Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
WDFY3_chr4_84664597_84971690	84947212	TATAAAAA others(352): Show TATAAAAATTCCTGCTAGGGGCCGGGCACAGTGACTTATGCCTGTAATCC TAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAG ACCATCCTGGCTAACATGGTGAAACCTCAGCTCTACTAAAAATACAAAAA ATTGGCCAGGTGTGGTGGCACGGGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCA AGATTGTGCCACTGCACTCCGGCCTGGGCAAAAGAGCGAGAATCCGTCTC AAAAATAATAATAATAATAATAATAATAATAAAAATAATAAATAAATAAA ATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0191 a0001c0001t0006g0191	1	242	0.0041	-359	c.-22 others(21): Show c.-225-15208_-225-14850del		WDFY3	ENSG00000163625.17	transcript	ENST00000295888.9	protein_coding	1/67						chr4	TogoVar
ZNF407_chr18_74592870_75070671	75032687	AGAATGGG others(352): Show AGAATGGGGGGAAGATAGTATTAGATAACTAAGAGTGCTCGGAATGGGGG GAAGATAGCATTAGATAACTAAGAGTGCTCAGAATAGGGGGAAGACAGTA TTAGATAACTAAGACTGCTCAGAATTGGGGGAAGACAGTATTAGATAACT AAGAGTGCTCGGAATGGGGGGAAGATAGTATTAGATAACTGAGAGTGCTC AGAATGGGGGGAAGATAGTATTAGATAACTAAGAGTGCTCGGAATGGGGG AAGATAGTATTAGTTAACTAAGAGTGCTCGGAATGGGGGGAAGATAGTAT TAGATAACTGAGAGTGCTCGGAATGGGGGGAAGATAGTATTAGATAACTA AGACTGCTCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp1 HG02451.hp2 others(2): Show HG01175.hp1 HG02145.hp1 HG02451.hp2 HG02896.hp1 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0004 a0004c0008 a0001c0003 a0002c0004 a0004c0008	a0001c0003t0005 a0002c0004t0005 a0004c0008t0005 a0001c0003t0005 a0002c0004t0005 a0004c0008t0005	a0001c0003t0005g0025 a0001c0003t0005g0028 a0002c0004t0005g0040 others(2): Show a0001c0003t0005g0025 a0001c0003t0005g0028 a0002c0004t0005g0040 a0002c0004t0005g0048 a0004c0008t0005g0015	5	92	0.0544	-359	c.542 others(21): Show c.5429-30338_5429-29980del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF98_chr19_22386019_22427346	22407644	GGAGGTTG others(352): Show GGAGGTTGCAGTGAGCCGAGATAATGCCACTATACTCCAACCTGGATGAC AGAGTGAGACTCTGTCTCAAAAAAATAAAAATAAAAGCAAAAACAAAACA AAACTGGCAAACCAAATCCAGCAGCACATCAAAAAACATCCACCAGGTCG GGCGCGGTAGCTCACGCCTGTAATCCGCCACTTTGGGAGGCCGAGGCGGG CAGATCACGTGAGAACAGGAGTTCGAGACCAGCCTGACCAACATGGAGAA ACCCCGTCTCTACTAAAAGTACAAAAAATTAGCCAGGCGTGGTGGTGCAT GCCTATAATCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATCACTTGAAC CCAGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	378	0.0027	-359	c.31- others(15): Show c.31-4491_31-4133del		ZNF98	ENSG00000197360.9	transcript	ENST00000357774.9	protein_coding	1/3						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128585	GCCCCCGC others(351): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGGAG CCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02922.hp2 HG03453.hp2 HG02300.hp2 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0008t0002g0253 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0008t0002g0253	3	406	0.0074	-358	c.806 others(15): Show c.806+147_806+504del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128672	AGCTCCGA others(351): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0391 a0002c0007t0004g0391	1	406	0.0025	-358	c.806 others(14): Show c.806+60_806+417del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
C19orf12_chr19_29693937_29720261	29719429	ATAATATA others(351): Show ATAATATATATATTTATATATATAATATACATATTTATATATATATTATA TATATTTATATATATATTATATTTATATATATTTATATATATTATATATA TATTATATATATAATATATAAATATATTTATATAATATAAATATATATAT TTATATAATATAAATATATATATTTATATATATATAAAATATATATAATA TATAAGTTTGGACAAAGATATAGAATTATATAATATATAAGTTTGGACAA AGATATAGAATTATATAATATATAATATAATATATCAGTATATATAATTG TACTATTATATAATTATATATAATTATATATATTTATATATATTAAATTA TATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02602.hp1 NA18953.hp2 others(2): Show HG01109.hp2 HG02602.hp1 NA18953.hp2 NA19000.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0047 a0001c0002t0001 a0001c0002t0047	a0001c0002t0001g0001 a0001c0002t0001g0070 a0001c0002t0001g0092 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0070 a0001c0002t0001g0092 a0001c0002t0047g0074	5	418	0.0120	-358	c.-46 others(11): Show c.-4673_-4316del		C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding					4169		chr19	TogoVar
CPN2_chr3_194334768_194356328	194347853	GCCCAGTT others(351): Show GCCCAGTTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCCT CTGCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCACCACCCC CGCCCAGTTCAGCCCACCCCATCCTCTGCCTAGTTCAGCCCACCCCATCC GCTGCCCAGTTCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCAT CCGCTGCCCAGTTCAGCCCACCCCATCCTCTGCCCAGTTCAGCCCACACC ACCCACTGCCCAGTTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACC CCATCCTCTGCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCA CCACCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(285): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013 a0014 a0017 a0019	a0001c0001 a0001c0020 a0002c0002 others(14): Show a0001c0001 a0001c0020 a0002c0002 a0002c0011 a0002c0016 a0003c0004 a0003c0005 