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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCA CTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0136 a0136	a0136c0113 a0136c0113	a0136c0113t0011 a0136c0113t0011	a0136c0113t0011g0088 a0136c0113t0011g0088	1	249	0.0040	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCC CAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0112 a0112	a0112c0046 a0112c0046	a0112c0046t0001 a0112c0046t0001	a0112c0046t0001g0175 a0112c0046t0001g0175	1	249	0.0040	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0177 a0018c0011t0001g0178 a0018c0011t0001g0177 a0018c0011t0001g0178	2	249	0.0080	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(665): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02698.hp1 HG02895.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18971.hp1 NA18975.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp2	a0002 a0004 a0005 others(57): Show a0002 a0004 a0005 a0008 a0009 a0010 a0017 a0019 a0020 a0023 a0024 a0025 a0053 a0074 a0075 a0076 a0095 a0098 a0106 a0107 a0108 a0114 a0115 a0116 a0118 a0120 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0132 a0133 a0139 a0141 a0143 a0146 a0148 a0149 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0160 a0163 a0165 a0167 a0169 a0170 a0172 a0173 a0174 a0182 a0183 a0184	a0002c0002 a0004c0004 a0005c0015 others(58): Show a0002c0002 a0004c0004 a0005c0015 a0005c0016 a0008c0087 a0009c0006 a0010c0005 a0017c0018 a0019c0014 a0020c0067 a0023c0013 a0024c0012 a0025c0010 a0053c0144 a0074c0167 a0075c0166 a0076c0168 a0095c0025 a0098c0027 a0106c0040 a0107c0041 a0108c0117 a0114c0052 a0115c0051 a0116c0056 a0118c0112 a0120c0060 a0122c0058 a0123c0059 a0124c0080 a0125c0082 a0126c0081 a0127c0127 a0128c0114 a0132c0085 a0133c0088 a0139c0095 a0141c0068 a0143c0090 a0146c0072 a0148c0073 a0149c0069 a0151c0083 a0152c0094 a0153c0091 a0154c0092 a0155c0075 a0156c0106 a0157c0107 a0160c0064 a0163c0061 a0165c0108 a0167c0054 a0169c0053 a0170c0110 a0172c0050 a0173c0048 a0174c0116 a0182c0042 a0183c0118 a0184c0126	a0002c0002t0001 a0004c0004t0001 a0005c0015t0002 others(58): Show a0002c0002t0001 a0004c0004t0001 a0005c0015t0002 a0005c0016t0002 a0008c0087t0001 a0009c0006t0001 a0010c0005t0001 a0017c0018t0010 a0019c0014t0001 a0020c0067t0001 a0023c0013t0001 a0024c0012t0001 a0025c0010t0001 a0053c0144t0001 a0074c0167t0001 a0075c0166t0001 a0076c0168t0001 a0095c0025t0001 a0098c0027t0001 a0106c0040t0001 a0107c0041t0001 a0108c0117t0001 a0114c0052t0001 a0115c0051t0001 a0116c0056t0001 a0118c0112t0001 a0120c0060t0001 a0122c0058t0001 a0123c0059t0001 a0124c0080t0001 a0125c0082t0001 a0126c0081t0001 a0127c0127t0001 a0128c0114t0002 a0132c0085t0001 a0133c0088t0001 a0139c0095t0001 a0141c0068t0001 a0143c0090t0001 a0146c0072t0001 a0148c0073t0001 a0149c0069t0001 a0151c0083t0001 a0152c0094t0002 a0153c0091t0001 a0154c0092t0016 a0155c0075t0001 a0156c0106t0001 a0157c0107t0001 a0160c0064t0001 a0163c0061t0001 a0165c0108t0001 a0167c0054t0001 a0169c0053t0001 a0170c0110t0001 a0172c0050t0001 a0173c0048t0001 a0174c0116t0001 a0182c0042t0001 a0183c0118t0001 a0184c0126t0001	a0002c0002t0001g0168 a0004c0004t0001g0075 a0005c0015t0002g0070 others(64): Show a0002c0002t0001g0168 a0004c0004t0001g0075 a0005c0015t0002g0070 a0005c0016t0002g0180 a0005c0016t0002g0181 a0008c0087t0001g0127 a0009c0006t0001g0102 a0009c0006t0001g0133 a0010c0005t0001g0066 a0017c0018t0010g0003 a0017c0018t0010g0004 a0019c0014t0001g0072 a0019c0014t0001g0100 a0020c0067t0001g0090 a0023c0013t0001g0076 a0023c0013t0001g0113 a0024c0012t0001g0156 a0025c0010t0001g0078 a0025c0010t0001g0141 a0053c0144t0001g0008 a0074c0167t0001g0067 a0075c0166t0001g0176 a0076c0168t0001g0082 a0095c0025t0001g0137 a0098c0027t0001g0199 a0106c0040t0001g0160 a0107c0041t0001g0179 a0108c0117t0001g0165 a0114c0052t0001g0138 a0115c0051t0001g0134 a0116c0056t0001g0131 a0118c0112t0001g0109 a0120c0060t0001g0092 a0122c0058t0001g0142 a0123c0059t0001g0115 a0124c0080t0001g0201 a0125c0082t0001g0200 a0126c0081t0001g0202 a0127c0127t0001g0158 a0128c0114t0002g0084 a0132c0085t0001g0173 a0133c0088t0001g0135 a0139c0095t0001g0080 a0141c0068t0001g0073 a0143c0090t0001g0164 a0146c0072t0001g0171 a0148c0073t0001g0150 a0149c0069t0001g0162 a0151c0083t0001g0117 a0152c0094t0002g0123 a0153c0091t0001g0053 a0154c0092t0016g0247 a0155c0075t0001g0159 a0156c0106t0001g0144 a0157c0107t0001g0145 a0160c0064t0001g0151 a0163c0061t0001g0161 a0165c0108t0001g0081 a0167c0054t0001g0110 a0169c0053t0001g0132 a0170c0110t0001g0103 a0172c0050t0001g0203 a0173c0048t0001g0146 a0174c0116t0001g0107 a0182c0042t0001g0143 a0183c0118t0001g0182 a0184c0126t0001g0089	67	249	0.2691	672	c.148 others(691): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCC AGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195779684	C C	CGTGTCCT others(665): Show CGTGTCCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTG TCATCTGTGGAAGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC ACCTGTGGAAGCTGAGGAAAGGCCGGTAACAGGAAGAGGGGTGGCGTGAC CTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCT GTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGT GGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGG ATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGAT GCTGCGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATAC TGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTG AGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAG GAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGG AGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTGTAGATGCTGAGGAAG GGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGATACTGACGAAGCG TCGGTGACAAGAAGAGGGGTGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02602.hp1 HG02602.hp1	a0089 a0089	a0089c0182 a0089c0182	a0089c0182t0003 a0089c0182t0003	a0089c0182t0003g0223 a0089c0182t0003g0223	1	249	0.0040	672	c.118 others(683): Show c.11895_11896insACCACCCCTCTTCTTGTCACCGACGCTTCGTCAG TATCCACAGGTGACACCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCA TCTACAGGTCACACCACCCCTCTACCTGTCACCGACACTCCCTCAGCATC CACAGGTGACACCACCCCTCTTCCTGTCACCAATGCTTCCTCATTATCCA CACGTCACGCCACCTCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACA GGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGG TCATGCCACCCCTCTTCATGTCACCAACACTTCCGCAGCATCCACAGGTC ACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGAC ACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGC CACCCCTCTTCCTGTCACCATCCCTTCCTCAGTATCCACAGGTGACACCA TGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACC CCTCTTCCTGTTACCGGCCTTTCCTCAGCTTCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTCCTCAGCTTCCACAGATGACACCACCCGTC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGACAC	p.His others(687): Show p.His3965_Ala3966insThrThrProLeuLeuValThrAspAlaSer SerValSerThrGlyAspThrThrArgLeuProValThrSerProSerSe rAlaSerThrGlyHisThrThrProLeuProValThrAspThrProSerA laSerThrGlyAspThrThrProLeuProValThrAsnAlaSerSerLeu SerThrArgHisAlaThrSerLeuHisValThrSerProSerSerAlaSe rThrGlyHisAlaThrSerLeuProValThrAspThrSerSerValSerT hrGlyHisAlaThrProLeuHisValThrAsnThrSerAlaAlaSerThr GlyHisAlaThrProLeuProValThrSerLeuSerSerValSerThrGl yAspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyH isAlaThrProLeuProValThrIleProSerSerValSerThrGlyAsp ThrMetProLeuProValThrSerProSerSerAlaSerThrGlyHisAl aThrProLeuProValThrGlyLeuSerSerAlaSerThrGlyAspThrT hrProLeuProValThrAspThrSerSerAlaSerThrAspAspThrThr ArgLeuProValThrAspValSerSerAlaSerThrGlyHis	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12007/16756	11895/16239	3965/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195779869	G G	GGGGTGGT others(665): Show GGGGTGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTG GCGTGACCTGTGGATGCTGCGGAAGTGTTGGTGACATGAAGAGGGGTGGC ATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGAGGTGGCGTGA CGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGTGGTGTGACCTG TAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGGTGTCACCTGTG GATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTGACCTGTGGA TACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATG CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGACCTGTGGATGCC GAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGA GGAAAGGCCGGTGACAGGAAGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0093 a0093	a0093c0179 a0093c0179	a0093c0179t0012 a0093c0179t0012	a0093c0179t0012g0236 a0093c0179t0012g0236	1	249	0.0040	672	c.117 others(683): Show c.11710_11711insATCTTCCTGTCACCGGCCTTTCCTCAGCTTCCAC AGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAG GTCATGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGT GACACCACCCCTCTTCCTGGCACCGACACTTCCTCAGTATCCACAGGTCA CACCACCCCTCTTCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACA CCACCCGTCTTCCTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACC ACCCCTCTACCTGTCACCGACACTCCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCAATGCTTCCTCATTATCCACACGTCACGCCACCT CTCTTCATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCTCT CTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCT TCATGTCACCAACACTTCCGCAGCATCCACAGGTCACGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGT CACCATCCCTTCCTCAGTATCCACAGGTGACACCACCC	p.Thr others(687): Show p.Thr3903_Pro3904insHisLeuProValThrGlyLeuSerSerAla SerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAlaSe rThrGlyHisAlaThrProLeuProValThrSerThrSerSerAlaSerT hrGlyAspThrThrProLeuProGlyThrAspThrSerSerValSerThr GlyHisThrThrProLeuLeuValThrAspAlaSerSerValSerThrGl yAspThrThrArgLeuProValThrSerProSerSerAlaSerThrGlyH isThrThrProLeuProValThrAspThrProSerAlaSerThrGlyAsp ThrThrProLeuProValThrAsnAlaSerSerLeuSerThrArgHisAl aThrSerLeuHisValThrSerProSerSerAlaSerThrGlyHisAlaT hrSerLeuProValThrAspThrSerSerValSerThrGlyHisAlaThr ProLeuHisValThrAsnThrSerAlaAlaSerThrGlyHisAlaThrPr oLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrProL euProValThrAspAlaSerSerAlaSerThrGlyHisAlaThrProLeu ProValThrIleProSerSerValSerThrGlyAspThrThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11822/16756	11710/16239	3904/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781351	G G	GGAAGAGG others(665): Show GGAAGAGGGGTGGCGTGACCTGTGGATGCTGCGGAAGTGTTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAA GAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGA GAGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGG TGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTG GTGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGT GTGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGA CCTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACC TGTGGAAGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTG TGGATGCTGAGGAAGGGCTAATGACAGGAAGAGGGGTGGTGTCACCTGTG GATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGA TGCTGAGGAAGTGTCGGTGACAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0082 a0083 a0082 a0083	a0082c0191 a0083c0190 a0082c0191 a0083c0190	a0082c0191t0005 a0083c0190t0004 a0082c0191t0005 a0083c0190t0004	a0082c0191t0005g0244 a0083c0190t0004g0241 a0082c0191t0005g0244 a0083c0190t0004g0241	2	249	0.0080	672	c.102 others(683): Show c.10228_10229insTTGTCACCGACACTTCCTCAGCATCCACAGGACA GGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACA CCACCCCTCTTCCTGTCATTAGCCCTTCCTCAGCATCCACAGGTCACGCC ACCCCTCTTCATGTCACCGACGCTTCCTCAGCTTCCACAGGTGACACCAC CCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCACAGGTCATGCCACCC CTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT CTTCCTGGCACCGACACTTCCTCAGTATCCACAGGTCACACCACCCCTCT TCTTGTCACCGACGCTTCGTCAGTATCCACAGGTGACACCACCCGTCTTC CTGTCACCAGCCCTTCCTCAGCATCTACAGGTCACACCACCCCTCTACCT GTCACCGACACTCCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCAATGCTTCCTCATTATCCACACGTCACGCCACCTCTCTTCATGTCA CCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCACC GACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCATGTCACCAA CACTTCCGCAGCATCCACAGGTCACGCCACCCCTCTTC	p.Leu others(687): Show p.Leu3409_Pro3410insLeuValThrAspThrSerSerAlaSerThr GlyGlnAlaThrProLeuProValThrSerLeuSerSerValSerThrGl yAspThrThrProLeuProValIleSerProSerSerAlaSerThrGlyH isAlaThrProLeuHisValThrAspAlaSerSerAlaSerThrGlyAsp ThrThrArgLeuProValThrAsnValSerSerAlaSerThrGlyHisAl aThrProLeuProValThrSerThrSerSerAlaSerThrGlyAspThrT hrProLeuProGlyThrAspThrSerSerValSerThrGlyHisThrThr ProLeuLeuValThrAspAlaSerSerValSerThrGlyAspThrThrAr gLeuProValThrSerProSerSerAlaSerThrGlyHisThrThrProL euProValThrAspThrProSerAlaSerThrGlyAspThrThrProLeu ProValThrAsnAlaSerSerLeuSerThrArgHisAlaThrSerLeuHi sValThrSerProSerSerAlaSerThrGlyHisAlaThrSerLeuProV alThrAspThrSerSerValSerThrGlyHisAlaThrProLeuHisVal ThrAsnThrSerAlaAlaSerThrGlyHisAlaThrProLeu	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10340/16756	10228/16239	3410/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784079	T T	TGGTGACA others(665): Show TGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCG GTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTAGT GACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGA CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTAAGGAAGTGTCGGTGACA GGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAA GCGGGGTGGCGTGACCGGTGGATATTGAGGAAGTGTCGGTGACAGGAAGA GAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAG GGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAGGAAGAGGGG TGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTG GTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGC CTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGT CACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGA CCTGTGGACACTGAGGAAGCGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0087 a0087	a0087c0184 a0087c0184	a0087c0184t0003 a0087c0184t0003	a0087c0184t0003g0215 a0087c0184t0003g0215	1	249	0.0040	672	c.750 others(681): Show c.7500_7501insGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCT CTTCCTCTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCT TCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGA CACCGACACTTCCTCAGCATCCACAGGTCACGCCACCCTTCTTCCTGTCA CCGACACTTCCTCAGCATCCATAGGTCACGCCACCTCTCTTCCTGTCACC GACACTTCCTCAATATCCACCGGTCACGCCACCCCGCTTCCTGTCACCGA CACTTCCTCAGCATCCACAGGTCACGCCAACCCTCTTCATGTCACCAGCC CTTCCTCAGCATCCACCGGTCACGCCACCCCGCTTCCTGTCACCGACACT TCCTTAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCT CAGCATCCACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCA GCATCCACAGGTCAGGCCACCGCTCTTCCTGTCACC	p.Thr others(687): Show p.Thr2500_Ser2501insAspAlaSerSerValSerThrGlyHisAla ThrProLeuProLeuThrSerLeuSerSerValSerThrGlyAspThrTh rProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerValSerThrGlyAspThrThrPro LeuProValThrAspThrSerSerAlaSerThrGlyHisAlaThrProLe uProAspThrAspThrSerSerAlaSerThrGlyHisAlaThrLeuLeuP roValThrAspThrSerSerAlaSerIleGlyHisAlaThrSerLeuPro ValThrAspThrSerSerIleSerThrGlyHisAlaThrProLeuProVa lThrAspThrSerSerAlaSerThrGlyHisAlaAsnProLeuHisValT hrSerProSerSerAlaSerThrGlyHisAlaThrProLeuProValThr AspThrSerLeuAlaSerThrGlyHisAlaThrProLeuProValThrSe rLeuSerSerValSerThrGlyAspThrThrProLeuProValThrSerP roSerSerAlaSerThrGlyHisThrThrProLeuProValThrAspThr SerSerAlaSerThrGlyGlnAlaThrAlaLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7612/16756	7500/16239	2500/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784560	A A	AGTGACAG others(665): Show AGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTCGG TGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTG ACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTGTC AGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAG GCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGA AGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGCGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG GGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGG GTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGT GGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGG TGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTG TCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCCTG ACCTGTGGATGCTGAGTAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCAC CTGTGGATGCTGAGGAAGTGTCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0097 a0097	a0097c0129 a0097c0129	a0097c0129t0002 a0097c0129t0002	a0097c0129t0002g0188 a0097c0129t0002g0188	1	249	0.0040	672	c.701 others(681): Show c.7019_7020insCGACACTTCCTCAGCATCCACAGGTGACACCACCCC TCTTCCTGTCACCGACACTTACTCAGCATCCACAGGTCAGGCCACCCCTC TTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCACCCCTCTT CCTGTCACCGACACTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTG TCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTGTCAC CGACACTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACCA GCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGAT GCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACCAGCCC TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGACACTAGCCCTT CCTCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCC TCAGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTC AGTGTCCACAGATGACACCACCCCTCTTCCTGTCAC	p.Thr others(687): Show p.Thr2340_Ser2341insAspThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrTyrSerAlaSerThrGlyGlnAlaTh rProLeuProValThrAspThrSerSerAlaSerThrGlyAspThrThrP roLeuProValThrAspThrSerSerAlaSerThrGlyHisThrThrPro LeuProValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLe uProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuP roValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuPro ValThrAspThrSerSerAlaSerThrGlyAspThrThrProLeuProVa lThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValT hrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrProLeuProAspThrSe rProSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerP roSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAla SerSerValSerThrAspAspThrThrProLeuProValThr	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7131/16756	7019/16239	2340/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788085	C C	CTGACCTG others(665): Show CTGACCTGTGGATCCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGTGCTGGTGAGAGGAAGAGGGGTGGCCTGA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTG TGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTG GATAATGAGGAAGCATCGGTGACATGAAGAAGGGTGGCGTGACCTGTGGA TGCTGAGGAAGGGCTAGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACA CTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCT GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGA GGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGG AAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAA GCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAG GCTGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGC TGGTGACAGGAAGAGGGGTGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0067 a0067	a0067c0194 a0067c0194	a0067c0194t0012 a0067c0194t0012	a0067c0194t0012g0239 a0067c0194t0012g0239	1	249	0.0040	672	c.349 others(681): Show c.3494_3495insCGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGT ATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGCCTTTCCTCAGTAT CCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCC ACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCAC AGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCATTATCCACAG GTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGT GACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTGTCCACAGATGA CACCACCCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACG CCACCCTTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGTGACACC ACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTGACACCAC CCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTCTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCT TCCTGTCACCGACACTTCCTCAGGATCCACAGGTCA	p.Gly others(687): Show p.Gly1164_Gln1165insHisAlaThrProLeuProValThrSerLeu SerSerValSerThrGlyAspThrThrProLeuProValThrSerLeuSe rSerValSerThrGlyAspThrThrProLeuLeuValThrAspAlaSerS erAlaSerThrGlyGlnAlaThrProLeuProValThrSerProSerSer AlaSerThrGlyAspThrThrProLeuProValThrSerProSerSerLe uSerThrGlyAspAlaThrProLeuProValThrSerProSerSerAlaS erThrGlyAspThrThrSerLeuLeuValThrAspAlaSerSerValSer ThrAspAspThrThrProLeuProValThrSerProSerSerAlaSerTh rGlyHisAlaThrLeuLeuHisValThrAspAlaSerSerLeuSerThrG lyAspThrThrProLeuProValThrAspThrSerSerAlaSerThrGly AspThrThrProLeuProValThrAspAlaSerSerAlaSerThrGlyAs pThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnA laThrProLeuProLeuThrSerThrSerSerAlaSerThrGlyAspThr ThrProLeuProValThrAspThrSerSerGlySerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3606/16756	3494/16239	1165/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788098	G G	GCTGAGGA others(665): Show GCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGC TGAGGAAGTGCTGGTGAGAGGAAGAGGGGTGGCCTGACCTGTGGATGCTG AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAG GAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGA AGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATAATGAGGAAG CATCGGTGACATGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGGG CTAGTGACAGGAAGAGGGGTGGTGTCATCTGTGGACACTGAGGAAGCGTC GGTGACAAGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGG TGACAGGAAGAGGGGTGGCGTCACCTGTGGATAATGAGGAAGGGCTAGTG ACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGAC AGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAA GAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGA AGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAG AGGGGTGGCGTGACCTGTGGATA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01192.hp2 HG01346.hp2 HG02145.hp2 HG01192.hp2 HG01346.hp2 HG02145.hp2	a0058 a0059 a0096 a0058 a0059 a0096	a0058c0200 a0059c0201 a0096c0130 a0058c0200 a0059c0201 a0096c0130	a0058c0200t0015 a0059c0201t0009 a0096c0130t0004 a0058c0200t0015 a0059c0201t0009 a0096c0130t0004	a0058c0200t0015g0234 a0059c0201t0009g0237 a0096c0130t0004g0238 a0058c0200t0015g0234 a0059c0201t0009g0237 a0096c0130t0004g0238	3	249	0.0121	672	c.348 others(681): Show c.3481_3482insTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCA GCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGC TTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTT CCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCC TCATTATCCACAGGTGACGCCACCCCTCTTCCTGTCACCAGCCCTTCCTC AGCATCCACAGGTGACACCACCTCTCTTCTTGTCACCGACGCTTCCTCAG TGTCCACAGATGACACCACCCCTCTTCCTGTCACTAGCCCTTCCTCAGCA TCCACAGGTCACGCCACCCTTCTTCATGTCACCGATGCTTCCTCATTATC CACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCA CAGGTGACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACA GGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGG TCAGGCCACCCCTCTTCCTCTCACCAGCACTTCCTCAGCATCCACAGGTG ACACCACCCCTCTTCCTGTCACCGACACTTCCTCAG	p.Ser others(687): Show p.Ser1160_Ala1161insValSerThrGlyHisAlaThrProLeuPro ValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProVa lThrSerLeuSerSerValSerThrGlyAspThrThrProLeuLeuValT hrAspAlaSerSerAlaSerThrGlyGlnAlaThrProLeuProValThr SerProSerSerAlaSerThrGlyAspThrThrProLeuProValThrSe rProSerSerLeuSerThrGlyAspAlaThrProLeuProValThrSerP roSerSerAlaSerThrGlyAspThrThrSerLeuLeuValThrAspAla SerSerValSerThrAspAspThrThrProLeuProValThrSerProSe rSerAlaSerThrGlyHisAlaThrLeuLeuHisValThrAspAlaSerS erLeuSerThrGlyAspThrThrProLeuProValThrAspThrSerSer AlaSerThrGlyAspThrThrProLeuProValThrAspAlaSerSerAl aSerThrGlyAspThrThrProLeuProValThrAspThrSerSerAlaS erThrGlyGlnAlaThrProLeuProLeuThrSerThrSerSerAlaSer ThrGlyAspThrThrProLeuProValThrAspThrSerSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3593/16756	3481/16239	1161/5412			chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(665): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	378	0.0027	672	c.148 others(691): Show c.1480-3293_1480-3292insAGGGCGGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NFATC1_chr18_79390930_79534323	79494297	G G	GCGGGCAC others(665): Show GCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCAC ACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGC CCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATG AACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0197 a0001c0008t0014g0197	1	322	0.0031	672	c.278 others(691): Show c.2782+7378_2782+7379insCGACCTGGTGCGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACG GGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCA CACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494325	A A	ACGGCCGG others(665): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGC GGCCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGG GAAGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0008 a0001 a0008	a0001c0018 a0008c0052 a0001c0018 a0008c0052	a0001c0018t0004 a0008c0052t0036 a0001c0018t0004 a0008c0052t0036	a0001c0018t0004g0303 a0008c0052t0036g0177 a0001c0018t0004g0303 a0008c0052t0036g0177	2	322	0.0062	672	c.278 others(691): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NRG1_chr8_32543311_32779046	32543523	A A	ATGACCTG others(665): Show ATGACCTGAGCGTGTGGCACTGCCTCCAGACTCATTCTGGCCTGGACCTC CTTTCTGGGGAGCCTGCTGCTGTCTGGCAGGCTTCCAGAATGGACCGTAG CCCACTCGCTAGATGAGAGTGGCAAACGCATCCAGAAGCAAAGACGAGGA AAAAAAAAAAACAATCAAGATTTGGCCTCATCTAATGTTCATGGTTCTTA AAATAAATGTATTGCTTGACAGAGGAAGTAACCCATACACAAAGTCTCTA CTACCCCAAATCAAGTGAGTCACATCTGTTGGCAGCGAGCACAATAAATA ACAAAACTCACCTGGGCTCCCCATCGTTTCCCTTTAAAACAATCATCTCT TGTCAGAACACACAAAATATCTTCCATCTTAATCTCAGAAACGCTGTAAA AGGAAGGGCACAGCAAGGTAACTTTTTGCTCTTTCAAAAACACCCAAGAC CTTGATGCACAAAACTGGCCTATTCTTGAGCTAATTAGACATGAAGTAGA AGTGACACCTTCCTAGGAAAGGAAATATTTTCCTAAACCCTTAGGAATTG AGAAGGGGACCTCCATGATATTAAAGGGACAGGATGATATTCCTGACAAT TTCTTTCCTCTCTGATGAATTTAAAATAGGCTACATTTAGAATTTCCTTA ATAGAGATTATGTCATTATTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0092 a0004c0005t0092	a0004c0005t0092g0113 a0004c0005t0092g0113	1	244	0.0041	672	c.-52 others(683): Show c.-5204_-5203insTGACCTGAGCGTGTGGCACTGCCTCCAGACTCAT TCTGGCCTGGACCTCCTTTCTGGGGAGCCTGCTGCTGTCTGGCAGGCTTC CAGAATGGACCGTAGCCCACTCGCTAGATGAGAGTGGCAAACGCATCCAG AAGCAAAGACGAGGAAAAAAAAAAAACAATCAAGATTTGGCCTCATCTAA TGTTCATGGTTCTTAAAATAAATGTATTGCTTGACAGAGGAAGTAACCCA TACACAAAGTCTCTACTACCCCAAATCAAGTGAGTCACATCTGTTGGCAG CGAGCACAATAAATAACAAAACTCACCTGGGCTCCCCATCGTTTCCCTTT AAAACAATCATCTCTTGTCAGAACACACAAAATATCTTCCATCTTAATCT CAGAAACGCTGTAAAAGGAAGGGCACAGCAAGGTAACTTTTTGCTCTTTC AAAAACACCCAAGACCTTGATGCACAAAACTGGCCTATTCTTGAGCTAAT TAGACATGAAGTAGAAGTGACACCTTCCTAGGAAAGGAAATATTTTCCTA AACCCTTAGGAATTGAGAAGGGGACCTCCATGATATTAAAGGGACAGGAT GATATTCCTGACAATTTCTTTCCTCTCTGATGAATTTAAAATAGGCTACA TTTAGAATTTCCTTAATAGAGATTATGTCATTATTTCT		NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding					4787		chr8	TogoVar
OLFML1_chr11_7480506_7516377	7491543	T T	TTCTCTAT others(665): Show TTCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCA CTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCT GTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCAT AGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTG GGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGA ATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCA CACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTTC TCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACAC ATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAGT CTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCACT GTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTGT TAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCATAG ATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTGGG TCAGGAGTCCATGCATGGCTTAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02109.hp2 others(8): Show HG00639.hp1 HG01243.hp2 HG02109.hp2 HG02451.hp2 HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0003c0003t0016	a0001c0001t0003g0058 a0001c0001t0003g0143 a0001c0001t0003g0146 others(8): Show a0001c0001t0003g0058 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0005g0224 a0001c0001t0008g0138 a0001c0001t0008g0139 a0003c0003t0016g0223	11	388	0.0284	672	c.418 others(689): Show c.418+3248_418+3249insGGTTCTCATGCTATACAACAAATTACCA TAGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGT GGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGG AATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGC ACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTT CTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACA CATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG TCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCAC TGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTG TTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCATA GATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTGG GTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGAA TGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCAC ACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATC		OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(665): Show CTATAGATAGACATATAGATGTATCTATAGATAGACATATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	672	c.