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
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(542): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0250 a0001c0005t0001g0250	1	288	0.0035	549	c.190 others(568): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM120B_chr6_170301758_170412067	170377075	A A	AGGCTCAC others(542): Show AGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCC CGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAA TCCCAGACGCCCGGGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACA CGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGG TGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTC ACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAG AACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAG ACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTC CCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGT GCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTG CTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0110 a0002c0003t0002g0110	1	289	0.0035	549	c.228 others(570): Show c.2284-11174_2284-11173insACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FRK_chr6_115926149_116065891	116047604	T T	TACAAGCA others(542): Show TACAAGCATGTGACACCATGCCTGGCTAATTTTGTAGCTAATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTC AAGTGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATCCACTGCCTCT TTTGCTTTTGTTTTCTCTCAGCTTTGATTATCAAGATGGACCTAAGTTCC ACATGTGAAGCCCTCCCATACAATTCTTTTCCTATGGTTCAACCCAGCCT AAATGTGTCACTGAAGAGTTCCAGACAGAGCAGGCAGTTGCCCTTTATAA TTCTCTTTTCTACAGGCTATCACCCATCATTACTTTATGAAACTGCTTTT AGTGTCACCAAATAATTATCCAGCAAACCTAATGGTCTTTCCCTCTTCCT CAGTACCTTGACCTTTCTTTAGCATTTAACTCAAAACCTCTTTATTTACA TTCTATCTCCTTGCTTTGAAAAAGATGCTTTGATTTGCTTCCACTTTGAT GAATTTTTCATCATTGTTTTCTTCAGTGGCCCTTTTTCTTCCCTGTATTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0174 a0002c0002t0019g0174	1	274	0.0037	549	c.344 others(568): Show c.344+12363_344+12364insTAATACAGGGAAGAAAAAGGGCCACT GAAGAAAACAATGATGAAAAATTCATCAAAGTGGAAGCAAATCAAAGCAT CTTTTTCAAAGCAAGGAGATAGAATGTAAATAAAGAGGTTTTGAGTTAAA TGCTAAAGAAAGGTCAAGGTACTGAGGAAGAGGGAAAGACCATTAGGTTT GCTGGATAATTATTTGGTGACACTAAAAGCAGTTTCATAAAGTAATGATG GGTGATAGCCTGTAGAAAAGAGAATTATAAAGGGCAACTGCCTGCTCTGT CTGGAACTCTTCAGTGACACATTTAGGCTGGGTTGAACCATAGGAAAAGA ATTGTATGGGAGGGCTTCACATGTGGAACTTAGGTCCATCTTGATAATCA AAGCTGAGAGAAAACAAAAGCAAAAGAGGCAGTGGATCCCAGCACTTTGG GAGGCTGAGGTGGGTGAATCACTTGAGGTCAGCAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTAGCTACAAAATTAGC CAGGCATGGTGTCACATGCTTGT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	1/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116047604	T T	TACAAGCA others(542): Show TACAAGCATGTGACACCATGCCTGGCTAATTTTGTAGCTAATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTC AAGTGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATCCACTGCCTCT TTTGCTTTTGTTTTCTCTCAGCTTTGATTATCAGGATGGACCTAAGTTCC ACATGTGAAGCCCTCCCATACAATTCTTTTCCTATGGTTCAACCCAGCCT AAATGTGTCACTGAAGAGTTCCAGACAGAGCAGGCAGTTGCCCTTTATAA TTCTCTTTTCTACAGGCTATCACCCATCATTACTTTATGAAACTGCTTTT AGTGTCACCAAATAATTATCCAGCAAACCTAATGGTCTTTCCCTCTTCCT CAGTACCTTGACCTTTCTTTAGCATTTAACTCAAAACCACTTTATTTACA TTCTATCTCCTTGCTTTGAAAAAGATGCTTTGATTTGCTTCCACTTTGAT GAATTTTTCATCATTGTTTTCTTCAGTGGCCCTTTTTCTTCCCTGTATTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00735.hp2 others(18): Show HG00280.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp1 HG01993.hp1 HG02004.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG03492.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0026 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0026 a0001c0001t0069 a0001c0001t0070	a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 others(18): Show a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0260 a0001c0001t0003g0269 a0001c0001t0011g0234 a0001c0001t0011g0237 a0001c0001t0011g0248 a0001c0001t0011g0249 a0001c0001t0026g0245 a0001c0001t0069g0243 a0001c0001t0070g0242	21	274	0.0766	549	c.344 others(568): Show c.344+12363_344+12364insTAATACAGGGAAGAAAAAGGGCCACT GAAGAAAACAATGATGAAAAATTCATCAAAGTGGAAGCAAATCAAAGCAT CTTTTTCAAAGCAAGGAGATAGAATGTAAATAAAGTGGTTTTGAGTTAAA TGCTAAAGAAAGGTCAAGGTACTGAGGAAGAGGGAAAGACCATTAGGTTT GCTGGATAATTATTTGGTGACACTAAAAGCAGTTTCATAAAGTAATGATG GGTGATAGCCTGTAGAAAAGAGAATTATAAAGGGCAACTGCCTGCTCTGT CTGGAACTCTTCAGTGACACATTTAGGCTGGGTTGAACCATAGGAAAAGA ATTGTATGGGAGGGCTTCACATGTGGAACTTAGGTCCATCCTGATAATCA AAGCTGAGAGAAAACAAAAGCAAAAGAGGCAGTGGATCCCAGCACTTTGG GAGGCTGAGGTGGGTGAATCACTTGAGGTCAGCAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTAGCTACAAAATTAGC CAGGCATGGTGTCACATGCTTGT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	1/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116047604	T T	TACAAGCA others(542): Show TACAAGCATGTGACACCATGCCTGGCTAATTTTGTAGCTAATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTC AAGTGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATCCACTGCCTCT TTTGCTTTTGTTTTCTCTCAGCTTTGATTATCAGGATGGACCTAAGTTCC ACATGTGAAGCCCTCCCATACAATTCTTTTCCTATGGTTCAACCCAGCCT AAATGTGTCACTGAAGAGTTCCAGACAGAGCAGGCAGTTGCCCTTTATAA TTCTCTTTTCTACAGGCTATCACCCATCATTACTTTATGAAACTGCTTTT AGTGTCACCAAATAATTATCCAGCAAACCTAATGGTCTTTCCCTCTTCCT CAGTACCTTGACCTTTCTTTAGCATTTAACTCAAAACCTCTTTATTTACA TTCTATCTCCTTGCTTTGAAAAAGATGCTTTGATTTGCTTCCACTTTGAT GAATTTTTCATCATTGTTTTCTTCAGTGGCCCTTTTTCTTCCCTGTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.