a0003c0023 a0004c0003 a0004c0025 a0005c0006 a0006c0007 a0006c0022 a0013c0028 a0014c0027 a0017c0021 a0019c0017	a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 others(32): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0020t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0011t0003 a0002c0016t0005 a0003c0004t0002 a0003c0004t0004 a0003c0005t0002 a0003c0005t0006 a0003c0005t0010 a0003c0023t0004 a0004c0003t0002 a0004c0003t0011 a0004c0025t0018 a0005c0006t0001 a0005c0006t0003 a0006c0007t0001 a0006c0022t0001 a0013c0028t0003 a0014c0027t0003 a0017c0021t0001 a0019c0017t0013	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0014g0051 a0001c0001t0025g0165 a0001c0001t0027g0178 a0001c0001t0028g0162 a0001c0020t0001g0177 a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0031 a0002c0002t0003g0039 a0002c0002t0003g0068 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0106 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0161 a0002c0002t0003g0164 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0179 a0002c0002t0003g0209 a0002c0002t0005g0018 a0002c0002t0005g0048 a0002c0002t0005g0149 a0002c0002t0005g0151 a0002c0002t0005g0169 a0002c0002t0007g0011 a0002c0002t0009g0025 a0002c0002t0009g0168 a0002c0002t0013g0174 a0002c0002t0017g0061 a0002c0002t0021g0153 a0002c0002t0022g0211 a0002c0002t0023g0090 a0002c0002t0024g0172 a0002c0011t0003g0040 a0002c0016t0005g0148 a0003c0004t0002g0036 a0003c0004t0002g0134 a0003c0004t0002g0152 a0003c0004t0002g0167 a0003c0004t0004g0009 a0003c0004t0004g0010 a0003c0004t0004g0013 a0003c0004t0004g0019 a0003c0004t0004g0035 a0003c0004t0004g0047 a0003c0004t0004g0069 a0003c0004t0004g0075 a0003c0004t0004g0083 a0003c0004t0004g0091 a0003c0004t0004g0131 a0003c0004t0004g0132 a0003c0004t0004g0135 a0003c0004t0004g0139 a0003c0004t0004g0195 a0003c0004t0004g0196 a0003c0004t0004g0205 a0003c0005t0002g0073 a0003c0005t0006g0092 a0003c0005t0010g0024 a0003c0023t0004g0067 a0004c0003t0002g0030 a0004c0003t0002g0053 a0004c0003t0002g0054 a0004c0003t0002g0059 a0004c0003t0002g0138 a0004c0003t0002g0150 a0004c0003t0002g0156 a0004c0003t0002g0163 a0004c0003t0002g0173 a0004c0003t0002g0194 a0004c0003t0011g0052 a0004c0025t0018g0095 a0005c0006t0001g0070 a0005c0006t0001g0136 a0005c0006t0001g0154 a0005c0006t0003g0142 a0006c0007t0001g0133 a0006c0007t0001g0146 a0006c0022t0001g0145 a0013c0028t0003g0089 a0014c0027t0003g0210 a0017c0021t0001g0166 a0019c0017t0013g0088	288	440	0.6546	-358	c.-4+ others(15): Show c.-4+3031_-4+3388del		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1						chr3	TogoVar
DCC_chr18_52335197_53540899	53086169	TCTTCTCT others(351): Show TCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTT CTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCT TTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0011 a0001c0003t0008g0011	1	114	0.0088	-358	c.126 others(21): Show c.1261+20009_1261+20366del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX51_chr12_132131594_132149319	132148961	CTACCACA others(351): Show CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCAC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-358	c.-50 others(11): Show c.-5023_-4666del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4643		chr12	TogoVar
DPH7_chr9_137549444_137583925	137566361	GTGACTCT others(351): Show GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGT GACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGC TCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCT GTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGT GACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGC TCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	340	0.0029	-358	c.641 others(17): Show c.641-1565_641-1208del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566572	ACTCTGTC others(351): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0159 a0001c0001t0001g0065 a0001c0001t0001g0159	2	340	0.0059	-358	c.641 others(17): Show c.641-1776_641-1419del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567570	TGGGTGAC others(351): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	340	0.0029	-358	c.641 others(17): Show c.641-2774_641-2417del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567600	TGGGTGAC others(351): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTG TCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00609.hp1 others(9): Show HG00099.hp1 HG00323.hp1 HG00609.hp1 HG01255.hp1 HG01517.hp1 HG02071.hp1 HG03688.hp1 HG03710.hp1 NA18953.hp1 NA18999.hp1 NA19004.hp1 NA19066.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0139 a0001c0001t0002g0003 a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0304 a0001c0001t0007g0231 a0004c0004t0001g0137 a0004c0004t0001g0209	12	340	0.0353	-358	c.641 others(17): Show c.641-2804_641-2447del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
