JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MMP26_chr11_4699784_4997429	4781291	TAAAAACT others(304): Show TAAAAACTGATTGCAGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00639.hp2 others(67): Show HG00140.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03710.hp2 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0003c0003 a0004c0007 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0004c0007t0001 a0005c0006t0001 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(67): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0003g0193 a0001c0001t0003g0197 a0001c0004t0001g0148 a0001c0004t0001g0158 a0001c0008t0001g0151 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0145 a0002c0002t0001g0152 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0187 a0003c0003t0001g0123 a0003c0003t0001g0156 a0003c0003t0001g0177 a0003c0003t0001g0180 a0003c0003t0001g0183 a0003c0003t0001g0200 a0004c0007t0001g0157 a0005c0006t0001g0055 a0006c0005t0001g0150	70	206	0.3398	-311	c.-14 others(21): Show c.-145+13965_-145+14275del	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MTUS2_chr13_28815339_29510947	29317425	TCTCTCTC others(304): Show TCTCTCTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(63): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01891.hp2 HG01978.hp2 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18944.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015	a0001c0001 a0001c0005 a0001c0010 others(17): Show a0001c0001 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0002c0011 a0003c0003 a0003c0009 a0004c0008 a0004c0019 a0004c0020 a0005c0007 a0006c0006 a0007c0004 a0008c0023 a0009c0022 a0011c0015 a0012c0013 a0014c0018 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0005t0001 a0001c0005t0014 a0001c0010t0006 a0001c0012t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0011t0023 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0009t0020 a0003c0009t0029 a0004c0008t0001 a0004c0008t0009 a0004c0019t0001 a0004c0020t0001 a0005c0007t0002 a0006c0006t0002 a0006c0006t0005 a0007c0004t0001 a0008c0023t0022 a0009c0022t0007 a0011c0015t0004 a0012c0013t0002 a0014c0018t0015 a0015c0017t0001	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 others(63): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0002g0048 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0003g0038 a0001c0001t0003g0086 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0021 a0001c0001t0005g0031 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0016g0029 a0001c0001t0017g0025 a0001c0001t0021g0016 a0001c0001t0030g0033 a0001c0001t0031g0032 a0001c0001t0032g0034 a0001c0005t0001g0074 a0001c0005t0014g0026 a0001c0010t0006g0004 a0001c0012t0010g0068 a0002c0002t0001g0014 a0002c0002t0001g0070 a0002c0002t0002g0057 a0002c0002t0003g0012 a0002c0002t0003g0035 a0002c0002t0004g0058 a0002c0002t0005g0019 a0002c0002t0008g0092 a0002c0002t0009g0067 a0002c0002t0011g0064 a0002c0002t0024g0059 a0002c0002t0025g0079 a0002c0002t0026g0036 a0002c0002t0027g0050 a0002c0002t0028g0062 a0002c0011t0023g0041 a0003c0003t0001g0037 a0003c0003t0001g0075 a0003c0003t0003g0009 a0003c0003t0004g0061 a0003c0009t0020g0052 a0003c0009t0029g0005 a0004c0008t0001g0007 a0004c0008t0009g0072 a0004c0019t0001g0015 a0004c0020t0001g0017 a0005c0007t0002g0060 a0006c0006t0002g0049 a0006c0006t0005g0024 a0007c0004t0001g0088 a0008c0023t0022g0053 a0009c0022t0007g0023 a0011c0015t0004g0002 a0012c0013t0002g0055 a0014c0018t0015g0027 a0015c0017t0001g0006	66	92	0.7174	-311	c.280 others(19): Show c.2807-7177_2807-6867del	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO10_chr5_16656907_16941288	16698611	AGAGAACA others(304): Show AGAGAACATGCAGTTTTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTG TCGCCCAGGCTGGGGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAGGTAGCTGGCA CTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGCGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCACGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG02257.hp1 others(18): Show HG00639.hp2 HG01074.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0009 a0014 a0035	a0001c0001 a0001c0015 a0001c0022 others(14): Show a0001c0001 a0001c0015 a0001c0022 a0001c0025 a0001c0034 a0001c0042 a0001c0046 a0001c0047 a0002c0002 a0002c0054 a0004c0061 a0005c0005 a0005c0058 a0008c0024 a0009c0065 a0014c0017 a0035c0062	a0001c0001t0042 a0001c0015t0131 a0001c0022t0046 others(17): Show a0001c0001t0042 a0001c0015t0131 a0001c0022t0046 a0001c0022t0157 a0001c0025t0149 a0001c0025t0150 a0001c0034t0036 a0001c0042t0153 a0001c0046t0013 a0001c0047t0040 a0002c0002t0059 a0002c0054t0052 a0004c0061t0036 a0005c0005t0012 a0005c0005t0142 a0005c0058t0151 a0008c0024t0013 a0009c0065t0107 a0014c0017t0116 a0035c0062t0045	a0001c0001t0042g0003 a0001c0015t0131g0015 a0001c0022t0046g0242 others(18): Show a0001c0001t0042g0003 a0001c0015t0131g0015 a0001c0022t0046g0242 a0001c0022t0157g0265 a0001c0025t0149g0025 a0001c0025t0150g0202 a0001c0034t0036g0013 a0001c0042t0153g0261 a0001c0046t0013g0199 a0001c0047t0040g0005 a0002c0002t0059g0220 a0002c0054t0052g0157 a0004c0061t0036g0035 a0005c0005t0012g0184 a0005c0005t0142g0240 a0005c0058t0151g0028 a0008c0024t0013g0008 a0008c0024t0013g0033 a0009c0065t0107g0087 a0014c0017t0116g0006 a0035c0062t0045g0254	21	272	0.0772	-311	c.355 others(17): Show c.3556+528_3556+838del	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	26/40			chr5	TogoVar
MYZAP_chr15_57586904_57690364	57688080	TATATGTG others(304): Show TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA TATATGTGTGTACAATATACACATATATTATGTGTGTACAATATACACAT ATATTATGTGTGTACAATATACACATATATAATATGTGTGTACAATATAC ACATATATATAATATGTGTGTACAATATACACATATATATAATATGTGTG TACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	352	0.0028	-311	c.35 others(11): Show c.3583_*3893del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2717		chr15	TogoVar
