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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OCLN_chr5_69487790_69563104	69515176	G G	GGACGGGG others(296): Show GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTAACCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGCCCCTCAC CTCCCAGACAGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCTACCTCCC TCCCAGACAGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCTACCTCCCT CCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03225.hp2 HG02258.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0268 a0001c0001t0015g0013 a0001c0001t0015g0268	3	290	0.0103	303	c.891 others(320): Show c.891+1324_891+1325insAGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCTACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTAACCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCTTCCCGGATGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGGGCCCCTCACCTCCCAGACAGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCTACCTCCCTCCCAGAC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
PACS2_chr14_105309748_105403147	105349973	G G	GAGAACTT others(296): Show GAGAACTTCCAGGAGCGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGG AGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCG GGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGC TAATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGAC CCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0015 a0001c0006t0010g0015	1	210	0.0048	303	c.207 others(320): Show c.207+1402_207+1403insAGGAGCGCGTGGCTAATGCAGGACCCCG AGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CAAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCG GGAGCGCGTGGCTAATAGCAGGACCCCAAGAACTTCCGGGAGCGCGTGGC TAATAGCAGGACCCCAAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(296): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTCTAGGCTGGGCACA GCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACCCT GACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGT AATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGGGA AGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(149): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19074.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0007 others(2): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0003c0003t0001 a0005c0005t0001	a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 others(136): Show a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0007t0001g0226 a0003c0003t0001g0225 a0003c0003t0001g0229 a0003c0003t0001g0230 a0005c0005t0001g0019	152	358	0.4246	303	c.126 others(320): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGG CACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(296): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTCTAGGCTGGGCACA GCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACCCT GACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGT AATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCGGGGA AGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18969.hp1 NA18960.hp2 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0028 a0002c0002t0001g0029	2	358	0.0056	303	c.126 others(320): Show c.126-2151_126-2150insCACTTCCCCGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGG CACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(296): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTCTAGGCTGGGCACA GCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGAT CACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATTGGGAAACCCT GACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGT AATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGGGA AGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	358	0.0028	303	c.126 others(320): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAATGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGG CACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PASK_chr2_241101099_241154472	241116061	C C	CCAGGGCC others(296): Show CCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTC CCCAAGCATCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTAC ACAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTC CCCAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTA CACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCATGGGCCACCGG TCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCAT TACA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0070 a0001c0025t0002g0070	1	376	0.0027	303	c.307 others(320): Show c.3073-649_3073-648insTGTAATGGGATGCTTGGGGACCGGTGGC CCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCATGGTGTAATGGGA TGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCGGTG GCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGG GATGCTTGGGGACCGGTGGCCCCTGTGTAATGGGATGCTTGGGGACCGGT GGCCCCTGGTGTAATGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGG GATGCTTGGGGACCGGGTGGCCCTG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(296): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACACATATAACATGTATTACATATATGTAATACACATA TAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	303	c.70 others(314): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACACATATAACATGTATTACATA TATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721687	A A	ACATATAT others(296): Show ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT ATTACATATATAACATATATGTATTACATATATGTAATACATATATAACA TATATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACACATATAACATGT ATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	303	c.71 others(314): Show c.7125_*7126insCATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATAACATATATGTATTACATATATGTATTAC ATATATAACATATATGTATTACATATATGTATTACATATATAACATATAT GTATTACATATATGTATTACATATATAACATATATGTATTACATATATGT AATACATATATAACATATATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAAT ACACATATAACATGTATGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3207		chr20	TogoVar