ERICH1_chr8_659200_736224	675999	CCCCCCCG others(351): Show CCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	378	0.0027	-358	c.305 others(17): Show c.305-2310_305-1953del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
F7_chr13_113100791_113125685	113108158	GGCGTGGG others(351): Show GGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGG GAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCG GGGGCGTGGGTGTCCCGGGGGTTGTGGGTGTCCCGGGAGTGTGGGTGTTC CGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTC CCGGGAGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTGTGGGTGT CCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTG TTCCGGAGGCGAGGGTGTCCCAGGAGCGTGGGTGTCCCGGAGGCGAGGGT GTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0201 a0001c0001t0001g0202	2	400	0.0050	-358	c.64+ others(15): Show c.64+2270_65-2158del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FAT3_chr11_92219818_92901473	92588636	ACTTGGTG others(351): Show ACTTGGTGCAGACCATTCATCAGATTGGATGAGAACAAAATCAACCATTC TTCTGTTAGACATCAGCCAGATGGGTTTGGGTGGAGAGAAGGTAGCCAAA GATCTACAAAAAAGCAAATAGTATGTGACACATTTCCTACAAAATATGCT TATCTATAGCCAGTCCACATTCTGAATTTAGATGGGAAGGTGAATTGCAG CCAAGCCTCCCTCCAACAGTTTGGGGGAAGATTTCTCTTAGGGAATTAAT GAGGAATTATATTAATTAGGGTAAAAATTAAGCTGTCGTAACAAAGACAC TCCCAAAATGCAGCGGCATAATGAAGACAGACAGTTTATTTCTCATTAAT GTGATAGGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02080.hp2 HG02615.hp2 others(5): Show HG00741.hp1 HG02080.hp2 HG02615.hp2 HG02723.hp1 HG02818.hp1 HG03209.hp1 HG03516.hp2 NA18940.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0020	a0001c0014 a0003c0011 a0004c0012 others(2): Show a0001c0014 a0003c0011 a0004c0012 a0005c0004 a0020c0016	a0001c0014t0036 a0003c0011t0005 a0004c0012t0004 others(3): Show a0001c0014t0036 a0003c0011t0005 a0004c0012t0004 a0005c0004t0006 a0005c0004t0042 a0020c0016t0031	a0001c0014t0036g0113 a0003c0011t0005g0053 a0004c0012t0004g0044 others(5): Show a0001c0014t0036g0113 a0003c0011t0005g0053 a0004c0012t0004g0044 a0005c0004t0006g0060 a0005c0004t0006g0087 a0005c0004t0006g0111 a0005c0004t0042g0116 a0020c0016t0031g0036	8	118	0.0678	-358	c.360 others(21): Show c.3607+63691_3607+64048del		FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241807292	ACCTTCCC others(351): Show ACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCC AGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	314	0.0032	-358	c.31 others(11): Show c.3127_*3484del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3006		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113330666	GGAAACCC others(351): Show GGAAACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGCATGGAAACCCGG GTGTGTGCATGGAAACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGCGT GGAAACTCAGGTGCGTGCATGGAGCCCAGGTGCGTGGATGGAAACCCAGG TGTGTGCATGGGAGCCCAGGTGTGTGGAAGGAAACCCAGGTGTGTGCATG GAAGCCCAGGTGTGTGCATGGAAACCCGGGTGTGTGCATGGGAGCCCGGG TGTGTGCATGGGAGCCCAGGTGTGTGCATGGAAAACCAGGTGTGTGCATG GGAGCCCAGTGTGTGCATGGGAGCCCAGGCGTGTGCATGGAAAGCCAGGT GTGTGCATT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	288	0.0035	-358	c.563 others(17): Show c.563-4933_563-4576del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346562	AGGAGGAC others(351): Show AGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCT CTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGG GAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGA GCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCT GTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGG GAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGA GCGGACCTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	288	0.0035	-358	c.466 others(17): Show c.466-1961_466-1604del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
IPO7_chr11_9379652_9453127	9417925	CTGGTCTC others(351): Show CTGGTCTCAAACTTCTGAGCTCAGGTGATCCGCCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTATAGTCTAGTT TTCTAGAGATATAGGGGAATTTACAGATTACTGAATACGCTGTTTTGTTT TGTTTTGTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTG CAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCA ATTCCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGTCACC ATGCCTGGCTAACTTTTTTTATTTTTCATAGAGACAGGGTTTCACCATCT TGGCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	314	0.0032	-358	c.726 others(16): Show c.726+784_726+1141del		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