NEU4_chr2_241804193_241822413	241807120	GGAACCTC others(304): Show GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC AGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCC CCCCTCAGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	319	0.0031	-311	c.-21 others(11): Show c.-2157_-1847del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2072		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807193	GCCCAGGA others(304): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCA GGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03139.hp2 NA18940.hp2 HG01109.hp1 HG03139.hp2 NA18940.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0007 a0004c0009 a0001c0002 a0003c0007 a0004c0009	a0001c0002t0001 a0003c0007t0002 a0004c0009t0001 a0001c0002t0001 a0003c0007t0002 a0004c0009t0001	a0001c0002t0001g0187 a0003c0007t0002g0147 a0004c0009t0001g0003 a0001c0002t0001g0187 a0003c0007t0002g0147 a0004c0009t0001g0003	3	319	0.0094	-311	c.-20 others(11): Show c.-2084_-1774del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1999		chr2	TogoVar
NLRP4_chr19_55831540_55886855	55862221	CGTTTATT others(304): Show CGTTTATTGAGACCACTGATTAGGTTTCAGAGAAAACTATAGCATAAGTC TCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCGTAAG TCTCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCGTA AGTCTCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCG TAAGTCTCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAG CGTAAGTCTCCGTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATA GCGTAAGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp1 HG03195.hp2 HG01243.hp2 HG02896.hp1 HG03195.hp2	a0002 a0009 a0002 a0009	a0002c0009 a0002c0017 a0009c0022 a0002c0009 a0002c0017 a0009c0022	a0002c0009t0007 a0002c0017t0005 a0009c0022t0015 a0002c0009t0007 a0002c0017t0005 a0009c0022t0015	a0002c0009t0007g0405 a0002c0017t0005g0365 a0009c0022t0015g0226 a0002c0009t0007g0405 a0002c0017t0005g0365 a0009c0022t0015g0226	3	424	0.0071	-311	c.218 others(16): Show c.2186+83_2186+393del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXN_chr17_794310_984776	835726	AAAAAACA others(304): Show AAAAAACACCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCAGGGGAAAA ACACCGGTGGGATTCGTCAGCCTCATAGAGGCCGCAGGGGAAAAACACCG GTGGGATTCGTCAGCCTCATAGAGGCCGCAGGGAAAAAACACCGGTGGGA TTCGTCAGCCCCCACAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGT CAGCCTCATAGAGGCCGCAGGGGAAAAACACCGGTGGGATTCGTCAGCCT CATAGAGGCCGCAGGGAAAAAACACCGGTGGGATTCGTCAGCCCCCACAG AGGCCGCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp2 HG02622.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0014 a0001c0001t0027g0010 a0001c0001t0001g0014 a0001c0001t0027g0010	2	242	0.0083	-311	c.361 others(17): Show c.361-9959_361-9649del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PDE7B_chr6_135846701_136200574	135914489	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCGCCTCAGCCTCCCGAGAGCTGGGACTACAGGCGC CCCTACCACGCCCGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCT ATAATGCTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03195.hp2 NA20300.hp1 HG01496.hp2 HG03195.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 a0001c0001t0001 a0001c0001t0002 a0001c0003t0006	a0001c0001t0001g0025 a0001c0001t0002g0030 a0001c0003t0006g0021 a0001c0001t0001g0025 a0001c0001t0002g0030 a0001c0003t0006g0021	3	142	0.0211	-311	c.22- others(17): Show c.22-32974_22-32664del	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12			chr6	TogoVar
PRKN_chr6_161342417_162732766	162472490	TTATTTTT others(304): Show TTATTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGC CCCAAACTTTTA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0026 a0003c0005t0002g0026	1	32	0.0313	-311	c.8-2 others(15): Show c.8-29328_8-29018del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
RAB11FIP3_chr16_420649_528011	480776	GCGTGAGC others(304): Show GCGTGAGCCACTGCGCCCGGCCTGTATTTATTTATTTTAATTTTTTTTTT TTCAGACAGAGTTTTGCTCTTGTTGCCCAGGCTCGAGTGCAATGGAGTGA TCTCAGCTCACCACAACATCCACCTCCCTGGTTCAAGCAATTTGCCTGCC TCAGCCTCCTGAGTAGCTGGGATACAGGAGTTCGCCACCACACCCGGCTA ATTTTGTATTTTCAGTAGAGACGGGGTTTTTCCATATTGGTCAGGCTGGT CTCGAACTCCCAACCTCAGGTGATCCTTCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(81): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19030.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0011 others(5): Show a0001c0001 a0001c0002 a0001c0011 a0001c0019 a0002c0003 a0004c0007 a0005c0017 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0056 a0001c0002t0002 a0001c0002t0016 a0001c0002t0030 a0001c0011t0002 a0001c0019t0002 a0002c0003t0007 a0002c0003t0011 a0004c0007t0022 a0005c0017t0037 a0008c0016t0002	a0001c0001t0001g0140 a0001c0001t0002g0002 a0001c0001t0002g0005 others(81): Show a0001c0001t0001g0140 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0235 a0001c0001t0003g0252 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0004g0018 a0001c0001t0005g0007 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0237 a0001c0001t0008g0294 a0001c0001t0010g0004 a0001c0001t0011g0132 a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0014g0177 a0001c0001t0015g0122 a0001c0001t0015g0123 a0001c0001t0015g0127 a0001c0001t0015g0136 a0001c0001t0015g0184 a0001c0001t0016g0003 a0001c0001t0016g0011 a0001c0001t0024g0129 a0001c0001t0024g0185 a0001c0001t0029g0020 a0001c0001t0033g0128 a0001c0001t0034g0208 a0001c0001t0041g0126 a0001c0001t0045g0138 a0001c0001t0046g0131 a0001c0001t0047g0139 a0001c0001t0056g0124 a0001c0002t0002g0121 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0183 a0001c0002t0002g0190 a0001c0002t0002g0250 a0001c0002t0002g0255 a0001c0002t0016g0155 a0001c0002t0016g0156 a0001c0002t0030g0147 a0001c0011t0002g0019 a0001c0019t0002g0012 a0002c0003t0007g0095 a0002c0003t0007g0096 a0002c0003t0011g0102 a0004c0007t0022g0067 a0005c0017t0037g0100 a0008c0016t0002g0114	84	295	0.2848	-311	c.904 others(17): Show c.904-1739_904-1429del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RYR3_chr15_33305967_33871102	33858195	AAAGATGA others(304): Show AAAGATGAGACATTATTTTATTTTTTTGAGATGGAGTTTTGCTTTTGTCG CCCAGGCTGGAGTGCAATGGCGTCATCTCAGCTCATTGCAACCTCCGCCT CTCAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCTAGTAGCTGGGATTA CAGGCATGCACCACCACACCTGGCTAATTTTGTATTTTTTTTAGTAGTGA TGGGGTTTCTCTATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGT GATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CTGCACCTGGCC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0006 a0006	a0006c0097 a0006c0097	a0006c0097t0001 a0006c0097t0001	a0006c0097t0001g0081 a0006c0097t0001g0081	1	154	0.0065	-311	c.141 others(19): Show c.14142+298_14142+608del	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	99/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SAMD12_chr8_118372984_118626963	118434805	TAAAGTGT others(304): Show TAAAGTGTGCTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp2 others(87): Show HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG02055.hp2 HG02155.