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 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0009 others(6): Show a0001c0001 a0001c0004 a0001c0009 a0002c0002 a0002c0006 a0003c0003 a0004c0007 a0005c0005 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(73): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0004t0001 a0001c0004t0046 a0001c0009t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0019 a0002c0002t0021 a0002c0002t0030 a0002c0002t0031 a0002c0002t0033 a0002c0002t0036 a0002c0002t0038 a0002c0002t0040 a0002c0002t0041 a0002c0002t0044 a0002c0002t0045 a0002c0002t0053 a0002c0002t0054 a0002c0002t0057 a0002c0006t0012 a0003c0003t0004 a0003c0003t0052 a0004c0007t0015 a0005c0005t0002 a0006c0008t0002	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 others(234): Show a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0002g0142 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0143 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0004g0196 a0001c0001t0006g0002 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0220 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0232 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0008g0001 a0001c0001t0008g0203 a0001c0001t0008g0204 a0001c0001t0008g0205 a0001c0001t0008g0211 a0001c0001t0008g0212 a0001c0001t0008g0213 a0001c0001t0008g0214 a0001c0001t0008g0233 a0001c0001t0009g0140 a0001c0001t0010g0200 a0001c0001t0010g0202 a0001c0001t0010g0209 a0001c0001t0010g0221 a0001c0001t0010g0256 a0001c0001t0011g0264 a0001c0001t0012g0112 a0001c0001t0013g0222 a0001c0001t0013g0227 a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0014g0271 a0001c0001t0015g0231 a0001c0001t0015g0253 a0001c0001t0016g0117 a0001c0001t0016g0131 a0001c0001t0016g0182 a0001c0001t0017g0009 a0001c0001t0017g0010 a0001c0001t0017g0194 a0001c0001t0018g0056 a0001c0001t0018g0115 a0001c0001t0018g0116 a0001c0001t0020g0137 a0001c0001t0020g0138 a0001c0001t0020g0139 a0001c0001t0022g0184 a0001c0001t0022g0185 a0001c0001t0023g0151 a0001c0001t0023g0152 a0001c0001t0024g0006 a0001c0001t0024g0177 a0001c0001t0025g0254 a0001c0001t0025g0268 a0001c0001t0026g0270 a0001c0001t0027g0206 a0001c0001t0027g0210 a0001c0001t0028g0003 a0001c0001t0029g0113 a0001c0001t0034g0198 a0001c0001t0035g0004 a0001c0001t0037g0114 a0001c0001t0039g0180 a0001c0001t0042g0191 a0001c0001t0043g0189 a0001c0001t0047g0186 a0001c0001t0049g0197 a0001c0001t0050g0181 a0001c0001t0051g0103 a0001c0001t0056g0134 a0001c0001t0058g0199 a0001c0001t0059g0255 a0001c0001t0060g0259 a0001c0001t0061g0257 a0001c0001t0062g0218 a0001c0001t0063g0223 a0001c0001t0064g0219 a0001c0001t0065g0258 a0001c0001t0066g0201 a0001c0001t0067g0207 a0001c0001t0068g0208 a0001c0001t0071g0272 a0001c0004t0001g0109 a0001c0004t0001g0118 a0001c0004t0001g0179 a0001c0004t0046g0166 a0001c0009t0012g0120 a0002c0002t0001g0005 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0060 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0127 a0002c0002t0001g0149 a0002c0002t0001g0173 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0129 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0171 a0002c0002t0005g0016 a0002c0002t0005g0017 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0062 a0002c0002t0005g0065 a0002c0002t0005g0066 a0002c0002t0005g0128 a0002c0002t0005g0172 a0002c0002t0007g0153 a0002c0002t0007g0154 a0002c0002t0007g0155 a0002c0002t0007g0156 a0002c0002t0007g0157 a0002c0002t0007g0158 a0002c0002t0007g0159 a0002c0002t0007g0160 a0002c0002t0007g0192 a0002c0002t0007g0193 a0002c0002t0009g0048 a0002c0002t0009g0165 a0002c0002t0019g0061 a0002c0002t0019g0176 a0002c0002t0021g0007 a0002c0002t0021g0008 a0002c0002t0021g0043 a0002c0002t0030g0091 a0002c0002t0031g0092 a0002c0002t0033g0069 a0002c0002t0036g0052 a0002c0002t0038g0073 a0002c0002t0040g0011 a0002c0002t0041g0089 a0002c0002t0044g0021 a0002c0002t0045g0085 a0002c0002t0053g0068 a0002c0002t0054g0023 a0002c0002t0057g0126 a0002c0006t0012g0096 a0002c0006t0012g0097 a0003c0003t0004g0161 a0003c0003t0004g0163 a0003c0003t0004g0164 a0003c0003t0052g0162 a0004c0007t0015g0230 a0004c0007t0015g0267 a0005c0005t0002g0094 a0005c0005t0002g0095 a0006c0008t0002g0055	239	274	0.8723	549	c.344 others(568): Show c.344+12363_344+12364insTAATACAGGGAAGAAAAAGGGCCACT GAAGAAAACAATGATGAAAAATTCATCAAAGTGGAAGCAAATCAAAGCAT CTTTTTCAAAGCAAGGAGATAGAATGTAAATAAAGAGGTTTTGAGTTAAA TGCTAAAGAAAGGTCAAGGTACTGAGGAAGAGGGAAAGACCATTAGGTTT GCTGGATAATTATTTGGTGACACTAAAAGCAGTTTCATAAAGTAATGATG GGTGATAGCCTGTAGAAAAGAGAATTATAAAGGGCAACTGCCTGCTCTGT CTGGAACTCTTCAGTGACACATTTAGGCTGGGTTGAACCATAGGAAAAGA ATTGTATGGGAGGGCTTCACATGTGGAACTTAGGTCCATCCTGATAATCA AAGCTGAGAGAAAACAAAAGCAAAAGAGGCAGTGGATCCCAGCACTTTGG GAGGCTGAGGTGGGTGAATCACTTGAGGTCAGCAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTAGCTACAAAATTAGC CAGGCATGGTGTCACATGCTTGT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	1/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116047604	T T	TACAAGCA others(542): Show TACAAGCATGTGACACCATGCCTGGCTAATTTTGTAGCTAATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTC AAGTGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATCCACTGCCTCT TTTGCTTTTGTTTTCTCTCAGCTTTGATTATCAGGATGGACCTAAGTTCC ACATGTGAAGCCCTCCCATACAATTCTTTTCCTATGGTTCAACCCAGCCT AAATGTGTCACTGAAGAGTTCCAGACAGAGCAGGCAGTTGCCCTTTATAA TTCTCTTTTCTACAGGCTATCACCCATCATTACTTTATGAAACTGCTTTT AGTGTCACCAAATAATTATCCAGCAAACGTAATGGTCTTTCCCTCTTCCT CAGTACCTTGACCTTTCTTTAGCATTTAACTCAAAACCTCTTTATTTACA TTCTATCTCCTTGCTTTGAAAAAGATGCTTTGATTTGCTTCCACTTTGAT GAATTTTTCATCATTGTTTTCTTCAGTGGCCCTTTTTCTTCCCTGTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02074.hp1 others(8): Show HG00438.hp2 HG02040.hp1 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG03831.hp2 NA18968.hp2 NA18993.hp1 NA19007.hp2 NA19009.hp2 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0048 a0002c0002t0055	a0002c0002t0001g0034 a0002c0002t0002g0030 a0002c0002t0002g0036 others(8): Show a0002c0002t0001g0034 a0002c0002t0002g0030 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0175 a0002c0002t0004g0032 a0002c0002t0005g0035 a0002c0002t0009g0098 a0002c0002t0009g0099 a0002c0002t0048g0033 a0002c0002t0055g0100	11	274	0.0402	549	c.344 others(568): Show c.344+12363_344+12364insTAATACAGGGAAGAAAAAGGGCCACT GAAGAAAACAATGATGAAAAATTCATCAAAGTGGAAGCAAATCAAAGCAT CTTTTTCAAAGCAAGGAGATAGAATGTAAATAAAGAGGTTTTGAGTTAAA TGCTAAAGAAAGGTCAAGGTACTGAGGAAGAGGGAAAGACCATTACGTTT GCTGGATAATTATTTGGTGACACTAAAAGCAGTTTCATAAAGTAATGATG