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
MBP_chr18_76973833_77137783	77118010	T T	TGGGATGG others(526): Show TGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGG GATGGGGACAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGG ATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGG ACAGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGGACAG TGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTG GGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	396	0.0025	533	c.-25 others(552): Show c.-25-12725_-25-12724insGCCCCAACCCACTGTCCCCCATCCCG CCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCC CCAACCCACTGTCCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCA ACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAA CCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACTCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAACCCACT GTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACCCACTG TCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACCCACTGT CCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCC CCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCAGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	314	0.0032	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCAGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAATGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	314	0.0032	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAATGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	314	0.0032	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCAACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA18906.hp2 NA19043.hp1 HG01884.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0017 a0001c0011t0023 a0001c0001t0017 a0001c0011t0023	a0001c0001t0017g0056 a0001c0001t0017g0058 a0001c0011t0023g0053 a0001c0001t0017g0056 a0001c0001t0017g0058 a0001c0011t0023g0053	3	314	0.0096	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(297): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.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 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0002c0002 a0003c0004 a0004c0008 a0005c0014 a0006c0009 a0007c0012 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0003t0014 a0001c0003t0015 a0001c0005t0003 a0001c0006t0011 a0001c0007t0001 a0001c0007t0002 a0001c0010t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0008t0002 a0005c0014t0011 a0006c0009t0003 a0007c0012t0001 a0008c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0001t0003g0108 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0048 a0001c0001t0004g0057 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0104 a0001c0001t0006g0007 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0007g0007 a0001c0001t0008g0005 a0001c0001t0009g0026 a0001c0001t0009g0113 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0010g0013 a0001c0001t0010g0036 a0001c0001t0012g0002 a0001c0001t0012g0009 a0001c0001t0013g0001 a0001c0001t0016g0002 a0001c0001t0016g0009 a0001c0001t0018g0002 a0001c0001t0019g0003 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0045 a0001c0001t0024g0005 a0001c0003t0014g0095 a0001c0003t0014g0097 a0001c0003t0015g0096 a0001c0003t0015g0098 a0001c0005t0003g0001 a0001c0006t0011g0024 a0001c0006t0011g0099 a0001c0006t0011g0116 a0001c0007t0001g0004 a0001c0007t0002g0004 a0001c0010t0002g0091 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0064 a0002c0002t0001g0100 a0002c0002t0001g0111 a0002c0002t0003g0001 a0002c0002t0003g0019 a0002c0002t0003g0110 a0002c0002t0003g0112 a0002c0002t0004g0059 a0003c0004t0003g0003 a0003c0004t0003g0022 a0004c0008t0002g0014 a0005c0014t0011g0024 a0006c0009t0003g0001 a0007c0012t0001g0001 a0008c0013t0001g0065	300	314	0.9554	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTCTATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	314	0.0032	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTCTA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MCM4_chr8_47955941_47983160	47981073	C C	CGGCCTCC others(526): Show CGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGGAG TGAAATTATTTCAAAATACAAGTTTAAAAAATTGAATTATAGTGGCATTT TAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTTTTTAATAGCATTTCC TAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCT GAGGTGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAAAAAAAAAGTATTTCC TAACTGATGCATAGTAGAGATGGGGTTGCACTATATTGGCCAGGCTGGTC TTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG03540.hp1 HG01175.hp1 HG01433.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0072 a0001c0001t0001g0001 a0001c0001t0001g0072	3	314	0.0096	533	c.42 others(544): Show c.4295_*4296insGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGC CACCATGCCCGGGAGTGAAATTATTTCAAAATACAAGTTTAAAAAATTGA ATTATAGTGGCATTTTAAGAGTTTCTTAGATTTAGTAAGCAACGGCAGTT TTTAATAGCATTTCCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTATAGTCCCAGCTAATCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTACGTCTCAA AAAAAAAGTATTTCCTAACTGATGCATAGTAGAGATGGGGTTGCACTATA TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCCT	MCM4	ENSG00000104738.19	transcript	ENST00000649973.1	protein_coding		2914		chr8	TogoVar
MINAR1_chr15_79427336_79477304	79438832	G G	GGGTGGAT others(526): Show GGGTGGATAGTGAGTGTGTGGGTGTGGGTGGGGTGGGTAGTGAGTGTGTG GGTGTGGGTGGGGTGGATAGTGGGTGTGTGTGGGTGGGGTAGGTAGTGTG TGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGT GTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGGGTGGGGTGGGTAGTGAG TGTGTGGGGTGTGGGTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTA GTAAGTGTGTGGGGTGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTG AGTGTGGGGTGTGGGTGTGTGTAGGTAGTGTGTGGGGTGTGGGTGGGGTG GGTAGTAAGTGTGTGGGGTGTGGGGGTGGGTAGTGAGTGTGTGGGGTGTG GGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGT GTGGGTGGGGTGGGCAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGGGTG GGTGTGGGTGGGGTGGGCAGTGAGTGTGTGGGGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0244 a0001c0004t0001g0244	1	390	0.0026	533	c.-51 others(550): Show c.