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18974.hp1 NA18977.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19011.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0003t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 others(87): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0105 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0003g0006 a0001c0001t0003g0040 a0001c0001t0003g0055 a0001c0001t0003g0077 a0001c0001t0003g0095 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0188 a0001c0001t0004g0058 a0001c0001t0004g0146 a0001c0001t0004g0184 a0001c0001t0006g0028 a0001c0001t0006g0053 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0115 a0001c0001t0010g0002 a0001c0001t0012g0003 a0001c0001t0015g0152 a0001c0001t0018g0089 a0001c0001t0019g0044 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0001g0072 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0109 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0175 a0001c0002t0001g0179 a0001c0002t0005g0021 a0001c0002t0005g0081 a0001c0002t0005g0132 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0145 a0001c0002t0005g0148 a0001c0003t0002g0039 a0001c0003t0002g0060 a0001c0003t0002g0068 a0001c0003t0002g0096 a0001c0003t0002g0111 a0001c0003t0002g0186	90	188	0.4787	-311	c.322 others(17): Show c.322+4716_322+5026del	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289698	TCTGCTCC others(304): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01952.hp1 HG01169.hp2 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0002 a0001c0020 a0002c0002	a0001c0020t0001 a0002c0002t0001 a0001c0020t0001 a0002c0002t0001	a0001c0020t0001g0176 a0002c0002t0001g0047 a0001c0020t0001g0176 a0002c0002t0001g0047	2	290	0.0069	-311	c.166 others(17): Show c.1663-555_1663-245del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84121627	TGGTTCCA others(304): Show TGGTTCCAAGTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(241): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0016 a0002c0006 a0002c0009 a0002c0015 a0003c0010 a0004c0011 a0005c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0002 a0001c0002t0038 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0015 a0001c0003t0020 a0001c0003t0032 a0001c0003t0033 a0001c0004t0005 a0001c0004t0008 a0001c0004t0015 a0001c0004t0016 a0001c0004t0019 a0001c0004t0031 a0001c0004t0036 a0001c0004t0037 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0009 a0001c0005t0010 a0001c0005t0011 a0001c0005t0034 a0001c0007t0001 a0001c0008t0008 a0001c0008t0013 a0001c0013t0002 a0001c0016t0002 a0002c0006t0010 a0002c0009t0021 a0002c0015t0035 a0003c0010t0015 a0004c0011t0002 a0005c0014t0008	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 others(241): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0043 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0261 a0001c0001t0004g0008 a0001c0001t0004g0059 a0001c0001t0004g0073 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0152 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0245 a0001c0001t0004g0250 a0001c0001t0007g0092 a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0007g0158 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0192 a0001c0001t0007g0231 a0001c0001t0007g0236 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0009g0013 a0001c0001t0009g0061 a0001c0001t0009g0162 a0001c0001t0009g0213 a0001c0001t0009g0237 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0010g0180 a0001c0001t0011g0033 a0001c0001t0011g0107 a0001c0001t0011g0195 a0001c0001t0017g0007 a0001c0001t0017g0263 a0001c0001t0018g0003 a0001c0001t0018g0121 a0001c0001t0022g0225 a0001c0001t0023g0087 a0001c0001t0024g0212 a0001c0001t0025g0015 a0001c0001t0026g0267 a0001c0001t0027g0272 a0001c0001t0028g0057 a0001c0001t0029g0025 a0001c0001t0030g0117 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0109 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0193 a0001c0002t0002g0210 a0001c0002t0002g0233 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0262 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0002t0038g0020 a0001c0003t0005g0252 a0001c0003t0006g0014 a0001c0003t0006g0072 a0001c0003t0006g0083 a0001c0003t0006g0151 a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0163 a0001c0003t0006g0219 a0001c0003t0006g0222 a0001c0003t0006g0246 a0001c0003t0008g0068 a0001c0003t0008g0069 a0001c0003t0008g0076 a0001c0003t0008g0227 a0001c0003t0012g0174 a0001c0003t0012g0189 a0001c0003t0012g0190 a0001c0003t0012g0232 a0001c0003t0013g0086 a0001c0003t0013g0240 a0001c0003t0015g0221 a0001c0003t0020g0168 a0001c0003t0020g0170 a0001c0003t0032g0166 a0001c0003t0033g0238 a0001c0004t0005g0016 a0001c0004t0005g0045 a0001c0004t0005g0048 a0001c0004t0005g0051 a0001c0004t0005g0113 a0001c0004t0005g0114 a0001c0004t0005g0118 a0001c0004t0005g0119 a0001c0004t0005g0125 a0001c0004t0005g0149 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0235 a0001c0004t0005g0253 a0001c0004t0005g0276 a0001c0004t0008g0157 a0001c0004t0008g0247 a0001c0004t0015g0082 a0001c0004t0016g0009 a0001c0004t0016g0217 a0001c0004t0019g0116 a0001c0004t0019g0131 a0001c0004t0031g0126 a0001c0004t0036g0012 a0001c0004t0037g0017 a0001c0005t0001g0002 a0001c0005t0001g0011 a0001c0005t0001g0074 a0001c0005t0001g0079 a0001c0005t0001g0140 a0001c0005t0001g0142 a0001c0005t0001g0159 a0001c0005t0001g0164 a0001c0005t0001g0191 a0001c0005t0001g0209 a0001c0005t0003g0141 a0001c0005t0004g0006 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0036 a0001c0005t0004g0037 a0001c0005t0004g0188 a0001c0005t0004g0194 a0001c0005t0009g0249 a0001c0005t0010g0135 a0001c0005t0010g0139 a0001c0005t0011g0177 a0001c0005t0034g0041 a0001c0007t0001g0010 a0001c0007t0001g0078 a0001c0007t0001g0081 a0001c0008t0008g0085 a0001c0008t0013g0084 a0001c0013t0002g0031 a0001c0016t0002g0136 a0002c0006t0010g0004 a0002c0006t0010g0005 a0002c0006t0010g0056 a0002c0006t0010g0183 a0002c0006t0010g0199 a0002c0009t0021g0265 a0002c0009t0021g0266 a0002c0015t0035g0248 a0003c0010t0015g0001 a0004c0011t0002g0148 a0005c0014t0008g0160	244	276	0.8841	-311	c.333 others(17): Show c.333+7185_333+7495del	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	3/16			chr7	TogoVar