MINAR1_chr15_79427336_79477304	79438599	GTGGGTGG others(351): Show GTGGGTGGGGTGGGTAGTGAGTGGGGTGTGGATGGGGTGGGTAGTGAGGG TGTGGGTGTGGGAGCATAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAG TGGGTTGTGGATGGGGTGGGTGGTGAGTGTGTGGGGTGTGGATGGGGTGG GTAGTGAGTGTGTGGGTTGTGGATGGGGTGGGTAGTGAGTGTGTCGGGTA TGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGA GTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTCGGGTATGGGTGG GGTGGGTAGTGAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTG GGGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	390	0.0026	-358	c.-51 others(17): Show c.-51+6064_-51+6421del		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237544789	GGGACAGT others(351): Show GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGTGTGG GGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGT GAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTAT TGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATA GTTATGAGT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19011.hp2 HG03704.hp1 NA19011.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0042 a0001c0001 a0010c0042	a0001c0001t0001 a0010c0042t0002 a0001c0001t0001 a0010c0042t0002	a0001c0001t0001g0206 a0010c0042t0002g0045 a0001c0001t0001g0206 a0010c0042t0002g0045	2	286	0.0070	-358	c.154 others(19): Show c.1540-1814_1540-1457del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYH14_chr19_50198622_50315540	50240330	GCACTTTG others(351): Show GCACTTTGGGAGGCTGAGTTAGGAGAATCGCTTGAGCCGGGGAATTTGAG ACCAACTTGGGCAACATGCCAAGATCCCATCTGGACAAAACATTTTTTTA AATTAGCTGGGCATGGTGGTGAGCATCTGTAGTCCAGCTACTCAGAAGGC TGTGGTGAGAGGATCGCTTGAGCCCAGGAAGTTGAGGCTGCAGTAAGCTA TGATCACACCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCT GTCTCTTTAAAAAAAAATCTATGCTAAAATGAAAAAGGAAAATGGAAGCA CAGAAATTAAAAGCACTGCCTCCCAGGCCAGGCACAGTGGCTCATGCCTG TAATCCCAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0003 a0002c0045t0003	a0002c0045t0003g0004 a0002c0045t0003g0004	1	298	0.0034	-358	c.111 others(19): Show c.1115-3898_1115-3541del		MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	10/42					INFO_REALIGN_3_PRIME	chr19	TogoVar
RNF223_chr1_1065967_1079306	1076449	TGGGGACT others(351): Show TGGGGACTCCGTGGGGCAGGCTGAGGCTATGGTGACTCCGTGCAGGGCTG TGAGGCTACGGGGACTCCGTGGGGGGTGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03209.hp1 NA19240.hp1 HG02145.hp2 HG03209.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0015 a0002c0003t0009g0015	3	324	0.0093	-358	c.-28 others(11): Show c.-2801_-2444del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2144		chr1	TogoVar
SH3PXD2A_chr10_103589027_103860576	103825986	ATCTCCTG others(351): Show ATCTCCTGACCTCGTGATCGGCCCACCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGTGCACGGCCAATTATTTTATTTTTCAAACCTA AGAGGAGCTCCCAATATGAAAGTATTGTCAGCAAGTTTTCTCATAAAATG AGAAATCTTGTAAATTAAACAAATCACAAATTGGCCTGCTTTGCACATCC AGAGTTTCATGACCTCTAGCTAATAAAGATGCCCATGTTTGCTCAGGTCA CCATGTGTTGGGCTCCTGGCTGGGCATTTCAGGCACATCCATGCTATCAT CATCCCTATTCTCCAAGTGAGGATACTTGGGCTCAGAGAGGTTCGGTGAC TTGCCTAAG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0193 a0003c0007t0001g0193	1	250	0.0040	-358	c.73- others(17): Show c.73-24982_73-24625del		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14						chr10	TogoVar
TMEM44_chr3_194582678_194638419	194630077	CCTGCCTC others(351): Show CCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCC CCTGAAATAATACGCTGTCGTACCTGCTTCCCGAAGGGGCTGGCTGTTTC CATCGGCGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTACTGCCT CCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAA TAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTCCATCGGC GTCACTGATAGGGCCCCTGAAATGATACGCTGTCGTACCTGCCTCCCGAA GGGGCTGGCTGTTTCCGTCGGCATCACTGATAGGGCCCCTGAAATAATAC GCTGTCGTA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0056 a0001c0001t0024g0056	1	404	0.0025	-358	c.138 others(17): Show c.138-1926_138-1569del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TNK2_chr3_195858364_195913551	195874712	TCTCCCTC others(351): Show TCTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACG CACGCTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACT CCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGG CACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAG GAAGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG02056.hp2 others(11): Show HG00609.hp1 HG00609.hp2 HG02056.hp2 HG02135.hp1 NA18941.hp1 NA18959.hp1 NA18971.hp1 NA18979.hp2 NA18984.hp2 NA18999.hp1 NA19056.hp2 NA19068.hp2 NA19088.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0018 a0001c0001 a0001c0003 a0002c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0018t0001	a0001c0001t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0150 others(11): Show a0001c0001t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0169 a0001c0003t0001g0195 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0206 a0002c0018t0001g0147 a0002c0018t0001g0159	14	372	0.0376	-358	c.125 others(19): Show c.1257-2600_1257-2243del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15						chr3	TogoVar
ADARB2_chr10_1172313_1742525	1542133	TCACAGCC others(350): Show TCACAGCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAG CCGCCCAGACCACACTCAGATATAGTTCAGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCG CACTCAGATGTAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCA GACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCAGACTCA GTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAG ACCCTGGATCACAGCCGCCCAGACCGCACTCAGATGTAGTTCAGACCCTG GATCACAG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	-357	c.101 others(21): Show c.101-163330_101-162974del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