-51+6292_-51+6293insGGTGGATAGTGAGTGTGTGGGTGTGGGT GGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGATAGTGGGTGTGT GTGGGTGGGGTAGGTAGTGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGG TGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGTGT GTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGTGTGTGTAGGTTGT GGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGTGGGTGGT GTGTGGGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGTGTGTAGGTAGT GTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGGTGG GTAGTGAGTGTGTGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGG GTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGTGGG GTGTGGGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGT GGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432834	A A	AGAGAGAG others(526): Show AGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0236 a0001c0002t0003g0236	1	250	0.0040	533	c.225 others(550): Show c.225-2177_225-2176insAAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAG AGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(526): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTATATATATATAAA TATATAATTTATATATAAGTATATATAAATATATATATTTATATATAAGT ATATATAAATATATATATTTATATATAAGTATATATAAATATATATATTT AAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAA ATATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTAT ATATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATAT ATATAAATATATATTTAAATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19060.hp1 NA18988.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0054 a0001c0001t0003g0058	2	326	0.0061	533	c.358 others(550): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATATTTATATATAAGTATATATATATATTTATATATAAGTATATAT ATATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGT ATATATATATTTATATATAAGTATATATAAATATATATATTTATATATAA GTATATATATATAAATATATAATTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATAAA TATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(526): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATG GTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	384	0.0026	533	c.160 others(550): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCAC CACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667550	G G	GCCTTACC others(526): Show GCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCACGCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	378	0.0027	533	c.148 others(552): Show c.1480-2801_1480-2800insGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGTGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTG GGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(526): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCC GCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0252 a0012c0019t0001g0252	1	378	0.0027	533	c.147 others(552): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTA GGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NDUFA3_chr19_54097855_54112568	54109835	C C	CTCCACCC others(526): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	439	0.0023	533	c.29 others(544): Show c.2933_*2934insTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGC CCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACC CGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCCTTCCACCCGGCCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCC ACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGC GCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2268		chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(526): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGT ATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTAT ACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATAC ACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0201 a0001c0003t0005g0201	1	362	0.0028	533	c.-75 others(552): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCA GTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCT GTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(526): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	356	0.0028	533	c.91+ others(546): Show c.91+432_91+433insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGG G	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NMT2_chr10_15100770_15173693	15149442	C C	CCACCATC others(526): Show CCACCATCACATCATCACCACCATCATCACCATTATCATCACTGTCATCA CCACTACCATCGCCACTACCATCGCCATCACCATCACTGCCACCATCATT ATCACCATCATCACCACCACCATCACTACCCCATCATCGTCACCATCACC ATAATCACCACCACCACCACTGCCATCACCACCATCACCATTATCATCAC CATCACTACCCCATCATAGTCACCATCACCATAATCACCACCACCACTGC CATCACCACCATCACCATCATCATCACCATCATTATCACCACCATCATCA CATCACCACCATCATCACCACCATCATCATCATCACCACCATCACCATCA TCATCACCACCATCATCACCATCATTATCACCACCATGATCACCATGATC ACCACCATCATCACCATCATCATCACCATCATCACCACCATCATCATCAC CATCATCATCACCATCATCACCATCATCATCACCACCATTACCATCATCA TCACCACCATCATCATCACCATCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00639.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0168 a0001c0001t0009g0003 a0001c0001t0009g0168	2	276	0.0073	533	c.111 others(550): Show c.111-7886_111-7885insATGGTGGTGATGATGGTGATGATGATGG TGGTGATGATGATGGTAATGGTGGTGATGATGATGGTGATGATGGTGATG ATGATGGTGATGATGATGGTGGTGATGATGGTGATGATGATGGTGATGAT GGTGGTGATCATGGTGATCATGGTGGTGATAATGATGGTGATGATGGTGG TGATGATGATGGTGATGGTGGTGATGATGATGATGGTGGTGATGATGGTG GTGATGTGATGATGGTGGTGATAATGATGGTGATGATGATGGTGATGGTG GTGATGGCAGTGGTGGTGGTGATTATGGTGATGGTGACTATGATGGGGTA GTGATGGTGATGATAATGGTGATGGTGGTGATGGCAGTGGTGGTGGTGGT GATTATGGTGATGGTGACGATGATGGGGTAGTGATGGTGGTGGTGATGAT GGTGATAATGATGGTGGCAGTGATGGTGATGGCGATGGTAGTGGCGATGG TAGTGGTGATGACAGTGATGATAATGGTGATGATGGTGGTGATGATGTGA TGGTG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(526): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTTAAACTA TATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTATATAGTT TTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATA GTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTTTAAACTATGTAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCAT GTAGTTTTAAACTAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAG TTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	244	0.0041	533	c.342 others(552): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTAGTTT AAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTACATA GTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTA AAACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAG TTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATA TAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAGTTT AAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACTATATAAA CTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(526): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAG TTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGT TTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGT AGTTTTAAACTATATAGTTTAAAACTATAGTTTATGTAGTTTTAAACTAG TTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0180 a0002c0004t0001g0180	1	244	0.0041	533	c.342 others(552): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATAGTTTTAAACTATATAGT TTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTATA TAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACT ATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAT AGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTA TATAAACTATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAA CTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATAT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768608	A A	AGGGAGGG others(526): Show AGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGGGA GAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGACAG GGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGAG GGAGAGAGAGGGAGGGAGAAGAGGGAGAGGGAGGGGAGGGGGAGAGGGAG GGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGG GGGAGGAGAGGGGACAGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAG GGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGG GAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGGAGGGAGAGGGATGG GGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAG AGGGAGAGGGGGAAGGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGG AAAGGGAGTGAGAGAGAGAGGGAGAGAGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0138 a0001c0003t0004g0138	1	386	0.0026	533	c.92 others(544): Show c.9220_*9221insCTCTCCCTCTCTCCCTCTCTCTCTCACTCCCTTT CCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCCTTCCCCCTCTCCCT CTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCC CCATCCCTCTCCCTCCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTC CCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCTGTCCCCTCTCCTCCC CCTCCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCC CTCCCTCTCCCCCTCCCCTCCCTCTCCCTCTTCTCCCTCCCTCTCTCTCC CTCTCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCC CTGTCCCTGTCCCTCTCCTCCCCCCTCCCCCTCCCTCTCTGTCCCCCCTC TCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3701		chr12	TogoVar
NTSR1_chr20_62703836_62767771	62755590	C C	CTCCATCA others(526): Show CTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC CCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCATCCCTCATT CCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCAC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCC TCCATCCCTCATTCCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTC CCTCCCTCCCTCCATCCCTGCCTTCATCCATCCTCCCTCCCTCCATCATC CCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCC TCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCC CTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTC CCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATC CCTCATTCCATCCCTCCCTCCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG06807.hp1 HG01884.hp2 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0027 a0001c0001t0021 a0001c0001t0027	a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135 a0001c0001t0021g0079 a0001c0001t0021g0194 a0001c0001t0027g0135	3	316	0.0095	533	c.916 others(548): Show c.916+764_916+765insCCCTTCATCTATCCTCCCTCCCTCCCTCCA TCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCC CTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCC CTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCATCCCTCATT CCATCCCTCCCTCCCTCCCTCCATCCCTGCCTTCATCCATCCTCCCTCCC TCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCC CTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCTC ATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CACTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCT CCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCCTCCATCCATCA TCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATC CCT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(526): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTATAGAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATACTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	439	0.0023	533	c.-16 others(544): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTATAGAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATACTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(526): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATACATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19082.hp2 NA19065.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	439	0.0046	533	c.-16 others(544): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATACATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(526): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATATTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	439	0.0023	533	c.-16 others(544): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATATTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(526): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18975.hp2 HG02602.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0002g0180 a0001c0001t0001g0055 a0001c0001t0002g0180	2	439	0.0046	533	c.-16 others(544): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATACTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(526): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	362	0.0028	533	c.