PCGF3_chr4_700832_775089	716903	C C	CGAGTGTG others(296): Show CGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTGTAGACACTGTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAGGGTGAGAA CTGGGCGTCTGTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCG TCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGC TGGGACCCTGTAGACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GAAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATA CTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 homoSapiens_chm13v2.hp1 HG01256.hp2 HG01258.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0001 a0001c0003t0005g0222 a0001c0003t0005g0001 a0001c0003t0005g0222	3	366	0.0082	303	c.-19 others(324): Show c.-190+11121_-190+11122insGGCGTCGGTGCTGGGACCCTGTAG ACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGAAGACACTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTGTGAG AACTGGGCGTGGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCGTCT GTGCTGGGACCCTGTAGACACTGAGGGTGAGAACTGGGCGTCGGTGCTGG GACCCTGTAGACACTGAGTGTGAGAACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101312089	A A	ACCCTCAC others(296): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	336	0.0030	303	c.269 others(322): Show c.2699+1286_2699+1287insGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDGFA_chr7_492258_524846	510720	A A	AGGGGAGA others(296): Show AGGGGAGAGGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGGAGGGGAGAGG AGAGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGCTCA CCTTGACGCCTGCGGTGGTGGACGCGGGAGGGACCCTGGCTGCTAGGTAG GGGCGGCCCTTGGGCTCGGGTGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGCAGGGCTCACCTTGACGCTGTGGTGGTGGATGCAGGAGGG ACCCTGGCTGCTTGGTAGGGGCGGCCCCGGGCTTGGGTGGGGAGGGGAGG GGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0275 a0001c0001t0022g0275	1	302	0.0033	303	c.453 others(316): Show c.453+88_453+89insCTCCCCTCCCCTCCCCACCCAAGCCCGGGGCC GCCCCTACCAAGCAGCCAGGGTCCCTCCTGCATCCACCACCACAGCGTCA AGGTGAGCCCTGCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCC CACCCGAGCCCAAGGGCCGCCCCTACCTAGCAGCCAGGGTCCCTCCCGCG TCCACCACCGCAGGCGTCAAGGTGAGCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCTCTCCCCTCCCTCTCCTCTCCCCTCCCCTCCCCTCCTCTCCT CTCCCCTCCCCTCCTCTCCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGGC others(296): Show GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGCTC GCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0184	1	358	0.0028	303	c.143 others(318): Show c.143-300_143-299insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCAGGGGGCTCGCGGGGGGCTGGCGGGC TCGCGGGGGGCTCGCGGGGGGGTTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTGGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(296): Show GGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TGGCGGGGGGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCT CGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0030 a0001c0001t0076g0030	1	358	0.0028	303	c.143 others(318): Show c.143-206_143-205insGGCGGGGGCCTCGCGGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGC TGGCGGGGGGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCG CAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGG GCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCT CGCAGGGGGGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXP_chr22_37653723_37671932	37656829	A A	AAATTTTT others(296): Show AAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0050 a0002c0002t0005g0050	1	418	0.0024	303	c.-19 others(314): Show c.-1954_-1953insAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	PDXP	ENSG00000241360.2	transcript	ENST00000215904.7	protein_coding		1893		chr22	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(296): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0093 a0001c0005t0008g0093	1	228	0.0044	303	c.-38 others(322): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(296): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp2 HG01258.hp2 others(7): Show HG01109.hp2 HG01257.hp2 HG01258.hp2 HG02258.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 others(4): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 a0001c0003t0034 a0001c0003t0035 a0001c0003t0036	a0001c0003t0004g0225 a0001c0003t0006g0135 a0001c0003t0006g0138 others(7): Show a0001c0003t0004g0225 a0001c0003t0006g0135 a0001c0003t0006g0138 a0001c0003t0006g0140 a0001c0003t0010g0133 a0001c0003t0018g0122 a0001c0003t0018g0132 a0001c0003t0034g0221 a0001c0003t0035g0134 a0001c0003t0036g0137	10	228	0.0439	303	c.-38 others(322): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	312	0.0032	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGAAGGGAGGGGAGGGGGAATAGG GGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	312	0.0032	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGAAGAGGGGATGGGAGG GGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	303	c.53 others(314): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGA AGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455736	A A	AAGGAGGG others(296): Show AAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAG AGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGA GGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	303	c.53 others(314): Show c.5389_*5390insAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGAT GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGG GAGGGGAAGAGGGGAGGGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4268		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGG GAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGG GGAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	218	0.0046	303	c.262 others(318): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455736	A A	AAGGAGGG others(296): Show AAGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAG AGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGA GGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0063 a0002c0005t0063	a0002c0005t0063g0095 a0002c0005t0063g0095	1	218	0.0046	303	c.262 others(318): Show c.2620-94_2620-93insCCCCTCCCCTCTTCCCCTCCCATCCCCTCT TCCCCCTTCCCTCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTC CCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCTCCCCTCCCT TCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCCTCCCTT CCCCTCTTCCCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCC CCTATTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCC TCCCCTCTTCCCCCTCCCCTCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(296): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGT TCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGCTCACTGCAAGC TCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0085 a0001c0010t0006g0085	1	106	0.0094	303	c.100 others(322): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCACGATCTCCGCTC ACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEC_chr8_143910153_143944597	143928395	A A	AGCGGCGG others(296): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCATGTGCT GGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGA AGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp2 others(9): Show HG00735.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01496.hp1 NA18952.hp2 NA18984.hp1 NA18986.hp1 NA19060.hp1	a0002 a0015 a0094 others(1): Show a0002 a0015 a0094 a0099	a0002c0002 a0002c0015 a0002c0058 others(5): Show a0002c0002 a0002c0015 a0002c0058 a0002c0069 a0002c0071 a0015c0016 a0094c0055 a0099c0059	a0002c0002t0002 a0002c0015t0007 a0002c0015t0010 others(6): Show a0002c0002t0002 a0002c0015t0007 a0002c0015t0010 a0002c0058t0001 a0002c0069t0002 a0002c0071t0007 a0015c0016t0002 a0094c0055t0002 a0099c0059t0002	a0002c0002t0002g0014 a0002c0015t0007g0122 a0002c0015t0010g0042 others(7): Show a0002c0002t0002g0014 a0002c0015t0007g0122 a0002c0015t0010g0042 a0002c0058t0001g0082 a0002c0069t0002g0086 a0002c0071t0007g0123 a0015c0016t0002g0056 a0015c0016t0002g0083 a0094c0055t0002g0084 a0099c0059t0002g0085	12	358	0.0335	303	c.326 others(320): Show c.3261-404_3261-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928411	C C	CTGTGCTG others(296): Show CTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG02155.hp2 others(5): Show HG00597.hp1 HG02056.hp2 HG02155.hp2 NA18945.hp1 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA19057.hp1	a0002 a0002	a0002c0005 a0002c0070 a0002c0005 a0002c0070	a0002c0005t0002 a0002c0070t0002 a0002c0005t0002 a0002c0070t0002	a0002c0005t0002g0006 a0002c0005t0002g0051 a0002c0005t0002g0052 others(2): Show a0002c0005t0002g0006 a0002c0005t0002g0051 a0002c0005t0002g0052 a0002c0005t0002g0092 a0002c0070t0002g0093	8	358	0.0224	303	c.326 others(320): Show c.3261-420_3261-419insTGATAGGGCCGCCGCCTCTTCCTGTGTT GCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACA	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0093 a0093	a0093c0049 a0093c0049	a0093c0049t0002 a0093c0049t0002	a0093c0049t0002g0091 a0093c0049t0002g0091	1	358	0.0028	303	c.326 others(320): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTG TCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143944597	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01975.hp2 others(4): Show HG01261.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp2 HG03927.hp1 NA20752.hp2	a0002 a0011 a0091 a0002 a0011 a0091	a0002c0002 a0002c0048 a0002c0062 others(2): Show a0002c0002 a0002c0048 a0002c0062 a0011c0017 a0091c0046	a0002c0002t0002 a0002c0048t0002 a0002c0062t0002 others(2): Show a0002c0002t0002 a0002c0048t0002 a0002c0062t0002 a0011c0017t0002 a0091c0046t0002	a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0089 others(4): Show a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0089 a0002c0048t0002g0048 a0002c0062t0002g0097 a0011c0017t0002g0090 a0091c0046t0002g0088	7	358	0.0196	303	c.326 others(320): Show c.3260+438_3260+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928395	A A	AGCGGCGG others(296): Show AGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTG GACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTG GTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAA GAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGG TGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCATGTGCT GGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGA AGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01106.hp2 others(6): Show HG00735.hp1 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01358.hp2 HG01496.hp1 NA18952.hp2 NA18984.hp1	a0002 a0015 a0024 others(1): Show a0002 a0015 a0024 a0089	a0002c0002 a0002c0019 a0002c0058 others(4): Show a0002c0002 a0002c0019 a0002c0058 a0002c0060 a0015c0010 a0024c0018 a0089c0048	a0002c0002t0002 a0002c0019t0007 a0002c0058t0002 others(4): Show a0002c0002t0002 a0002c0019t0007 a0002c0058t0002 a0002c0060t0007 a0015c0010t0002 a0024c0018t0002 a0089c0048t0002	a0002c0002t0002g0019 a0002c0002t0002g0034 a0002c0019t0007g0035 others(6): Show a0002c0002t0002g0019 a0002c0002t0002g0034 a0002c0019t0007g0035 a0002c0058t0002g0022 a0002c0060t0007g0045 a0015c0010t0002g0048 a0015c0010t0002g0074 a0024c0018t0002g0038 a0089c0048t0002g0024	9	302	0.0298	303	c.321 others(320): Show c.3219-404_3219-403insCTCTTCCTGTGTTGCAAACCACAGGTCC ACCCGCTGTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTC TTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAAC CAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTC CACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCC TCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGA ACCAGCACAGTGATAGGGCCGCCGC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928411	C C	CTGTGCTG others(296): Show CTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCT ATCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG02155.hp2 others(5): Show HG00597.hp1 HG02056.hp2 HG02155.hp2 NA18945.hp1 NA18954.hp2 NA18971.hp2 NA18977.hp1 NA19057.hp1	a0002 a0002	a0002c0005 a0002c0059 a0002c0005 a0002c0059	a0002c0005t0002 a0002c0059t0002 a0002c0005t0002 a0002c0059t0002	a0002c0005t0002g0040 a0002c0005t0002g0041 a0002c0005t0002g0049 others(5): Show a0002c0005t0002g0040 a0002c0005t0002g0041 a0002c0005t0002g0049 a0002c0005t0002g0054 a0002c0005t0002g0055 a0002c0005t0002g0068 a0002c0005t0002g0176 a0002c0059t0002g0032	8	302	0.0265	303	c.321 others(320): Show c.3219-420_3219-419insTGATAGGGCCGCCGCCTCTTCCTGTGTT GCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACA	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCA ACACAGGAAGAGGCGGCGGCCCTATCATGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0085 a0085	a0085c0042 a0085c0042	a0085c0042t0002 a0085c0042t0002	a0085c0042t0002g0175 a0085c0042t0002g0175	1	302	0.0033	303	c.321 others(320): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAT GATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTG TCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928664	C C	CAGCGGGT others(296): Show CAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATC ATGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAA CACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAG ACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTAT CACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGC AACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGT AGAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp2 HG01975.hp2 others(4): Show HG01261.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02293.hp2 HG03927.hp1 NA20752.hp2	a0002 a0009 a0083 a0002 a0009 a0083	a0002c0002 a0002c0041 a0002c0051 others(2): Show a0002c0002 a0002c0041 a0002c0051 a0009c0011 a0083c0039	a0002c0002t0002 a0002c0041t0002 a0002c0051t0002 others(2): Show a0002c0002t0002 a0002c0041t0002 a0002c0051t0002 a0009c0011t0002 a0083c0039t0002	a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0113 others(4): Show a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0113 a0002c0041t0002g0059 a0002c0051t0002g0115 a0009c0011t0002g0028 a0083c0039t0002g0109	7	302	0.0232	303	c.321 others(320): Show c.3218+438_3218+439insATCTACTCCTCACAGAACCAGCACAGTG ATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCTGT CTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCCGCCTCTTCCTGTG TTGCAAACCACAGGTCCACCCGCTGTCTACTCCTCACAGAACCAGCACAG TGATAGGGCCGCCGCCTCTTCCTGTGTTGCAAACCACAGGTCCACCCGCT GTCTACTCCTCACAGAACCAGCACATGATAGGGCCGCCGCCTCTTCCTGT GTTGCAAACCACAGGTCCACCCGCT	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(296): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATATTATATATAATATATTATATAATATATT ATATATAATATATTATATATATTATATTATATATAATATATTATATATAT TATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	286	0.0035	303	c.-50 others(314): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATTATATAATATATTATATATAATA TATATAATATATTATATATAATATATTATATATAATATATTATATATAAT ATAATATATATAATATATTATATATAATATATTATATATAATATATTATA TATAATATAATATATATAAATATATTTTTATATATAATAATTATATTATA TATAATATATTTTTATATAAATATATATTATATATTTTTATATAAATATA TATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137518569	C C	CCACTCCA others(296): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCCGT CACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTG TCCACTCCATCCCCCGTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCGCTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCC GTCACTCACTCCACTCTGTCCACTCCATCCCTCACTCACTCACTCCACTC TGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0054 a0011c0011t0001g0054	1	188	0.0053	303	c.108 others(322): Show c.1084+1347_1084+1348insAGCAGAGTGGAGTGAGTGAGTGAGGG ATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGAGCAGAGTG GAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGG GATGGAGTGGACAGAGTGGAGCGAGTGAGTGGGGGATGGAGTGAGCAGAG TGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGAGCAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAG TGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2122894	C C	CGGCTGTA others(296): Show CGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCATCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGG TCAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03654.hp2 HG02004.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0203 a0001c0001t0001g0107 a0001c0002t0001g0203	2	286	0.0070	303	c.335 others(322): Show c.335-12366_335-12365insCTGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGCTGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124099	G G	GGCTATAG others(296): Show GGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	286	0.0035	303	c.335 others(322): Show c.335-11161_335-11160insTATAGTTGGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGT AGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGG GGTCATGGTGGTAGTTAGGGTCACAGC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124101	C C	CTGTAGTT others(296): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	286	0.0035	303	c.335 others(322): Show c.335-11161_335-11160insTGTAGTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(296): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATA GTTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	286	0.0035	303	c.335 others(322): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGT GGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD1_chr14_29571479_29932847	29575102	T T	TTTGTTTA others(296): Show TTTGTTTATTCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAGGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	156	0.0064	303	c.21 others(314): Show c.2135_*2136insCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAGTGAATAAACAA	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding		1376		chr14	TogoVar