AGMO_chr7_15195317_15567015	15406574	ACACACAC others(350): Show ACACACACACACACACGTATATTCCATATAAGTACACATGTACACATGTG TGTATATATATGAATATACATATATATGTGTATATATATGGAATATACAT ATATATGTGTATATATATGGAATATACATATATATGTGTATATATATGTA TATACACACATACATATGAATATACATATATATGTATTCCATATGTGTAT ATATACACATATATACATATATGCGTGCATATGTACACATATATACCCAC GTATACACATATATGTATATGTATATGTGATCCTAAAATTGTTAGTGACA ACGGTGCCAGTTCAGGTCAGAAGACTCAAAAGGCCCCTTTGTTTGGAATA CACACGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG01517.hp2 HG00140.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0003g0150 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0003g0150	3	236	0.0127	-357	c.609 others(19): Show c.609+11627_609+11983del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12						chr7	TogoVar
ARHGAP39_chr8_144524179_144690846	144624631	TCACTGCA others(350): Show TCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCA CTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGC ACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAG CACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGA GCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGG AGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACG GAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCAC GGAGCACC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp2 HG02559.hp1 HG01081.hp1 HG01975.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0002 a0001c0002t0001 a0001c0016t0001 a0001c0001t0002 a0001c0002t0001 a0001c0016t0001	a0001c0001t0002g0138 a0001c0002t0001g0167 a0001c0016t0001g0091 a0001c0001t0002g0138 a0001c0002t0001g0167 a0001c0016t0001g0091	3	246	0.0122	-357	c.-81 others(19): Show c.-81-19293_-81-18937del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144625988	CGGCCCCG others(350): Show CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCC GGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTC CCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGT CCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTG TCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCT GTCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp1 HG02683.hp1 others(1): Show HG01361.hp2 HG02257.hp1 HG02683.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017	a0001c0001t0001 a0001c0002t0001 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0003 a0001c0017t0001	a0001c0001t0001g0184 a0001c0002t0001g0013 a0001c0007t0003g0078 others(1): Show a0001c0001t0001g0184 a0001c0002t0001g0013 a0001c0007t0003g0078 a0001c0017t0001g0064	4	246	0.0163	-357	c.-81 others(19): Show c.-81-20650_-81-20294del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
ATP2B2_chr3_10319023_10510586	10355791	CGGCCGGG others(350): Show CGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTTGTCCTTTCC TTTGTGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp2 others(46): Show HG00099.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02922.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18966.hp1 NA18969.hp1 NA18973.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19081.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0016 a0001c0025 a0001c0032 a0001c0033 a0001c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0036 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0002t0002 a0001c0003t0001 a0001c0003t0016 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0008 a0001c0016t0007 a0001c0016t0018 a0001c0025t0001 a0001c0032t0013 a0001c0033t0003 a0001c0036t0005	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0063 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0158 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0027 a0001c0001t0003g0012 a0001c0001t0003g0044 a0001c0001t0004g0228 a0001c0001t0014g0062 a0001c0001t0017g0035 a0001c0001t0017g0278 a0001c0001t0017g0279 a0001c0001t0020g0056 a0001c0001t0028g0160 a0001c0001t0036g0009 a0001c0001t0047g0277 a0001c0001t0048g0024 a0001c0001t0049g0175 a0001c0002t0002g0028 a0001c0002t0002g0082 a0001c0003t0001g0006 a0001c0003t0016g0129 a0001c0003t0037g0047 a0001c0004t0001g0050 a0001c0004t0001g0239 a0001c0004t0001g0258 a0001c0004t0002g0118 a0001c0006t0001g0088 a0001c0006t0001g0171 a0001c0006t0002g0169 a0001c0006t0002g0205 a0001c0006t0003g0004 a0001c0006t0003g0038 a0001c0006t0008g0068 a0001c0016t0007g0249 a0001c0016t0018g0217 a0001c0025t0001g0101 a0001c0032t0013g0150 a0001c0033t0003g0273 a0001c0036t0005g0252	49	290	0.1690	-357	c.213 others(19): Show c.2136+2543_2136+2899del		ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22						chr3	TogoVar