-27 others(550): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGC GGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCCCGCCC others(526): Show CCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACG GACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCC ACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCC ACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACC CCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGAT ACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCACCCACTGCC CAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCC ACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCG CCACCCACTGCCCAGATATGGACCCGGCCCACCCACTGCCCAGATACGGA CCCCCCCCCACCCACTTCCCAGATATGGACCTGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	292	0.0034	533	c.471 others(548): Show c.471+620_471+621insCGCCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCC CAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCA CTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCC ACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGA CCTGGCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATA CGGACCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCC CAGATACGGACCCCCCGCCACCCACTGCCCAGATATGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACCTG GCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCGC others(526): Show GCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCC CGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCC GGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGG CCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGCC AGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	324	0.0031	533	c.32 others(544): Show c.3270_*3271insCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAG GTGGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGG TCAGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTC AGCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3055		chr21	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(526): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	342	0.0029	533	c.20- others(548): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PHKA1_chrX_72573814_72719306	72681480	A A	ATCTGGGA others(526): Show ATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTTGAGGGGGGGGTCAGCCCCCCCGCCCAGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp2 HG02055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0144 a0001c0001t0001g0145	2	237	0.0084	533	c.537 others(550): Show c.537+3017_537+3018insCGGGGCGGCTGGCCGGGCAGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC AGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCTCAACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCAGA	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(526): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGATGGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 HG02109.hp2 HG03471.hp2	a0008 a0008	a0008c0024 a0008c0079 a0008c0024 a0008c0079	a0008c0024t0021 a0008c0079t0068 a0008c0024t0021 a0008c0079t0068	a0008c0024t0021g0175 a0008c0079t0068g0173 a0008c0024t0021g0175 a0008c0079t0068g0173	2	210	0.0095	533	c.45+ others(544): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGG GGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGATGGGGTGG GGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(526): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGG CGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGG GTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0058 a0006c0068t0058	a0006c0068t0058g0194 a0006c0068t0058g0194	1	210	0.0048	533	c.45+ others(544): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAG GGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCG CCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGCGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGGTAGGGGTGGGGT GGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAMACL_chr6_166578009_166591678	166581968	C C	CCCACTCG others(526): Show CCCACTCGGCAGGTGGGCTGGGCAGGAGAGCACGGGGAGAGGGCGGGATG GGGTGGAATGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGA GGGTGAGATGGGGTGGGACGCCCACTCGGCAGGTGGGCTGGGCAGGAGGG CACAGGGAGAGGTGAGATGGGTTGGGACGCACACTGGGCAGGTGGGCTGG GCAGGAGGGCACAGGGAGAGCTGAGATGGGGTGGGACGTCCACTGGGCAG GTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGCCC ACTGGGCAGGTGGGCTGGGCAGGAGGGCCCAGGGAGAGGTGAGATGGGGT GGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAGGGAGAAGTG AGATGGGGTGGGACGCCCACTGGGCAGGTGGGCTGGGCAGGAGGGCACAG GGAGAGGTGAGATGGGGTGGGACGTCCACTGGGCAGGTGGGCTGGGCAGG AGGGCCCAGGGAGAGGTGAGATGGGGTGGGACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG04199.hp2 HG03654.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0000 a0001c0001t0013g0000 a0001c0001t0001g0000 a0001c0001t0013g0000	2	442	0.0045	533	c.41 others(544): Show c.4152_*4153insACGTCCCACCCCATCTCACCTCTCCCTGGGCCCT CCTGCCCAGCCCACCTGCCCAGTGGACGTCCCACCCCATCTCACCTCTCC CTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCCACCCCATCT CACTTCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCGTCCC ACCCCATCTCACCTCTCCCTGGGCCCTCCTGCCCAGCCCACCTGCCCAGT GGGCGTCCCACCCCATCTCACCTCTCCCTGGGCCCTCCTGCCCAGCCCAC CTGCCCAGTGGACGTCCCACCCCATCTCAGCTCTCCCTGTGCCCTCCTGC CCAGCCCACCTGCCCAGTGTGCGTCCCAACCCATCTCACCTCTCCCTGTG CCCTCCTGCCCAGCCCACCTGCCGAGTGGGCGTCCCACCCCATCTCACCC TCTCCCTGTGCCCTCCTGCCCAGCCCACCTGCCCAGTGGGCATTCCACCC CATCCCGCCCTCTCCCCGTGCTCTCCTGCCCAGCCCACCTGCCGAGTGG	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding		1040		chr6	TogoVar
RNF213_chr17_80255852_80403794	80274707	G G	GGGGTGAG others(526): Show GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTG AGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGG GGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGT GGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGTGGGGT GAGTGGGGTGTCTGTGGGGGGTGAAGTGGGGTGAGTTGTGGGGGGTGAGT GGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGT CTGTGGGGGGTGTGGGTGAGTGTGTGGGGTGAGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0020 a0011c0037t0020	a0011c0037t0020g0282 a0011c0037t0020g0282	1	292	0.0034	533	c.261 others(550): Show c.261+1330_261+1331insAGTGTGGGGGGTGAGTGGGGTGAGTGGG GTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTG GGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAT GGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGT GAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGG TGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGG GGTGTCTGTGGGGGGTGAAGTGGGGTGAGTTGTGGGGGGTGAGTGGGGTG AGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGTGGGTGAGTGTGTGGGGTGAGTGGGTGAGTGTGGGGGGTGAGTG GGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
ROCK1_chr18_20941906_21116813	21026920	T T	TTTAGATT others(526): Show TTTAGATTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTAATT ATTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAA CGTGTCATCTAGCATTAGATATATCTCCCAATGCTATCCCTCCCCACTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTGCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGTGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	212	0.0047	533	c.121 others(552): Show c.1211+1855_1211+1856insTGCTGCTATAAAGACACATGCACACG TATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGCAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTCGGGGGAGTGGGGAGGGATAGCATTGGGAGATATATCTAATGCTAG ATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATA ATAATAATAATTAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGA AATCTAA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	10/32			chr18	TogoVar