SIGLECL1_chr19_51246080_51274330	51273136	TAAGAATT others(304): Show TAAGAATTACCACAACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(81): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03669.hp2 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18985.hp1 NA18990.hp1 NA19001.hp1 NA19010.hp2 NA19074.hp1 NA19082.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016	a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0028 others(44): Show a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0048 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0007g0034 a0001c0001t0007g0109 a0001c0001t0009g0044 a0001c0001t0010g0052 a0001c0001t0012g0047 a0001c0001t0014g0183 a0001c0001t0016g0182	84	396	0.2121	-311	c.45 others(11): Show c.4540_*4850del	SIGLECL1	ENSG00000179213.14	transcript	ENST00000601727.6	protein_coding		3807		chr19	TogoVar
SMU1_chr9_33036765_33081674	33050831	AAAAAATA others(304): Show AAAAAATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19066.hp1 NA19067.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(21): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0022 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0076 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0003t0036 a0001c0003t0071 a0001c0003t0072 a0001c0003t0073 a0001c0008t0005 a0002c0006t0002	a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0021 others(89): Show a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0005g0010 a0001c0001t0005g0020 a0001c0001t0005g0027 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0298 a0001c0001t0005g0300 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0314 a0001c0001t0005g0316 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0076 a0001c0001t0008g0097 a0001c0001t0008g0099 a0001c0001t0013g0040 a0001c0001t0013g0272 a0001c0001t0013g0273 a0001c0001t0013g0299 a0001c0001t0013g0307 a0001c0001t0022g0297 a0001c0001t0022g0310 a0001c0001t0022g0315 a0001c0001t0034g0086 a0001c0001t0034g0092 a0001c0001t0035g0057 a0001c0001t0038g0302 a0001c0001t0038g0303 a0001c0001t0066g0075 a0001c0001t0067g0051 a0001c0001t0069g0056 a0001c0001t0076g0283 a0001c0001t0081g0101 a0001c0001t0082g0306 a0001c0001t0083g0309 a0001c0001t0084g0284 a0001c0001t0085g0317 a0001c0001t0086g0301 a0001c0003t0036g0275 a0001c0003t0036g0276 a0001c0003t0071g0277 a0001c0003t0072g0279 a0001c0003t0073g0278 a0001c0008t0005g0313 a0002c0006t0002g0250	115	418	0.2751	-311	c.129 others(19): Show c.1290+1981_1290+2291del	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SMYD3_chr1_245744347_246512279	246389255	GGGACCTC others(304): Show GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCA CCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCAT TCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTA GAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGG GACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAG TCAGTTTCTAGA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	150	0.0067	-311	c.165 others(19): Show c.165-34472_165-34162del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNX25_chr4_185204598_185368966	185234386	TAAAAAGT others(304): Show TAAAAAGTTTAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAA AAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(188): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0012 a0013	a0001c0001 a0001c0003 a0001c0006 others(12): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0014 a0002c0002 a0003c0004 a0003c0007 a0005c0008 a0006c0019 a0007c0018 a0008c0017 a0011c0013 a0012c0012 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0001 a0001c0006t0001 a0001c0009t0001 a0001c0014t0001 a0002c0002t0001 a0002c0002t0004 a0003c0004t0001 a0003c0007t0001 a0005c0008t0001 a0006c0019t0005 a0007c0018t0001 a0008c0017t0001 a0011c0013t0001 a0012c0012t0001 a0013c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(186): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0154 a0001c0001t0002g0165 a0001c0001t0003g0096 a0001c0001t0006g0159 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0097 a0001c0003t0001g0111 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0151 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0184 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0009t0001g0233 a0001c0014t0001g0066 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0004g0258 a0003c0004t0001g0214 a0003c0004t0001g0249 a0003c0007t0001g0077 a0003c0007t0001g0189 a0005c0008t0001g0014 a0005c0008t0001g0015 a0006c0019t0005g0267 a0007c0018t0001g0068 a0008c0017t0001g0003 a0011c0013t0001g0131 a0012c0012t0001g0130 a0013c0011t0001g0115	191	276	0.6920	-311	c.430 others(19): Show c.430-12893_430-12583del	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
ST7_chr7_116948501_117235176	117201949	GCTCGAAG others(304): Show GCTCGAAGCTATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGA CGCCCAGGCTGGAGTGCAGTGGCGGGATCTTGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTAAGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(124): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0002t0001g0044	127	188	0.6755	-311	c.125 others(19): Show c.1255-7823_1255-7513del	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266643	TGCCGGGC others(304): Show TGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCAG AGACGCTCCTCACATCCCAGACGGGGCGACAGGGCAGAGGCGCTCCCCAC ATGTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGG GATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCC GGGAAGAGGCGCTCCTCACTTTCTAGATGGGATGGCGGCTGGGCAGAGAC GCTCCTCACTTTCCAAACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGATGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0186 a0001c0001t0018g0186	1	318	0.0031	-311	c.12 others(13): Show c.12444_*12754del	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4248		chr7	TogoVar