CFAP46_chr10_132803392_132947570	132935903	TCATCCAA others(350): Show TCATCCAAACACACTGTGATCTCCTCACTCCCCTCGGCACCCAAACACAC TGCGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATCTCCTCACT CCCCTCGGCACCCAAACACACTGTGATCTCCTCACTCCCCTCACATCCAA ACACACTGTGATCTCCTCACTCCCCTCGGCATCCAAACACACTGTGATCT CCTCACTCCCCTCGGCACCCAAACACACTGTGATATCCTCACTCCCCCCG GCCCCCAAATACACTGTGATCTCCTCACTCCCCTCAGCCCCCAAACACAC TGTGATCTCCTCACTCCCCTCGGCACCCAAACCCACTGCGATCTCCTCAC TCCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0012 a0012	a0012c0073 a0012c0073	a0012c0073t0002 a0012c0073t0002	a0012c0073t0002g0005 a0012c0073t0002g0005	1	246	0.0041	-357	c.755 others(16): Show c.755+701_756-1042del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57						chr10	TogoVar
CPN2_chr3_194334768_194356328	194347859	TTCATCCC others(350): Show TTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCCTCTGCCC AGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCACCACCCCCGCCCA GTTCAGCCCACCCCATCCTCTGCCTAGTTCAGCCCACCCCATCCGCTGCC CAGTTCAGCCCACCCCACCCTCTGCCCAGTTCAGCCCACCCCATCCGCTG CCCAGTTCAGCCCACCCCATCCTCTGCCCAGTTCAGCCCACACCACCCAC TGCCCAGTTCATCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCATCC TCTGCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCACCACCC CCACCCAG	T T	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0159 a0004c0003t0002g0159	1	440	0.0023	-357	c.-4+ others(15): Show c.-4+3026_-4+3382del		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1						chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3775131	GTGAGCTA others(350): Show GTGAGCTAGGCAGCTGTGGCTGTGAGCTAGGCAGCTGTGGCTGTGGGCTA GGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGACTAGGCAGCTG TGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTG AGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGC AGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGG CTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGC TAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGC TGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(114): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18953.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp2 NA19083.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0011 a0001c0001 a0001c0002 others(4): Show a0000c0011 a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0002c0004	a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 others(26): Show a0000c0011t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0025 a0001c0006t0010 a0001c0013t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0003t0017 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003	a0000c0011t0023g0046 a0001c0001t0001g0025 a0001c0001t0001g0026 others(114): Show a0000c0011t0023g0046 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0298 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0245 a0001c0001t0002g0307 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0275 a0001c0001t0004g0282 a0001c0001t0004g0300 a0001c0001t0005g0049 a0001c0001t0005g0059 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0005g0322 a0001c0001t0006g0116 a0001c0001t0006g0144 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0268 a0001c0001t0006g0286 a0001c0001t0006g0299 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0009g0060 a0001c0001t0009g0273 a0001c0001t0009g0277 a0001c0001t0009g0278 a0001c0001t0009g0290 a0001c0001t0012g0272 a0001c0001t0015g0074 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0163 a0001c0002t0001g0223 a0001c0002t0001g0230 a0001c0002t0001g0246 a0001c0002t0001g0296 a0001c0002t0002g0122 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0004g0016 a0001c0002t0004g0262 a0001c0002t0005g0264 a0001c0002t0005g0276 a0001c0002t0007g0130 a0001c0002t0007g0131 a0001c0002t0008g0170 a0001c0002t0008g0173 a0001c0002t0008g0174 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0014g0068 a0001c0002t0025g0164 a0001c0006t0010g0198 a0001c0013t0001g0226 a0002c0003t0001g0179 a0002c0003t0001g0204 a0002c0003t0001g0238 a0002c0003t0002g0217 a0002c0003t0003g0189 a0002c0003t0003g0191 a0002c0003t0003g0220 a0002c0003t0011g0236 a0002c0003t0017g0237 a0002c0004t0001g0187 a0002c0004t0002g0192 a0002c0004t0003g0181 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0193 a0002c0004t0003g0197 a0002c0004t0003g0202 a0002c0004t0003g0203	117	324	0.3611	-357	c.955 others(17): Show c.955-3661_955-3305del		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3775379	GGCTGTGG others(350): Show GGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGG GCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCA GCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGC TCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCT AGGCAGCTGTGGCTGTGGGCTAGGCACCTGTGGCTGTGGGCTAGGCAGCT GTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCT GAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGG CAGCTGTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(42): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01099.hp2 HG01346.hp1 HG01517.