-26 others(683): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TATGTCTATCTATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(665): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	672	c.-26 others(683): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PDCD6_chr5_266646_319974	318220	C C	CACTCACC others(665): Show CACTCACCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTG CACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCAC CCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCC TCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCC CCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTA CCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTT CACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTC CCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCAT CTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAT CCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	360	0.0028	672	c.37 others(683): Show c.3705_*3706insACTCACCCTCCACCTCCCCCCTCACCCTCCACCT CCCCCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCC TTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAAT CCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCC CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACC TCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA CCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCC CCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCC CCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACC CTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3247		chr5	TogoVar
PIWIL1_chr12_130332887_130377637	130338277	G G	GGATGCAG others(665): Show GGATGCAGGAGCCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAG GAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGG TGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGG CGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCC CAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCG GGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGC AGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCG GGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGG GGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGT CCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTG CGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGAT GCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGC CAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCG GGGTCGAGGTCCCAGGTGCGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0296 a0001c0001t0007g0296	1	425	0.0024	672	c.-13 others(687): Show c.-13+143_-13+144insAGATGCGGTGGCGAGGTCGCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGG AGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGAT GCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTC GAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCC AGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGG GAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCA GGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGG GTGCGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGG GCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGC GGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGGGATG CAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC GGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC		PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(665): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCT ATGATATCTAGAGATGTCTATAGATTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATAT CTATGATATCTCGAGATATCTATAGATTAGATATCTATGATATCTAGAGA TATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0340 a0003c0003t0023g0340	1	346	0.0029	672	c.176 others(691): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGATA TCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAG ATATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCT CTAGATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATAT CTCTAGATATAGATATCCAATCTATAGATATCTCTAGATATCACAGATAT CTAATCTATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCAT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(665): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTA AGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAC TGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAACTG TTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	140	0.0071	672	c.-78 others(691): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGT CATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGTCA TATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA CAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATACA GTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA		PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39					INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(665): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGACAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGA GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGG GGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGA GGGAAGGAAGGGGGAGAGGAGGAAAAGAAGGGGGAGAGGAGGAAAGGAAG GTGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGGGGGAGAG GAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGGAG GAAGGAAGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAGCTAACT TCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAG GGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGG AAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0021 a0001c0022t0021	a0001c0022t0021g0045 a0001c0022t0021g0045	1	62	0.0161	672	c.88+ others(691): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTC TCCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCACCTT CCTTTCCTCCTCTCCCCCTTCTTTTCCTCCTCTCCCCCTTCCTTCCCTCC TCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCC TTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCT CCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCC CCTTCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTT CCTTCCCTCGTCTCTGCCCTTCCTTCCTTCCCTCCTCTCTGTCCTTCCTT CCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCC CTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC		PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30						chr20	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(665): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAG GCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGC AGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAG GTCCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG01891.