GGTGATAGCCTGTAGAAAAGAGAATTATAAAGGGCAACTGCCTGCTCTGT CTGGAACTCTTCAGTGACACATTTAGGCTGGGTTGAACCATAGGAAAAGA ATTGTATGGGAGGGCTTCACATGTGGAACTTAGGTCCATCCTGATAATCA AAGCTGAGAGAAAACAAAAGCAAAAGAGGCAGTGGATCCCAGCACTTTGG GAGGCTGAGGTGGGTGAATCACTTGAGGTCAGCAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTAGCTACAAAATTAGC CAGGCATGGTGTCACATGCTTGT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	1/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116047604	T T	TACAAGCA others(542): Show TACAAGCATGTGACACCATGCCTGGCTAATTTTGTAGCTAATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTC AAGTGATTCACCCACCTCAGCCTCCCAAAGTGCTGGGATCCACTGCCTCT TTTGCTTTTGTTTTCTCTCAGCTTTGATTATCAGGATGGACCTAAGTTCC ACATGTGAAGCCCTCCCATACAATTCTTTTCCTATGGTTCAACCCAGCCT AAATGTGTCACTGAAGAGTTCCAGACAGAGCAGGCAGTTGCCCTTTATAA TTCTCTTTTCTACAGGCTATCACCCATCATTACTTTATGAAACTGCTTTT AGTGTCACCAAATAATTATCCAGCAAACTTAATGGTCTTTCCCTCTTCCT CAGTACCTTGACCTTTCTTTAGCATTTAACTCAAAACCTCTTTATTTACA TTCTATCTCCTTGCTTTGAAAAAGATGCTTTGATTTGCTTCCACTTTGAT GAATTTTTCATCATTGTTTTCTTCAGTGGCCCTTTTTCTTCCCTGTATTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	274	0.0037	549	c.344 others(568): Show c.344+12363_344+12364insTAATACAGGGAAGAAAAAGGGCCACT GAAGAAAACAATGATGAAAAATTCATCAAAGTGGAAGCAAATCAAAGCAT CTTTTTCAAAGCAAGGAGATAGAATGTAAATAAAGAGGTTTTGAGTTAAA TGCTAAAGAAAGGTCAAGGTACTGAGGAAGAGGGAAAGACCATTAAGTTT GCTGGATAATTATTTGGTGACACTAAAAGCAGTTTCATAAAGTAATGATG GGTGATAGCCTGTAGAAAAGAGAATTATAAAGGGCAACTGCCTGCTCTGT CTGGAACTCTTCAGTGACACATTTAGGCTGGGTTGAACCATAGGAAAAGA ATTGTATGGGAGGGCTTCACATGTGGAACTTAGGTCCATCCTGATAATCA AAGCTGAGAGAAAACAAAAGCAAAAGAGGCAGTGGATCCCAGCACTTTGG GAGGCTGAGGTGGGTGAATCACTTGAGGTCAGCAGTTCGAGACCAGCCTG GCCAACATGGTGAAACCCCATCTCTACTAAAAATTAGCTACAAAATTAGC CAGGCATGGTGTCACATGCTTGT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	1/7			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63609479	C C	CTGACCCC others(542): Show CTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACATCCA TTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCCAGAAACATGCC CCTCTGACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCT CCATTTCTAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACA TGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTGACCCCAC ACATCCATTTCTAGAAACATGTCCCTCTGACCCACCTCCATTTCCAGAAA CATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGTCCCTCTGACCCA CACCTCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATTTCTAGA AACATGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACC CCACACATCCATTTCTAGAAACATGTCCCTCTGACTCACCTCCATTTCTA GAAACATGCCACTCTGACCCCACACATCCATTTCTAGAAACATGCCCCTG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0129 a0001c0003t0002g0129	1	330	0.0030	549	c.132 others(566): Show c.132-4640_132-4639insCAGGGGCATGTTTCTAGAAATGGATGTG TGGGGTCAGAGTGGCATGTTTCTAGAAATGGAGGTGAGTCAGAGGGACAT GTTTCTAGAAATGGATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGG AGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGTGGGGTCAGGGG CATGTTTCTAGAAATGGAGGTGTGGGTCAGAGGGACATGTTTCTAGAAAT GGAGGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGG ACATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAAT GGAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGTGGGTCAG AGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAGGGACATGTTTCTAG AAATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGGT CAGAGGGACATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTT CTAGAAATGGAGGTGGGGTCA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(542): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGAGTGTGGGGTACGGGTGTGAGTGTGGGAGGGTGTGGGGTGGG GTGAGAGTGTGGGAGGGTGTGGGATGGGGGTGAGCATGAGTGTGGGAGGG TGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGTGACTGT GGGAGAGTGGGGTGGGGGTGAGTGTGAGTGTGGGAGGGTGTGGGGTGGGG TGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGAGTGTGGA AGGGTGTGGGGTGGGGGTGAGTGTGACTGTGGGAGAGTGTGGGGTGGGGT GAATGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAG GGTGTGGGGTGGGGGTGTGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAAT GTGTGGGGTGGATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGGTGTGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01884.hp2 others(8): Show HG01168.hp1 HG01169.hp2 HG01884.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0002t0004 a0001c0002t0027	a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0017g0194 others(8): Show a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0017g0194 a0001c0001t0017g0200 a0001c0001t0017g0238 a0001c0001t0022g0263 a0001c0001t0022g0312 a0001c0002t0004g0009 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0027g0314	11	330	0.0333	549	c.-10 others(566): Show c.-10-3787_-10-3786insCCACACCACACACCCACAAACCCACGCT CACACACACATCCACCCCACACATTCACACACCCCACCCCACACCCTCCC ACACACACCCCCACCCCACACCCTCCCACACTCACATTCACCCCCACCCC ACACCCTCCCACACTCACATTCACCCCACCCCACACTCTCCCACAGTCAC ACTCACCCCCACCCCACACCCTTCCACACTCACACTCACCCCCACCCCAC ACCCTCCCATGCTCTCACCCCACCCCACCCCACACCCTCCCACACTCACA CTCACCCCCACCCCACTCTCCCACAGTCACACCCCCACCCCACACCCTCC CACACTCACACTCACCCCCACACCCTCCCACACTCATGCTCACCCCCATC CCACACCCTCCCACACTCTCACCCCACCCCACACCCTCCCACACTCACAC CCGTACCCCACACTCTCCCACACTCACACTCACCCCCACCCCACACCCTC CCACACTCACGCTCACCCCCTACCCCACACCCAGACACACACCCACACAC ACCCATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(542): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACCACACATCACACACACCATTCCACCACACA ACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACCAC TCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACACC ACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACTAC CACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATACC ACACCACGCCACACCACTCCACACAACGTGCCACACACCAGTCCACACCA AACCACACACCACACACCACACATCACTCCACACCCCAAACACACCACAC ACCACTCCACACACACCACACACCACTCCACACCAAACCACACCACTCCA CACCAAACCACACGACACCATATACCACACCACACCACACACCACCACTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	314	0.0032	549	c.310 others(564): Show