PSMF1_chr20_1113602_1177246	1114459	T T	TCTGTAAG others(296): Show TCTGTAAGATGCCAGCTACAACCAACTGTATGCAAAGCAGTGTTGAACCA AGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACC AACTGTATGCAAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGT CTGCCCTGTAAGATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGA ACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTAC AACCAACTGTATGCAAACCAGTGTCAAGGGGTGGGGGTGACGGAGCTGTC TGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	326	0.0031	303	c.-43 others(314): Show c.-4315_-4314insCTGTAAGATGCCAGCTACAACCAACTGTATGCAA AGCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTGTAAG ATGCCAGCTACAACCAACTGTATGCAAACCAGTGTTGAACCAAGGGGTGG GGGTGACGGAGCTGTCTGCCCTGTAAGATGCCAGCTACAACCAACTGTAT GCAAACCAGTGTTGAACCAAGGGGTGGGGGTGACGGAGCTGTCTGCCCTG TAAGATGCCAGCTACAACCAACTGTATGCAAACCAGTGTCAAGGGGTGGG GGTGACGGAGCTGTCTGCC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding		4142		chr20	TogoVar
RB1_chr13_48298751_48486890	48432363	T T	TTCTGCTT others(296): Show TTCTGCTTCTGATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04228.hp1 HG00099.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	306	0.0065	303	c.169 others(324): Show c.1696-20614_1696-20613insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTCTGCTTCTGATTCTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(296): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGC TGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTT CAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATG TGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTG CCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCG CCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0109 a0001c0002t0005g0109	1	280	0.0036	303	c.67- others(318): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCAA TCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCCT CAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCTA ATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTGG TCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RETN_chr19_7664049_7675455	7671309	C C	CGCAACCT others(296): Show CGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCA CGTAGCTGGGACTACAGGCGCTCGCCACCATACCTGGCTAATTTTTGTAT TTTTAGTAGAGAAGGAGTTTCACCATGTTGGCTAGGTTGGTCTTGAGCTC CTGGCCTCAAGCGATTCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC ATGCATGAGCCACCGCGCCTGGCCTATTTTTTAATTTTTATTTTCGAGAC AAGGTCTTACTCTGGCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCT CACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	458	0.0022	303	c.96 others(312): Show c.960_*961insGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCACGTAGCTGGGACTACAGGCGCTCGCCACCATACCTGG CTAATTTTTGTATTTTTAGTAGAGAAGGAGTTTCACCATGTTGGCTAGGT TGGTCTTGAGCTCCTGGCCTCAAGCGATTCACCCGCCTCAGCCTCCCAAA GTGCTGGGATTACATGCATGAGCCACCGCGCCTGGCCTATTTTTTAATTT TTATTTTCGAGACAAGGTCTTACTCTGGCGCCCAGGCTGGAGTGCAGTGG CACAATCTCGGCTCACT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		855		chr19	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATAATATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATATTATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG04228.hp2 HG02083.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0191 a0002c0002t0001g0192	2	410	0.0049	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATAAAATATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATATAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTATATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATATTTTATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATAATATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAA TATATATATATAAAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATATTTTATATATATATATTATATATATATTTTATATATATATTTT ATATATATATATTATATATATATATTTTATATATATATATTATATATATA TATTTTATATATATATATTATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATAATATATATATAATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATTATATATATATTATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATATTATATATATATATAAAATATATATAAAATAT ATATATAATATATATATAAAATATATATATTATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATAATATATAT ATTTTATATATATATTATATATATATTTTATATATATTTTATATATATAT ATAATATATATATATATTTTATATATATATTATATATATATATTTTATAT ATATATTTTATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(296): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATATAAAATATATATATATAATATATATATATAAAA TATATATATATAATATATATATATAAAATATATATATAAAATATATATAT AATATATATATATATAATATATATAAAATATATATATATAATATATATAT AAAATATATATATATATTATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	410	0.0024	303	c.67- others(316): Show c.67-812_67-811insTTATATATATATATTATATATATATTATATAT ATATTTTATATATATATTATATATATATTTTATATATATTTTATATATAT ATATAATATATATATATATTTTATATATATATTATATATATATATTTTAT ATATATTATATATATATATATTATATATATATTTTATATATATATTTTAT ATATATATATTATATATATATATTTTATATATATATATTATATATATATA TTTTATATATATATATTATATATATATATTTTATATATATATATTATATA TATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar

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Search Results (Total: 10000 hits)