RSPH1_chr21_42467486_42501224	42477183	A A	ACCCCTCC others(526): Show ACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA CTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACC CTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCC CTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCC ACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGG GGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC ACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCT GACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCC ACCCCACAGCCCGGGGATGCCCCACACCCTCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	408	0.0025	533	c.727 others(548): Show c.727+107_727+108insGCAGAGGGTGTGGGGCATCCCCGGGCTGTG GGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGG GGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGG CTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGT GGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG GGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(526): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATTATATATTATATATAATATATAATATATATAATATAATATATA TAATATAATATATATATTATATATAATATATATTATATATTATATATAAT ATATATTTATATATAATATATAAATATATATTATATATAATATATAATAT ATAATTATATATTATATATTATATATAATATATATTTATATATAATATAT AAATATAATTATATATTATATATAATATATAAATATATATTATATATTAT ATATAATATATATTTATATATTATATATTATATATAATATATATTTATAT ATTATATATAATATATAAATATATATTATATATATTTAATATATATTTTA TATATAAATTATATATTATATATATTTAATATATATTTTATATATAAATT ATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0150 a0001c0002t0009g0150	1	188	0.0053	533	c.193 others(552): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAA TTTATATATAAAATATATATTAAATATATATAATATATATTTATATATTA TATATAATATATAAATATATATTATATATAATATATAATATATAAATATA TATTATATATAATATATAATATATATTTATATATTATATATAATATATAA TTATATTTATATATTATATATAAATATATATTATATATAATATATAATAT ATAATTATATATTATATATTATATATAATATATATTTATATATTATATAT AAATATATATTATATATAATATATAATATATATTATATATAATATATATA TTATATTATATATATTATATTATATATATTATATATTATATATAATATAT AATATATAATATATATTATATATTATATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATTATATATATT ATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(526): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAA CGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACA TGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCG ATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCG CACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGC ACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGG CCCCGATTTCTCCGCATCCTCACCCCAACAGCAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02040.hp1 HG02040.hp2 others(5): Show HG01358.hp1 HG02040.hp1 HG02040.hp2 HG02523.hp2 NA18747.hp1 NA18974.hp2 NA18990.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0159 a0001c0001t0001g0242 a0001c0001t0001g0326 others(5): Show a0001c0001t0001g0159 a0001c0001t0001g0242 a0001c0001t0001g0326 a0001c0001t0002g0065 a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0131 a0001c0003t0003g0137	8	356	0.0225	533	c.127 others(552): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGC GGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATC GGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCAT GTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGT TGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAG GGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAG AAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGG CCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(526): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0057 a0002c0011t0003g0057	1	256	0.0039	533	c.165 others(550): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(526): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02976.hp1 others(2): Show HG02258.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 others(2): Show a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266	5	360	0.0139	533	c.173 others(552): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGG TGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(526): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02132.hp2 others(17): Show HG01891.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG06807.hp1 NA18943.hp1 NA18957.hp2 NA19068.hp2 NA19080.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0007 a0009c0015 a0001c0001 a0006c0007 a0009c0015	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0009c0015t0001	a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0204 others(17): Show a0001c0001t0001g0139 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0296 a0001c0001t0003g0212 a0006c0007t0001g0195 a0009c0015t0001g0183	20	360	0.0556	533	c.173 others(552): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGG TGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(526): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCA CCCCATCTGGGAAGTGAGGAGCTTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	360	0.0028	533	c.173 others(552): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGC TGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCT GGGAAGTGAGGAGCTTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGG TGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGGC others(526): Show GGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCT GGGTGGGGGGCCTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	373	0.0027	533	c.115 others(550): Show c.1156+291_1156+292insACCCAGTGCCTTCTCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTT CCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCC CCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGC CCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(526): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGAAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAAGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGG AGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGA GGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAG ATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGG AGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	251	0.0040	533	c.34 others(542): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUN1_chr7_827476_879934	868569	T T	TGGGGGGC others(526): Show TGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGGCAGT GCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTG TGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCG GATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCA GTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCC TGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGT CGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGG CAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTC CCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTG GTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGG GGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0329 a0003c0003t0001g0329	1	418	0.0024	533	c.198 others(550): Show c.1981-736_1981-735insGCAGTGCTGGTTCTCTGTGGTGTTGGTC GGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGC AGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCC CTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGG TCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGG GCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTT CTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTT GGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGG GGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGG TTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868569	T T	TGGGGGGC others(526): Show TGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGGCAGT GCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTG TGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCG GATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCA GTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCC TGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGT CGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGG CAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTC CCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTG GTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGG GGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0318 a0003c0003t0001g0318	1	418	0.0024	533	c.198 others(550): Show c.1981-736_1981-735insGCAGTGCTGGTTCTCTGTGGTGTTGGTC GGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGC AGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCC CTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGG TCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGG GCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTT CTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTT GGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGG GGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGG TTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(526): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGA CGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGAAGGTAATGGTG GTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTAATGATGGTG GTGATAGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGTTAAT GATGGTGGTGATAGTGATGACGGTGATGGTGGCGGTGGCGGTGATGGCGA TGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGATG ATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATGAT AATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGG TGTTGATGGTGATCTTGGTAATGGTGATGATGGTGGTGGTGATGGCAATG GTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	258	0.0039	533	c.113 others(552): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGATGGTGGTGACGATGGTGATGGTGAGGATGATGGTGGTG GTGATGGTGAAGGTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCG ATGGTGATGGTAATGATGGTGGTGATAGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGTTAATGATGGTGGTGATAGTGATGACGGTGATGG TGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGGTG ACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTGGT GATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGTGA TGGTGATGATGGTGGTGATGGTGTTGATGGTGATCTTGGTAATGGTGATG ATGGTGGTGGTGATGGCAATGGTGATGATGGTGGTGATGGTGTTGATGGT GATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TFPT_chr19_54102020_54120657	54109835	C C	CTCCACCC others(526): Show CTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGT CCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAG CCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCC GGCCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTC AGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCA CAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCA CCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	429	0.0023	533	c.353 others(548): Show c.353+215_353+216insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGG GACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGG GGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAA GGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGC TGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGG AGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGG AGAGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGC GCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAG GGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGT GGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(526): Show TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTTCTTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCGCTCTCC TCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCGCTCCTCTCTCTCTC CTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCATCCTCTCTCTC TCCTCTCTCTCCTCTCTCTCCTCTCTCTCATCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCATCCTCTCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	54	0.0185	533	c.803 others(550): Show c.803-1579_803-1578insCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCC TCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTTCTTCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCGCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCG CTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCATCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCATCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCATCCTCTCTCCTCTCTCTCTCCT CTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)