STK3_chr8_98449633_98830688	98826651	ACTTTTAA others(304): Show ACTTTTAACCTTAAATTCCATATATACCTTTCACATAACAATATACAGCT GCTACATGAGTTTACTTGTTTTTGTCAGAAATTGTCAAGATGGGCCGGGC GCGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCCAAGGCGGGCG GATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAC CTCGTCTCTACTAAAAATACAAAAGTTAGCCGGGCCTGGTGATGCGCCTG TACTCCCAGCTGCTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGG AGGCAGAGGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02145.hp1 others(14): Show HG00140.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0123 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0002g0010 a0001c0001t0002g0048 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168	17	170	0.1000	-311	c.-14 others(11): Show c.-1422_-1112del	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		964		chr8	TogoVar
TCF3_chr19_1604292_1657615	1628316	GCTCACAG others(304): Show GCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGA TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0272 a0001c0002t0002g0272	1	352	0.0028	-311	c.299 others(16): Show c.299-1201_299-891del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL1_chr4_165868237_166109457	165974126	ACCTCATC others(304): Show ACCTCATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTCATA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp1 HG02055.hp2 others(29): Show HG01123.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0009 others(14): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0002c0002 a0002c0013 a0002c0019 a0002c0028 a0003c0004 a0003c0008 a0003c0018 a0004c0006	a0001c0001t0002 a0001c0001t0015 a0001c0001t0050 others(24): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0050 a0001c0001t0058 a0001c0001t0067 a0001c0003t0055 a0001c0009t0026 a0001c0010t0045 a0001c0010t0048 a0001c0011t0026 a0001c0012t0015 a0001c0014t0025 a0001c0014t0037 a0001c0015t0056 a0001c0016t0009 a0002c0002t0008 a0002c0002t0024 a0002c0002t0042 a0002c0013t0027 a0002c0019t0024 a0002c0028t0071 a0003c0004t0014 a0003c0004t0018 a0003c0004t0023 a0003c0008t0017 a0003c0018t0019 a0004c0006t0022	a0001c0001t0002g0136 a0001c0001t0015g0053 a0001c0001t0050g0135 others(29): Show a0001c0001t0002g0136 a0001c0001t0015g0053 a0001c0001t0050g0135 a0001c0001t0058g0083 a0001c0001t0067g0068 a0001c0003t0055g0185 a0001c0009t0026g0001 a0001c0010t0045g0012 a0001c0010t0048g0051 a0001c0011t0026g0009 a0001c0012t0015g0013 a0001c0012t0015g0016 a0001c0014t0025g0010 a0001c0014t0037g0008 a0001c0015t0056g0073 a0001c0016t0009g0243 a0002c0002t0008g0019 a0002c0002t0024g0193 a0002c0002t0042g0020 a0002c0013t0027g0007 a0002c0013t0027g0011 a0002c0019t0024g0018 a0002c0028t0071g0006 a0003c0004t0014g0027 a0003c0004t0018g0024 a0003c0004t0018g0030 a0003c0004t0018g0148 a0003c0004t0023g0144 a0003c0008t0017g0140 a0003c0018t0019g0022 a0004c0006t0022g0025 a0004c0006t0022g0026	32	250	0.1280	-311	c.170 others(19): Show c.170-15244_170-14934del	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM132D_chr12_129066726_129909025	129088641	GGGATGTC others(304): Show GGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATG ACCGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCAT GACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTC CATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCC TCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCTATGACCGGGTGTC CTCCCTGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTG TCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG03041.hp1 others(3): Show HG01433.hp2 HG02451.hp1 HG03041.hp1 HG03195.hp1 HG03669.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0006c0015t0024	a0001c0001t0001g0008 a0001c0001t0004g0070 a0001c0001t0007g0014 others(3): Show a0001c0001t0001g0008 a0001c0001t0004g0070 a0001c0001t0007g0014 a0001c0001t0010g0048 a0001c0002t0001g0030 a0006c0015t0024g0087	6	94	0.0638	-311	c.144 others(19): Show c.1444-4250_1444-3940del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TNK2_chr3_195858364_195913551	195874782	GCTCCGAG others(304): Show GCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCG AGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCAC AAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAA GCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCC CTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGG GATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGG CGCCCACGCACA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	372	0.0027	-311	c.125 others(19): Show c.1257-2623_1257-2313del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TPCN2_chr11_69043932_69095597	69068885	GCACTGGG others(304): Show GCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGC AGGACCGTCTGAGTCCTAGGAAGTTACCGCACTGGGAGCAGGACTGTCTG AGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCACAGG GGGAGCAGGACTATCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC TGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCC TAGCAAGTGACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 HG01517.hp2 others(1): Show HG01243.hp1 HG01516.hp2 HG01517.hp2 HG02717.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0002 a0004c0006t0009 a0003c0003t0002 a0004c0006t0009	a0003c0003t0002g0013 a0004c0006t0009g0192 a0003c0003t0002g0013 a0004c0006t0009g0192	4	404	0.0099	-311	c.829 others(17): Show c.829+1283_830-1232del	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRPM4_chr19_49152792_49216836	49167114	CTCTCTCT others(304): Show CTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCGCCATCTCT CTGGGTCTCTGTCCCATGTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTC TCTGTCCCTCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTC CCTCTCTCTCTGGGTCTCTGTCCCCGTCTCTCCGGGTCTCTGTTTCCCCT TTACTCTGGGTTTCTGTCCCCATCTCTCTGGGTCTCTGTCCCTCTCTCTC TGGGTCTCTGTCCCCGTCTCTCCGGGTCTCTGTTTCCCCTTTACTCTGGG TTTCTGTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02647.hp2 others(1): Show HG02055.hp1 HG02630.hp2 HG02647.hp2 HG03041.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0040 a0004c0006t0001g0041 a0004c0006t0001g0220 others(1): Show a0004c0006t0001g0040 a0004c0006t0001g0041 a0004c0006t0001g0220 a0004c0006t0001g0285	4	312	0.0128	-311	c.268 others(15): Show c.268-738_268-428del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142283335	GGGGCCAG others(304): Show GGGGCCAGTGTCTGTCAATGAGCGGAGGTGGGGCCAGTGTCTGTCAATGA GCAGAGGCGGGGTTAGTGTCTATCAATGAGCAGAGGCGGGGTTAGTGTCT GTCAACGAGCAGAGGCAGGGACAGTGTCAATGAACAGAGGCGGGGCCAGT GTCTGTCAATGAGCGGAGGCGGGACCAGTGTCTGTCAATGAGCAGAGGCG GGGCCAGTGTCTGTCAATGAGCAGAGGCGGAGTTAGTGTCTGTCAATGAG CAGAGGCGGGGTTAGTGTCTGTCAACGAGCAGAGGCAGGGACAGTGTCAA TGAACAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0131 a0004c0004t0001g0131	1	238	0.0042	-311	c.136 others(18): Show c.1363+767_1363+1077del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	11/13			chr8	TogoVar