c.310-949_310-948insAAGTGGTGGTGTGTGGTGTGGTGTGGTATA TGGTGTCGTGTGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTG TGTGGTGTGTGTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGT GTGGTGTGTGGTGTGTGGTTTGGTGTGGACTGGTGTGTGGCACGTTGTGT GGAGTGGTGTGGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGT GTGGAGTGGTGTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTG TGGCGTGTGGAGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGG AGTGGTGTGCTGTGTGTGGAGTGGTGTGGCATGGTGTGTGTGGTGTTTTG TGGAGTGATGTGTGGTGTGTTGTGTGGTGGAATGGTGTGTGTGATGTGTG GTGTGTGTGGTGTGTGTGTGTGTGGAGTGGTGTGTGGTGTGTGATGTGTG TGTGGAGTGGTTGTGTGTGGTTTGGTGTGGAGTGTGTGTGTGGTGTGTGG CATGGTGTGGAATGGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(542): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	252	0.0040	549	c.10- others(566): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCT CCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229714	C C	CCCCCACC others(542): Show CCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTCCTCCTCC CCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCACCTCCA TCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCCCCCCTC CCCGTCCCTCCTCCCACCCTCCCCCTCCTCCTCCCCCTCCCCCACCTCCT CCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCCTCCT CTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCC CCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCC CCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCAC TCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	252	0.0040	549	c.10- others(566): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCCTCCTCCCACCCTCCCCCTCCT CCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCT GTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCC CCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTC CCCCCTCCTCCCACTCCTCCT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(542): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTC CCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCT CCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	276	0.0036	549	c.65 others(560): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAGGGGGGGCAGGAGGGCAGGAGGGGAGGAG GGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA AGGGGGCAGGAGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KDM2A_chr11_67114263_67263082	67222627	T T	TCCTCACT others(542): Show TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGAGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GACCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGACTGGCCGGGCGGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACACCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	220	0.0046	549	c.957 others(566): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTG GCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACACCCCCACCTCCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA0232_chr4_6777727_6889164	6879826	C C	CCCCCCTC others(542): Show CCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAC AGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCT TCCCAACACACAGATCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACT GCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGCCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCT GCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAA CACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACAGATCTGCAGTGCCCCCTCACCATCTGTACTGTG TCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCA TCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	362	0.0028	549	c.400 others(566): Show c.4009-851_4009-850insAGATCTGCAGTGCCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCC TCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCT GCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAA CACACAGATCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTG TCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGCCCCCTCACCA TCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTG TCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACA GATCTGCAGTGCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTG CAAACTCCCTTCCCAACACAC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0232_chr4_6777727_6889164	6879827	C C	CCCTCACC others(542): Show CCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCG TCTGCAGTGCCCCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTT CCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTG CAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATCTGTA CTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCT CACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATCTG CAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAAC ACACAGGTCTGTAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACT CCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGT CACTGCAAACTCCCTTCCCAACACACAGATCTGCAGTGTCCCCTCACCAT CTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	362	0.0028	549	c.400 others(566): Show c.4009-958_4009-957insTCACCATCTGTACTGTGTCACTGCAAAC TCCCTTCCCAACACACCCGTCTGCAGTGCCCCCCCTCACCATCTGTACTG TGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCAC CATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAG TGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACA CAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGATCTGCAGTGTCCCCTCACCATCTGTACTGTGTCAC TGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCCCCTCACCATCTG TACTGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCC CTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGATC TGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCA ACACACAGGTCTGTAGTGTCC	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGCG others(542): Show CGGGTGCGGGTGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGT GAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGA TGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCG GGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACG GAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGATGGAGTGGGTGAGGGT GAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp2 others(43): Show HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG02040.