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02922.hp1 HG03490.hp2 HG03579.hp1 HG03669.hp1 HG04115.hp1 NA18522.hp2 NA18942.hp1 NA18948.hp2 NA18954.hp1 NA18960.hp2 NA18966.hp2 NA18969.hp2 NA18978.hp1 NA18983.hp1 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA19012.hp2 NA19057.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0022 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0003t0001 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0004c0007t0001 a0004c0007t0002	a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0147 others(42): Show a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0108 a0001c0001t0002g0157 a0001c0001t0003g0004 a0001c0001t0003g0100 a0001c0001t0003g0166 a0001c0001t0003g0317 a0001c0001t0004g0007 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0321 a0001c0001t0005g0054 a0001c0001t0005g0288 a0001c0001t0006g0251 a0001c0001t0007g0092 a0001c0001t0007g0312 a0001c0001t0012g0269 a0001c0001t0022g0073 a0001c0001t0026g0050 a0001c0002t0002g0071 a0001c0002t0003g0139 a0001c0002t0003g0155 a0001c0002t0004g0283 a0002c0003t0001g0213 a0002c0003t0001g0218 a0002c0003t0001g0239 a0002c0003t0004g0008 a0002c0004t0001g0190 a0002c0004t0002g0184 a0002c0004t0003g0183 a0002c0004t0003g0199 a0002c0004t0003g0207 a0002c0004t0003g0318 a0004c0007t0001g0082 a0004c0007t0002g0041	45	324	0.1389	-357	c.955 others(17): Show c.955-3223_955-2867del		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132148962	TACCACAC others(350): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01081.hp1 others(5): Show HG00642.hp2 HG01074.hp1 HG01081.hp1 HG02004.hp2 HG02293.hp2 HG02602.hp1 NA18959.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0078	8	334	0.0240	-357	c.-50 others(11): Show c.-5023_-4667del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4644		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016266	CTGTGTGT others(350): Show CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGG ACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0037 a0003c0005t0004g0037	1	40	0.0250	-357	c.73+ others(19): Show c.73+108309_73+108665del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC25_chr9_111626334_111659345	111641626	GGGGGGGT others(350): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG01257.hp2 others(27): Show HG01070.hp2 HG01099.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02717.hp2 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG04115.hp2 NA18982.hp2 NA18985.hp1 NA18989.hp2 NA19009.hp2 NA19030.hp2 NA19068.hp2 NA19072.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0003 a0001c0002t0003 a0002c0003t0003	a0001c0002t0003g0009 a0001c0002t0003g0012 a0001c0002t0003g0040 others(18): Show a0001c0002t0003g0009 a0001c0002t0003g0012 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0049 a0001c0002t0003g0056 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0003g0140 a0001c0002t0003g0153 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0002c0003t0003g0255 a0002c0003t0003g0256	30	412	0.0728	-357	c.337 others(17): Show c.337-5474_337-5118del		DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOC2B_chr17_137789_186650	140949	AGGGGGGC others(350): Show AGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCT GGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGG GACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG03453.hp1 HG01109.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0046 a0001c0001t0017g0047 a0001c0001t0017g0032 a0001c0001t0017g0046 a0001c0001t0017g0047	3	339	0.0089	-357	c.61 others(11): Show c.6135_*6491del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding					1839		chr17	TogoVar
F7_chr13_113100791_113125685	113107839	TGGGTGTC others(350): Show TGGGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTTCCGGAGGC GAGGGTATCCCAGAAGTGTGAGTGTCCCAGGGGCGTGGGTGTCCCGGGGG TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAG GTGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGG AGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGG AGGTGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCG GGAGTGTGGGTGTCCCAGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCC GGAGGCGA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	400	0.0025	-357	c.64+ others(15): Show c.64+1947_64+2303del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108152	CCCAGGGG others(350): Show CCCAGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTG TCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGT GTCCCGGGGGCGTGGGTGTCCCGGGGGTTGTGGGTGTCCCGGGAGTGTGG GTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAG GGTGTCCCGGGAGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTGT GGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTG TGGGTGTTCCGGAGGCGAGGGTGTCCCAGGAGCGTGGGTGTCCCGGAGGC GAGGGTGT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	400	0.0025	-357	c.64+ others(15): Show c.64+2250_65-2179del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108172	GGGAGTGT others(350): Show GGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTC CGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTC CCGGGGGTTGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTG TCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGT GTCCCGGGGGTGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGAGTGTGGG TGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGG GTGTCCCAGGAGCGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGCGTG GGTGTCCC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp2 HG01261.