TTC23_chr15_99131323_99254581	99146938	GGAGTCTC others(304): Show GGAGTCTCGCTCTGTTTCCCAGGCTGGAGTGCAGCGGTGTGGTCACGGCT CACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTC CCAAGTAGCTGAGATTACAGGCACACGCCACCACACCTGGCTAATTTTTG TATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTAGTCCTGAA CTCTTGACAGGTGGTCCACCCACCTCGGCCTCTCAAAGTGTTGGGATTAT AGGTGTGAGCCACAGCGCTGGGCCTCCAAATTCATTCCTTTTTTTTTTTT TTTTTTGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02109.hp2 others(3): Show HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02922.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0010 a0001c0004t0003g0153 a0001c0004t0003g0154 others(3): Show a0001c0001t0003g0010 a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0156 a0001c0004t0003g0157	6	368	0.0163	-311	c.114 others(19): Show c.1144-7850_1144-7540del	TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	12/13			chr15	TogoVar
TTC7B_chr14_90519564_90821430	90520679	ACAGGGCA others(304): Show ACAGGGCAGCTACTCTCAGGAGGGTTATCTTTTCCCTTGACACCAGGACC CACCAAGTCAAGGGGTACTTCCCAGGCTTCCCCAGTTGGGTCCAGCCTGG CAGGTGGGGAGGGGATGGTGCTGAGTGAGAGAGAAGGAAGGTGAAGGGAG TCAGAATCTCCTAGAGACAGTCCCAGGCTCCTTGCCCCACCCTCACCTCC TTCCTTGTCTGAGCAGATCTTTCAGGCTTCTCTGAAGACAGGGGTCCACT GGGACCTCAAGCTTGGGCCCAGAGGTTGTCCAGTCCCAGCTAACACACTG GGAGCCTCCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02559.hp2 others(11): Show HG01884.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0011 a0001c0012	a0001c0002t0007 a0001c0002t0017 a0001c0002t0035 others(9): Show a0001c0002t0007 a0001c0002t0017 a0001c0002t0035 a0001c0002t0037 a0001c0003t0007 a0001c0004t0007 a0001c0004t0108 a0001c0006t0015 a0001c0009t0107 a0001c0011t0101 a0001c0012t0015 a0001c0012t0036	a0001c0002t0007g0035 a0001c0002t0007g0143 a0001c0002t0017g0085 others(11): Show a0001c0002t0007g0035 a0001c0002t0007g0143 a0001c0002t0017g0085 a0001c0002t0017g0086 a0001c0002t0035g0156 a0001c0002t0037g0142 a0001c0003t0007g0038 a0001c0004t0007g0152 a0001c0004t0108g0150 a0001c0006t0015g0155 a0001c0009t0107g0072 a0001c0011t0101g0140 a0001c0012t0015g0164 a0001c0012t0036g0165	14	200	0.0700	-311	c.20 others(13): Show c.20378_*20688del	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding		3884		chr14	TogoVar
ZNF425_chr7_149097784_149131324	149121083	TTTTTTTT others(304): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp1 others(21): Show HG00140.hp1 HG00544.hp2 HG00558.hp1 HG01346.hp2 HG01433.hp1 HG01943.hp2 HG01978.hp1 HG02080.hp2 HG02129.hp2 HG02486.hp1 HG02523.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA18942.hp2 NA18944.hp1 NA18949.hp2 NA18954.hp2 NA18985.hp2 NA19003.hp2 NA19043.hp1 NA19083.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0121 a0001c0002t0001g0043 a0001c0002t0001g0177 others(21): Show a0001c0001t0001g0121 a0001c0002t0001g0043 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199	24	320	0.0750	-311	c.19- others(15): Show c.19-3046_19-2736del	ZNF425	ENSG00000204947.9	transcript	ENST00000378061.7	protein_coding	1/3			chr7	TogoVar
ZNF511_chr10_133303914_133318161	133317260	ACCGCCCC others(304): Show ACCGCCCCCAGGACACAGAGATGGGAAGACCACACCCCCCCCCAGACACA CAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGAAAGACCACAC CCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCCCCCCAGGACA CAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACAGAGATGGAAA GACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGACCACACCCCC CACACACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGGA AAGACCACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	282	0.0036	-311	c.43 others(11): Show c.4395_*4705del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4100		chr10	TogoVar
ABR_chr17_998519_1184981	1088680	AGTTCAAG others(303): Show AGTTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTAGTAGCTGGGATCAC AGGTGCGTGTTATCATGCCCGGCTAATTTTTGTATTTTTAGTAGAAACGG GGTTTCACCATGTTGGCCAAGCTGGTCTTGAACTCCTGACCTCAGGTGAT CCGCCCACCTTGGCCTCCCAAAGTGTTGCTGGGATTATAAGCGTGAGCCA CTGTGCCCAGCCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGT CTGTCATCCAGGCTGGAGTGCAATGGTGTGGTTTTGGCTCACTGCAACCT CTGCCTCCCAG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	337	0.0030	-310	c.531 others(17): Show c.531+2675_531+2984del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	4/22			chr17	TogoVar
ABR_chr17_998519_1184981	1131354	CCCCCCTT others(303): Show CCCCCCTTTGCACACCAAATGCAGTGCCTGACACGCACACAGCTCCCCCC TTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTCTTTG CACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTTTGCACACC AAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTGCACACCAAATG CAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGC CTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGACA CGCACACAGCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01361.hp2 HG01496.hp1 others(5): Show HG01169.hp1 HG01361.hp2 HG01496.hp1 HG02683.hp2 HG02717.hp2 HG02976.hp1 HG03225.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0054	a0001c0001t0005g0282 a0001c0001t0006g0118 a0001c0001t0008g0024 others(5): Show a0001c0001t0005g0282 a0001c0001t0006g0118 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0010g0300 a0001c0001t0011g0167 a0001c0003t0054g0231	8	337	0.0237	-310	c.62- others(15): Show c.62-6297_62-5988del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1131384	ACACGCAC others(303): Show ACACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGC GCACAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCAC AGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCC CCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCT TTGCACACCAAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCAC ACCAAATGCAGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAAT GCAGTGCCTGC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	337	0.0030	-310	c.62- others(15): Show c.62-6327_62-6018del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288210	