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG03017.hp1 HG03017.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18964.hp2 NA18965.hp2 NA18975.hp1 NA18975.hp2 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19064.hp1 NA19074.hp1 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0003c0003t0006 a0006c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0040 others(43): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0003g0064 a0001c0001t0004g0020 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0105 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0173 a0002c0002t0001g0023 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0151 a0002c0002t0001g0176 a0003c0003t0006g0153 a0006c0005t0001g0162	46	260	0.1769	549	c.717 others(566): Show c.717-2270_717-2269insCGGGTGCGGGTGCAGGTGAGGGTGCTGA TGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTG CGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGA GGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAG GGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGG TGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGG GTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGT GAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAGGGTGCTGA TGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG TTGACGGAGCGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(542): Show GCTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCT ACCTCCACACCCACACTTACACCCACGTCCACACCCTGGGGCCCCACACT CAGGCAGTCCGCGTCCACGCTTACATCTACCTCCACGCCCACACTTAACA CCCACCCACACTTACATCTACCTGCACACCCACGCTTACACCCACGTCCA CACCGTGGGGCCCCACACTCATGCAGTCCGCGTCCACGCTTACACCTACC TCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACGCCCACACT CACACCCACCCACACTTACACCCACCCTTACACCTACCTCCACACCCACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0186 a0005c0016t0002g0186	1	290	0.0035	549	c.129 others(568): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACACTTACATCTACCTCCACACCCACACTTACACCCACGTCCACACCCTG GGGCCCCACACTCAGGCAGTCCGCGTCCACGCTTACATCTACCTCCACGC CCACACTTAACACCCACCCACACTTACATCTACCTGCACACCCACGCTTA CACCCACGTCCACACCGTGGGGCCCCACACTCATGCAGTCCGCGTCCACG CTTACACCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTC CACGCCCACACTCACACCCACCCACACTTACACCCACCCTTACACCTACC TCCACACCCACACTTACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(542): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCAC CATCACCAGCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19064.hp2 NA19079.hp2 NA18962.hp2 NA19064.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0116 a0002c0002t0001g0014 a0002c0002t0001g0116	3	362	0.0083	549	c.391 others(564): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCCTCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(542): Show GGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGT TATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	274	0.0037	549	c.224 others(568): Show c.2242-4762_2242-4761insATAACCTCCCTAACCTCCATAATCTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACC TCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCT AACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCT CCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCTTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876836	T T	TAGGGAGG others(542): Show TAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTGAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGATTAGGGAGGTGAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0003 a0001c0044t0003	a0001c0044t0003g0012 a0001c0044t0003g0012	1	274	0.0037	549	c.224 others(568): Show c.2242-4814_2242-4813insCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT CACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTA ATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTCACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACT TCCCTAACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(542): Show GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0271 a0001c0001t0034g0271	1	274	0.0037	549	c.224 others(568): Show c.2242-4879_2242-4878insATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACC TCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACCTCCATAACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877016	T T	TAGGGAAG others(542): Show TAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTG AGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGC AGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGG AGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0008 a0008	a0008c0027 a0008c0027	a0008c0027t0002 a0008c0027t0002	a0008c0027t0002g0074 a0008c0027t0002g0074	1	274	0.0037	549	c.224 others(568): Show c.2242-4994_2242-4993insCACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACT TCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTA ACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCC TAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACC TCCATAACCTCCATAACTTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(542): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGT GAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	274	0.0037	549	c.224 others(568): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACC TCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCT CCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCATA ACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCATAA CCTCCCTAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877513	G G	GGGAGGTT others(542): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG00733.hp2 HG01168.