGCTGGATGTTGAGGG GAGCACACTGGCAGAAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar

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