TCTGCTCC others(303): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	295	0.0034	-310	c.50 others(11): Show c.5044_*5353del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4180		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246864576	TAAAGACT others(303): Show TAAAGACTAGACTGACTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAG GAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(278): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0014 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0001c0001 a0001c0004 a0001c0007 others(38): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0001c0026 a0001c0037 a0001c0044 a0002c0002 a0002c0008 a0002c0013 a0003c0003 a0003c0020 a0003c0028 a0004c0005 a0004c0021 a0004c0042 a0005c0006 a0005c0027 a0006c0011 a0006c0039 a0008c0014 a0009c0034 a0009c0035 a0010c0015 a0011c0016 a0012c0017 a0014c0022 a0017c0040 a0018c0030 a0019c0033 a0020c0036 a0021c0032 a0022c0031 a0023c0038 a0024c0029 a0025c0041 a0026c0043 a0027c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0012 a0001c0004t0015 a0001c0004t0020 a0001c0007t0001 a0001c0010t0001 a0001c0012t0002 a0001c0018t0001 a0001c0019t0001 a0001c0026t0001 a0001c0037t0001 a0001c0044t0002 a0002c0002t0001 a0002c0002t0016 a0002c0008t0002 a0002c0013t0001 a0003c0003t0001 a0003c0003t0010 a0003c0020t0022 a0003c0028t0001 a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0004c0042t0006 a0005c0006t0001 a0005c0027t0001 a0006c0011t0007 a0006c0039t0007 a0008c0014t0001 a0009c0034t0002 a0009c0035t0002 a0010c0015t0001 a0011c0016t0001 a0012c0017t0013 a0014c0022t0001 a0017c0040t0002 a0018c0030t0005 a0019c0033t0001 a0020c0036t0002 a0021c0032t0001 a0022c0031t0001 a0023c0038t0001 a0024c0029t0001 a0025c0041t0001 a0026c0043t0001 a0027c0045t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 others(277): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0002g0034 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0011g0144 a0001c0001t0011g0338 a0001c0001t0014g0003 a0001c0001t0023g0374 a0001c0004t0001g0292 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0059 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0158 a0001c0004t0002g0161 a0001c0004t0002g0167 a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0298 a0001c0004t0002g0327 a0001c0004t0002g0340 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0004t0008g0326 a0001c0004t0012g0355 a0001c0004t0012g0359 a0001c0004t0015g0010 a0001c0004t0020g0147 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0277 a0001c0010t0001g0045 a0001c0010t0001g0186 a0001c0010t0001g0187 a0001c0012t0002g0268 a0001c0012t0002g0269 a0001c0018t0001g0352 a0001c0019t0001g0171 a0001c0026t0001g0223 a0001c0037t0001g0287 a0001c0044t0002g0149 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0109 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0254 a0002c0002t0016g0052 a0002c0008t0002g0068 a0002c0008t0002g0074 a0002c0008t0002g0127 a0002c0013t0001g0073 a0002c0013t0001g0123 a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0108 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0168 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0003t0001g0198 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0246 a0003c0003t0001g0255 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0301 a0003c0003t0001g0321 a0003c0003t0001g0341 a0003c0003t0010g0200 a0003c0003t0010g0201 a0003c0020t0022g0373 a0003c0028t0001g0241 a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0008 a0004c0005t0006g0044 a0004c0005t0006g0189 a0004c0005t0006g0199 a0004c0005t0006g0360 a0004c0021t0006g0276 a0004c0042t0006g0190 a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0214 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0197 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0008c0014t0001g0102 a0008c0014t0001g0141 a0009c0034t0002g0164 a0009c0035t0002g0165 a0010c0015t0001g0159 a0010c0015t0001g0160 a0011c0016t0001g0274 a0011c0016t0001g0275 a0012c0017t0013g0002 a0014c0022t0001g0056 a0017c0040t0002g0358 a0018c0030t0005g0009 a0019c0033t0001g0279 a0020c0036t0002g0166 a0021c0032t0001g0258 a0022c0031t0001g0137 a0023c0038t0001g0026 a0024c0029t0001g0351 a0025c0041t0001g0157 a0026c0043t0001g0170 a0027c0045t0001g0349	281	376	0.7473	-310	c.334 others(17): Show c.3348-770_3348-461del	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/35			chr1	TogoVar
AHRR_chr5_316714_443285	356476	CGAGTGGA others(303): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0217 a0003c0004t0028g0217	1	268	0.0037	-310	c.244 others(17): Show c.244+2706_244+3015del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356848	GGAGTGGA others(303): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	268	0.0037	-310	c.244 others(17): Show c.244+2999_244+3308del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358286	CTCAGTCA others(303): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(54): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00597.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18943.hp2 NA18947.hp2 NA18951.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19058.hp2 NA19060.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0011 a0013	a0001c0001 a0002c0002 a0002c0019 others(5): Show a0001c0001 a0002c0002 a0002c0019 a0003c0004 a0004c0003 a0005c0005 a0011c0021 a0013c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0040 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0002c0002t0001 a0002c0002t0006 a0002c0002t0044 a0002c0019t0001 a0003c0004t0004 a0003c0004t0012 a0004c0003t0001 a0004c0003t0013 a0004c0003t0018 a0005c0005t0008 a0011c0021t0019 a0013c0015t0005	a0001c0001t0002g0045 a0001c0001t0002g0074 a0001c0001t0002g0082 others(54): Show a0001c0001t0002g0045 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0087 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0005g0054 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0094 a0001c0001t0005g0112 a0001c0001t0006g0037 a0001c0001t0013g0148 a0001c0001t0013g0150 a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0016g0113 a0001c0001t0018g0086 a0001c0001t0018g0106 a0001c0001t0040g0051 a0001c0001t0048g0143 a0001c0001t0057g0251 a0001c0001t0058g0133 a0001c0001t0062g0038 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0135 