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0067 a0002c0012t0004g0070 a0002c0012t0004g0067 a0002c0012t0004g0070	2	274	0.0073	549	c.224 others(568): Show c.2242-5491_2242-5490insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NEU4_chr2_241804193_241822413	241806424	T T	TCCCCCCT others(542): Show TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	319	0.0031	549	c.-28 others(560): Show c.-2854_-2853insCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2768		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(542): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0225 a0001c0002t0012g0225	1	362	0.0028	549	c.-75 others(568): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGT ATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTG TATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTAT ACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTA TACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGT ATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCATC others(542): Show CCCCCATCCCACCCCTGCCCCCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCTTCCTCCCTCTCCCCCATCCCAC CCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTCCCTCTCCCCCGT CCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTC TCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCT GTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCT CCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTA AACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	382	0.0026	549	c.270 others(564): Show c.270+283_270+284insATCCCACCCCTGCCCCCCCTCCCATCCCAC CTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCC CTGTCCCCCTCTAAACCCCTCCTCCCTGTCCCCCTCTAAACCCCACCTCC CTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACG CCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGCACCCTTCCTCCC TCTCCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTC CTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTA AACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCTCTGC CCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACACCCCTGC ACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCC CCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCA CCCCTCCTCCCTCTTCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(542): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTA AACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTT TTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAA ACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTT TAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAAC TATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTA TGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02886.hp1 HG01069.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0089 a0001c0002t0001g0081 a0001c0002t0001g0089	2	244	0.0082	549	c.342 others(568): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAA AACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTT TAAAACTATATAAACTATATAGTTTAAACTATATAAACTATATAGTTTAA ACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAAC TATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAA ACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(542): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGAGAGAGGGAGAGGGAGGG GAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGG TGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGA GGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGA GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA CAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGG GAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0156 a0001c0004t0002g0156	1	386	0.0026	549	c.92 others(560): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTC CTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCA TCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTC TCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTC CCTCCCTCCCCTCCCACCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCC CTCCCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCTCCCTCTCTCTCCC TCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCTCTC TCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCT CTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCC CTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(542): Show CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03471.hp2 others(2): Show HG02257.hp2 HG02486.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0011 a0001c0001t0001g0025	5	388	0.0129	549	c.-94 others(558): Show c.-942_-941insTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG GGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGAC ATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		647		chr11	TogoVar
ODF3_chr11_191761_205258	196521	A A	ACATGGGG others(542): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01361.hp2 HG00323.hp1 HG01074.hp1 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	3	388	0.0077	549	c.-53 others(558): Show c.-534_-533insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAC ATGGTGAGGGGAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		239		chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(542): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATGTATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	439	0.0023	549	c.-16 others(560): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637601	C C	CGCCCGGC others(542): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0013 a0013c0016t0013	a0013c0016t0013g0271 a0013c0016t0013g0271	1	362	0.0028	549	c.-27 others(566): Show c.