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0375 a0001c0003t0001g0029 a0001c0003t0001g0375	2	426	0.0047	672	c.173 others(689): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTC CCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG CGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCG TAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTA GAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG		RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1						chr13	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGCCCC others(665): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	330	0.0030	672	c.-51 others(683): Show c.-5185_-5184insGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC		RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding					4935		chr9	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(665): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TAATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATATTATGGATAATATATTATATT ATGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATATTATGGATAATATAATATAATATATTATATTA TGGATAATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	160	0.0063	672	c.389 others(693): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT AATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATATTATATTATGGATAATATATTATGGATAATATATTATATTA TGGATAATATATTATGGATAATATATTATATTATGGATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATATTATGGATAATATAATATAATATATTATATTAT GGATAATATAATATAATATATCATATTATGGATAATATAATATATTAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	272932	A A	ATCAGGGA others(665): Show ATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGA GACCCCGGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCG ACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCG AGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGAAGAGACC CCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGA GAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGG CGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGA CCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGG GTGAGACCCCAGCGAGGGTGACG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	133	0.0075	672	c.438 others(689): Show c.438+8835_438+8836insCGTCACCCTCGCTGGGGTCTCACCCTGA AGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCT CCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCT GACGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCT CTTCCTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTG GGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCC TCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCCGGGGTCTCACC CTGAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGT CTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGC TGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	273212	G G	GTCAGGGA others(665): Show GTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCG GGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAAGA GACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCA GGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTG ACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCG CGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACC CCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGAA GAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGT CAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGG TGACGTCAGGAAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAG CGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGA CCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGG AAGAGACCCCAGCGCGGGTGACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	672	c.438 others(689): Show c.438+8555_438+8556insAGTCACCCGCGCTGGGGTCTCTTCCTGA CGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCACCCTCGCTGGGGTCTCA CCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGG GTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTCACCCTC GCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCTGACGTC ACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCT GACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCT CACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTG GGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCC TCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACG TCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTTC CTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGT CTCTCCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGC TGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SAMD11_chr1_918923_949574	934833	C C	CCGTTACA others(665): Show CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0183 a0003c0006t0003g0183	1	434	0.0023	672	c.843 others(687): Show c.843-920_843-919insGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290009	C C	CCTGCTCC others(665): Show CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	290	0.0035	672	c.166 others(689): Show c.1663-250_1663-249insCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SFMBT2_chr10_7153624_7416034	7378215	T T	TGGATGGA others(665): Show TGGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGG TGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGT GAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGT GAGTGTGGGTGTGTGTGGATGTATGTGTGGATGGGTGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTG AGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTGTGAGTGTGGGTGTG TGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGTGAGTGTGGGTGTGT GTGGGTGTATGTGTGGATGGGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp1 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0099 a0001c0001t0004g0098 a0001c0001t0003g0099 a0001c0001t0004g0098	2	144	0.0139	672	c.100 others(689): Show c.100+3583_100+3584insCACCCATCCACACATACACCCACACACA CCCACACTCACACCCATCCATCACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCACCCATCCACACATACATCCACACACACCCACACTCACACC CATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACACC CATCCATCACCCATCCACACATACACCCACACACACCCACACTCACACCC ATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACACCC ATCCATCACCCATCCACACATACACCCACACACACCCACACTCACACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCCACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCCACCCA TCCACACATACACCCACACACACCCACACTCACACCCATCCATCACCCAT CCACACATACACCCACACACACCCACACTCACACCCATCCATCC		SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20						chr10	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(665): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAA AGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAG TGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGAC ATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCC TGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTA CAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTA GGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAA ACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGAT AAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAG AGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAG ACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTG CCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACAT TACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	376	0.0027	672	c.331 others(689): Show c.331-2651_331-2650insTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTC TGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA TCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTT TTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCT ACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGT AATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAG GCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATG TCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCAC TCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTT TATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTG TTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATC CTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTT GTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA		SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8						chr3	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(665): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGG GGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	672	c.12 others(683): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(665): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG ATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGGAGGAGGGAGGG GGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGA AGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAGGGA GGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGAAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	672	c.12 others(683): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTTCCCCCTCC CCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CCTTCGCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCC CCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCT CCCCCCCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1134		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168594264	C C	CGGGCATC others(665): Show CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGAGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCT TCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCC TCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTCCT CCTCCTTCCTGAGGCCTCACGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18944.hp2 NA19088.hp2 others(1): Show HG02293.hp1 NA18944.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0097 a0001c0002t0002g0015 a0001c0002t0002g0019 others(1): Show a0001c0001t0001g0097 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020	4	180	0.0222	672	c.638 others(689): Show c.638-4535_638-4534insGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCGCGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGAGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCC TTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCT CCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCC TCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGAT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(665): Show TCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	270	0.0037	672	c.451 others(689): Show c.451-2705_451-2704insGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF25_chr16_89868592_89916379	89908688	A A	ACCTCCCT others(665): Show ACCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCG CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCACCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCT CCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACC TCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCT CCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTC CCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCCAGCTCCCACCTTC CAGCTCCCAGCTCCCAGCTCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp2 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0181 a0001c0001t0001g0189	2	300	0.0067	672	c.179 others(691): Show c.1799+1372_1799+1373insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCC		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(665): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCGCCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCC TCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCT CCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTC CCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCC CACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCC AGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	300	0.0033	672	c.179 others(691): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCG CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCACCTC CCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCC ACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCA CCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTC CTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGC TCCCACCTTCCAGCTCCCAGCTCCCGCCTCCCGCCTCCCAGCTCCC		TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(665): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATC CACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	392	0.0026	672	c.228 others(691): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290216	A A	ACCGCGCC others(665): Show ACCGCGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACAGTGCC TCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCAC CCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACG TGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGG ACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCGCG CCTCACTCACCCTGAACGTGACAGGGACACCCGGGGACCGCGCCTCACTC ACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCA CGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAG GGACACCCGGGGGCCGTGCCTCACTCACCCTACACGTGACAGAGACACCC GGGGGCCGTGCCTCACTCACCCTGCACATGACAGGGACACCCGGGGGCCG TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTA CACGTGACAGGGACACCCGGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0191 a0001c0008t0002g0191	1	392	0.0026	672	c.157 others(691): Show c.1573+3096_1573+3097insCCCCCGGGTGTCCCTGTCACGTGTAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTG AGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGG CCCCCGGGTGTCCCTGTCATGTGCAGGGTGAGTGAGGCACGGCCCCCGGG TGTCTCTGTCACGTGTAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCCCGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAG TGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGC GGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCG GGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGT GCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTG AGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC ACTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290288	G G	GGACACCC others(665): Show GGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCC GGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG TGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGAC AGGGACATCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGACAT CCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTC ACTCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGG ACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCC TCACTCACCCTGCACGTGACAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	392	0.0026	672	c.157 others(691): Show c.1573+3024_1573+3025insTCTGTCACGTGCAGGGTGAGTGAGGC GCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCC CGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTC CCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCAC GTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGG TGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAG GCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGATG TCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGATGTCCCTGTC ACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCACGG CCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1290640	T T	TGCCTCAC others(665): Show TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCAC TCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGAC AGAGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACAC CCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGAC GGCGCCTCACTCACCCTGCACGTGACAGAGACATCCGGGGACGGCGCCTC ACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTG ACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGAC ACCCGGGGACCGCGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGG ACAGTGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGCGCC TCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCAC CCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACG TGACAGAGACACCCGGGGACGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02922.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 others(2): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236	5	392	0.0128	672	c.157 others(691): Show c.1573+2672_1573+2673insGCCGTCCCCGGGTGTCTCTGTCACGT GCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTG AGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGC GCGGCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACTGTCCC CGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTC CCTGTCACGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCAC GTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGG TGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAG GCGCCGTCCCCGGATGTCTCTGTCACGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTG TCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTC ACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTG AGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGC		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15						chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(665): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATACATATTATATATTATATATTATATACATATTATACATTATATATAT CTAAAATATATAATACACATTATATATTATATAATACACATTATATATAA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA TAATACACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATATAATACACATTATATATTATA TATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	360	0.0028	672	c.62 others(683): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATAATATATAATGTGTATTATATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATTATATATAAT GTGTATTATATAATATATAATGTGTATTATATATTTTAGATATATATAAT GTATAATATGTATATAATATATAATATATAATATGTATATAATATATAAT ATGTATATAATATATAATATATAATATGTATATTATATATAATATATAAT ACATATAATATGTATATTATATATATAATATATAATATATAATACATATA ATATGTATATTATATATATAATATATAATATATAATACATATAATATGCA TATTATATATAATATATTATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGTATATAATAGGTATATTATATATAATA		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding					3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAAAAT others(665): Show TATAAAATATACCTATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATATAATATACCTATTATATGCATTAT ATATAATATACCTATTATATGCATTATATATAATATACCTATTATATGCA TTATATAATATATTATATATAATATGCATATTATATGTATTATATATTAT ATATTATATATAATATACATATTATATGTATTATATATTATATATTATAT ATATAATATACATATTATATGTATTATATATTATATATAATATACATATT ATATATTATATATTATATACATATTATATATTATATACATATTATATATT ATATACATATTATATATTATATATTATATATTATATACATATTATACATT ATATATATCTAAAATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATTATATATAATACACATTATATATTATATATAATACACATTATATATTA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATAATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0029 a0001c0006t0007g0029	1	360	0.0028	672	c.62 others(683): Show c.6207_*6208insGTATTATATATTATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTA TATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAATA TGTATATAATATATAATATATAATATATAATATGTATATAATATATAATA TGTATATAATATATAATATGTATATAATATATAATATATAATATGTATAT TATATATAATATATAATACATATAATATGTATATTATATATATAATATAT AATATATAATACATATAATATGTATATTATATATAATATATAATATATAA TACATATAATATGCATATTATATATAATATATTATATAATGCATATAATA GGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATAGGTATATTTTAT		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding					3373		chr20	TogoVar
TH_chr11_2158929_2176815	2161832	A A	ACACCCCT others(665): Show ACACCCCTGTCCCCACACACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCC CCGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCCGGACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCCGGACCCCTGTCC CCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CAGACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	388	0.0026	672	c.24 others(683): Show c.2400_*2401insCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC CGGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGA CAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGT GTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCTGGGGACAGGGGTGTGTGGGGACAGGGGTG		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2096		chr11	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(665): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGTGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGTGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGTGAAGGGAGTGGGCACAGGGGTGAAGGGAGTGGGCACA GGGGTGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGTGAAGGGAGTGGGCACAGGGGTGAAGGGAGTGG GCACAGGGGTGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	444	0.0023	672	c.227 others(691): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCACCCCTGTGCCCA CTCCCTTCACCCCTGTGCCCACTCCCTTCACCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCACCCCTGT GCCCACTCCCTTCACCCCTGTGCCCACTCCCTTCACCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCACCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCACCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(665): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0369 a0003c0003t0003g0369	1	444	0.0023	672	c.227 others(691): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMC6_chr17_78102397_78133755	78115849	G G	GGCGAAGG others(665): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0242 a0001c0005t0001g0242	1	444	0.0023	672	c.227 others(691): Show c.2277+1419_2277+1420insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747551	G G	GCTGGGGT others(665): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	314	0.0032	672	c.189 others(687): Show c.189-762_189-761insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747593	G G	GCTGGGGT others(665): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0019 a0001c0001t0069g0019	1	314	0.0032	672	c.189 others(687): Show c.189-720_189-719insTGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar

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