a0002c0002t0001g0151 a0002c0002t0006g0218 a0002c0002t0044g0046 a0002c0019t0001g0134 a0003c0004t0004g0081 a0003c0004t0012g0110 a0004c0003t0001g0083 a0004c0003t0013g0149 a0004c0003t0018g0098 a0005c0005t0008g0108 a0011c0021t0019g0111 a0013c0015t0005g0115	57	268	0.2127	-310	c.244 others(17): Show c.244+4425_244+4734del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358337	GAGTGGAG others(303): Show GAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGG AAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGT CAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTC CACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTC AGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGA GTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAA GAGCGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0104 a0001c0009t0055g0104	1	268	0.0037	-310	c.244 others(17): Show c.244+4473_244+4782del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358720	CTCAGTCA others(303): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	268	0.0037	-310	c.244 others(17): Show c.244+4907_244+5216del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89415235	GGAGCCAC others(303): Show GGAGCCACTGCACCTGGCCAGCTATTCTTTTTTTTTTTTTTTTTTTTTGA GATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCG GTTTACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show HG02723.hp1 HG02896.hp2 HG03130.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0022 a0002c0002 a0010c0029 others(1): Show a0001c0022 a0002c0002 a0010c0029 a0010c0037	a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0010c0029t0001 a0010c0037t0001	a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 others(2): Show a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 a0010c0029t0001g0136 a0010c0037t0001g0141	5	310	0.0161	-310	c.-60 others(17): Show c.-60+2739_-60+3048del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD33B_chr5_10559070_10662816	10639113	AGTTGCGC others(303): Show AGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCG CGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGA CGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGAT GTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAG TTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG06807.hp2 HG02976.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0027 a0001c0001 a0005c0027	a0001c0001t0033 a0005c0027t0022 a0001c0001t0033 a0005c0027t0022	a0001c0001t0033g0103 a0005c0027t0022g0005 a0001c0001t0033g0103 a0005c0027t0022g0005	2	324	0.0062	-310	c.637 others(16): Show c.637+964_637+1273del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639195	CGGTGACG others(303): Show CGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATG TTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGT TGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCG GTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGG CGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0184 a0001c0001t0005g0184	1	324	0.0031	-310	c.637 others(17): Show c.637+1035_637+1344del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639206	AGTTGCGC others(303): Show AGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAG GCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGAT GTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAG TTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0038 a0001c0033t0038	a0001c0033t0038g0045 a0001c0033t0038g0045	1	324	0.0031	-310	c.637 others(17): Show c.637+1057_637+1366del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639237	GGTTGCGC others(303): Show GGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCG CGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGAT GTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAG TTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGC GGTGACGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp2 HG01167.hp1 others(14): Show HG00558.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG06807.hp1 NA18946.hp1 NA18954.hp1 NA18990.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0026 a0001c0001t0049 a0001c0001t0056 a0002c0010t0036	a0001c0001t0001g0157 a0001c0001t0001g0302 a0001c0001t0006g0012 others(14): Show a0001c0001t0001g0157 a0001c0001t0001g0302 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0113 a0001c0001t0006g0223 a0001c0001t0009g0201 a0001c0001t0013g0033 a0001c0001t0013g0196 a0001c0001t0013g0197 a0001c0001t0013g0218 a0001c0001t0026g0168 a0001c0001t0026g0205 a0001c0001t0049g0321 a0001c0001t0056g0152 a0002c0010t0036g0079	17	324	0.0525	-310	c.637 others(17): Show c.637+1159_637+1468del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639474	GGGTGACG others(303): Show GGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTGAC GTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGT TGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGG GTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGG CGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0102 a0001c0001t0065g0102	1	324	0.0031	-310	c.637 others(17): Show c.637+1348_637+1657del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
APOBEC3G_chr22_39072275_39092743	39073281	TGCCAACA others(303): Show TGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTACCCG GGTGTGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGAGATTGAGGCAG AAGAATTGCATGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACCACA CCACTGCACTCCAGCCTGTGGGACAGAGCAAGACTCTGTTCCAAAAAAAA AAAAAAAAAAAGAAAAGAAAAGGCCAGGCGTGGTGTCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATGG AGCCCAGTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00673.hp1 others(38): Show HG00140.hp1 HG00597.hp2 HG00673.hp1 HG01069.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp2 HG03017.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18945.hp2 NA18952.hp2 NA18965.hp2 NA18980.hp2 NA18993.hp1 NA18997.hp2 NA19011.hp1 NA19055.hp2 NA19070.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0019 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0002c0003t0001g0006	41	424	0.0967	-310	c.-40 others(11): Show c.-4080_-3771del	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		3993		chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)