-27-2764_-27-2763insAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGC	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(542): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	216	0.0046	549	c.106 others(566): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(542): Show TGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCG CACACACCTGCATCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0061 a0001c0006t0001g0061	1	216	0.0046	549	c.106 others(566): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCCCG CACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PKP3_chr11_389209_409908	398485	T T	TGCGTCAC others(542): Show TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	216	0.0046	549	c.106 others(566): Show c.1069-507_1069-506insGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12			chr11	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(542): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGA AGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAA GAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGA AAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	188	0.0053	549	c.147 others(568): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTC CTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCC TTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTT TCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCT TGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTC TTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTT CTTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTC TTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTC CTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTC TTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTC TTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(542): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAAGGA AGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAA GAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAGAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGA AGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAG AAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAG GAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAA AGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAG AAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA AGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0188 a0001c0001t0005g0188	1	188	0.0053	549	c.147 others(568): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCT TCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTC TTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCT TCCTTCTCTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTC CTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTC TTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTTCTATTTC TTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(542): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCTTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTCCCCCC CCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCT CTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCC ACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTC TCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCC CCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCC CTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTC TCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 NA18522.hp2 HG02976.hp1 HG03516.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0043 a0001c0001t0086 a0002c0003t0013 a0001c0001t0043 a0001c0001t0086 a0002c0003t0013	a0001c0001t0043g0060 a0001c0001t0086g0033 a0002c0003t0013g0137 a0001c0001t0043g0060 a0001c0001t0086g0033 a0002c0003t0013g0137	3	210	0.0143	549	c.439 others(568): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCTTCCCTCTCTCCCCCACCTCCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCT CTCTCCCCTCCCTCTTCCCCCCCCCTTCTCTCTCCCCTTCCCTCTCTCCC CTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCT CCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTC CCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCC TCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTT CTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCG TCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCT CTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCC TCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113162287	C C	CCCCGTCC others(542): Show CCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCC TGCCACCTCCCCCCCATCCTCCTCCTGCTCAGCGTCCCCGTCCCCTGCCA CCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCCGCCCC ACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCCCCACATCCTC CTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCT CAGGTCCTCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCC CGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTG CCACCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACCTCC CCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCC TCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTG CTCAGGTCCCCCGTCCCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	378	0.0027	549	c.260 others(564): Show c.260-673_260-672insTGCCACCTCCCCCCCATCCTCCTCCTGCTC AGCGTCCCCGTCCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGGTCC CCGTCCCTGCCACCCGCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCC TGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGT CCCCACATCCTCCTCCTGCTCAGGTCCTCGTCCCTGCCACCTCCCCACAT CCTCCTCCTGCTCAGGTCCCCGTCCCTGCCACGTCCCCACATCCTCCTCC TGCTCAGGTCCCCGTCCCTGCCACCGCCCCACATCCTCCTCCTGCTCAGG TCCCCGTCCCTGCCACCTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTC CCTGCCACGTCCCCACATCCTCCTCCTGCTCAGGTCCCCGTCCCTGCCAC GTCCCCACATCCTCCTCCTGCTCAGGTCCCCCGTCCCTGCCACGTCCCCA CATCCTCCTCCTGCTCAGGTCCCGTCCCTGCCACCTCCCCACATCCTCCT CCTGCTCAGGTCCCCGTCC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
RAB40B_chr17_82649973_82703698	82671718	C C	CCACTGAC others(542): Show CCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATGCTCCC TGTACCCACTGACACAGCTCACCCTGTAACTCTAACACACACACTCACAT GCTCCCTGTACCCACTGACACAGCTCACCCCTGTAACTCTAACACACACA CTCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACTCACTGACACACCCCAACCCTGTAA CCCTAACACACACAGTCACACATCCTGTACTCACTGACACACTTCACCCT GTAACTCTAACACACTCACACGCTCTCTGTACTGACACACCTCACCCCTG TAACTCTAACACACACACTCTCACACACATCCTGTACTCACTGACACACT TCACCCTGTAACTCTAACACACACACGCTCCCTGTACTCACTGACACACC CCACCCCTGTAACTCTAACACACACTCACATGCTCCCTGTACTCACTGAC ACACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02970.hp2 others(4): Show HG02145.hp2 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0034 a0001c0001t0037	a0001c0001t0005g0275 a0001c0001t0007g0010 a0001c0001t0007g0254 others(4): Show a0001c0001t0005g0275 a0001c0001t0007g0010 a0001c0001t0007g0254 a0001c0001t0007g0274 a0001c0001t0007g0279 a0001c0001t0034g0273 a0001c0001t0037g0318	7	338	0.0207	549	c.143 others(566): Show c.143-7163_143-7162insAGTACAGGGAGCGTGTGAGTGTGTGTGT TAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGT GAGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAG CGTGTGAGTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGA TGTGTGACTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTA CAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCA GTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGC TGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGG GTGAGCTGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTA CAGGGGTGGGGTGTGTCAGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RFC1_chr4_39282456_39371362	39348443	A A	AAAAGGGA others(542): Show AAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	276	0.0036	549	c.132 others(566): Show c.132+2904_132+2905insCTTTCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(542): Show CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03471.hp2 others(2): Show HG02257.hp2 HG02486.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0007 a0001c0004t0001g0001 a0001c0002t0001g0007 a0001c0004t0001g0001	5	354	0.0141	549	c.16 others(560): Show c.1663_*1664insTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196521	A A	ACATGGGG others(542): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	354	0.0028	549	c.20 others(560): Show c.2071_*2072insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1947		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196521	A A	ACATGGGG others(542): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG01361.hp2 HG00323.hp2 HG01074.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	3	354	0.0085	549	c.20 others(560): Show c.2071_*2072insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGG ACATGGTGAGGGGAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1947		chr11	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(542): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	150	0.0067	549	c.77- others(566): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTC CCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTT TCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(542): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCC CCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	158	0.0063	549	c.22+ others(566): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTTCCCTCCCCTCCCCCTCCCCCTTCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTCC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTC CCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTT TCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLIT3_chr5_168656740_169306139	168726422	C C	CAGGGAGG others(542): Show CAGGGAGGGAGGGAGAGGGAGGGAGGGAGAGGGAGGGAGGAAGGGAGGGA GGGGAGAGGGAGGCAGGGAGGGAGAGGGAGGCAGGGAGGCAGGGAGGCAG GGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGG AGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAA GGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAG GGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAAGG AGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAG GGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAGGG AGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGTG GGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAG AGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0063 a0001c0006t0002g0063	1	132	0.0076	549	c.227 others(568): Show c.2271-1939_2271-1938insCCCTGCCTCCCTCTCCCTCCCTCCCT GCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCT CCCTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCC CTCCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCT CCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCC CTCCCACCCTCCCTCCCTCTCCCTCCTTCCCACCCTCCCTCCCTCTCCCT CCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCC CTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCC CTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTCTCCCT GCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTGCCTCCCTGCCTCCCT CTCCCTCCCTGCCTCCCTCTCCCCTCCCTCCCTTCCTCCCTCCCTCTCCC TCCCTCCCTCTCCCTCCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
TBC1D22A_chr22_46757650_47180693	47128160	C C	CTCCCCTC others(542): Show CTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCG CCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCC ATCCCTCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTC CGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCA TCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCC TCCGCCCCACCCATCCCTCCTCCGCCCCACCCATCCCTCCCTCCGCCCTA CCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCC TCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCC TCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCACC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	112	0.0089	549	c.142 others(570): Show c.1425+16557_1425+16558insTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCATCCC TCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCC CACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCC TCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCT CCGCCCCACCCACCACCCCTCCACCCCACCCATCCCCCCTCCCCTCACCC ATCCCTCCATCCTCCCTCCACCCCA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12			chr22	TogoVar

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Search Results (Total: 10000 hits)