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0229 a0001c0001t0001g0197 a0001c0001t0001g0229	2	400	0.0050	-357	c.64+ others(15): Show c.64+2270_65-2159del		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FOXN3_chr14_89151177_89422233	89361776	CTCCAGCA others(350): Show CTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCAC CTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTC CAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCT CCACCACT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0010 a0001c0001t0034g0010	1	230	0.0044	-357	c.544 others(19): Show c.544-11325_544-10969del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362314	AGCACCAC others(350): Show AGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTC CTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCT CCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACC TCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACCACCAC CACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTCCACCA CCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCTCTACG ACCACCACCACCTCCACCACCATCTCCACCACCACCACCACCATCTCCAC CACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0051 a0001c0001t0075g0051	1	230	0.0044	-357	c.544 others(19): Show c.544-11863_544-11507del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
KRTAP10-4_chr21_44568729_44580371	44574003	CCAGCTCC others(350): Show CCAGCTCCTGCACGCCCTCGTGCTGCCAGCAGTCTAGCTGCCAGCTGGCT TGCTGTGCCTCCTCCCCCTGCCAGCAGGCCTGCTGCGTGCCCGTCTGCTG CAAGACTGTCTGCTGCAAGCCTGTGTGCTGTGTGCCCGTCTGCTGTGGGG ATTCTTCATGCTGCCAGCAGTCTAGCTGCCAGTCAGCTTGCTGCACCTCC TCCCCCTGCCAGCAGGCCTGCTGTGTGCCCATCTGCTGCAAGCCTGTCTG CTCTGGGATTTCCTCTTCGTGCTGCCAGCAGTCTAGCTGTGTGAGCTGTG TGTCCAGCCCCTGCTGCCAGGCGGTCTGTGAGCCCAGCCCCTGCCAATCA GGCTGCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01496.hp2 HG06807.hp1 HG01496.hp2 HG06807.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0008 a0018c0023t0008	a0018c0023t0008g0000 a0018c0023t0008g0000	2	476	0.0042	-357	c.290 others(7): Show c.290_646del	p.Leu others(12): Show p.Leu97_Gln215del	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding	1/1	320/1643	290/1206	97/401		INFO_REALIGN_3_PRIME	chr21	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(350): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	350	0.0029	-357	c.28 others(11): Show c.2807_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
MPPED1_chr22_43407014_43512848	43496184	GTGGTGGA others(350): Show GTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGG TGGTGGAGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGAG GTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGT GGTGGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAG ATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGGT GGTGGAGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	250	0.0040	-357	c.633 others(17): Show c.633-2044_633-1688del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
NKD2_chr5_1003802_1043943	1022863	CCCACCCG others(350): Show CCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCT CTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCG TCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCC GTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGT GGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0082	1	319	0.0031	-357	c.142 others(17): Show c.142-9288_142-8932del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9						chr5	TogoVar
PITPNA_chr17_1512718_1567792	1549484	TTTTTTGT others(350): Show TTTTTTGTATTTTTAGTAAAGACAGGGTTTCGCCATGTTAGACAGGATGG TCTCAATCTCCTGAGCTCATGATCTGCCCGCCTCAGCCTCCCAAAGTGCT GAGATTACAGTGGCGTGAGCCACCGTGCCTGGCCTAGAAAGATTTTTTAA AATTAAAATGAAAATGGTACATATATTCCTTTTCCTTTTTTTTGTTTGTT TTTGTTTTTTGAGATGGAGCCTTGCTCTGTCGCCAGGCTGGAGTGCAGTG GCACGACCTCAGCTCATTGCTTCCTCCATCTCCTGGGTTCCAGCAATCCT CCTTCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCATGCGCCACCACGC CCAGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp2 others(92): Show HG00099.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01167.hp2 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0191 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0007g0042 a0001c0001t0009g0046 a0001c0001t0009g0051 a0001c0001t0009g0068 a0001c0001t0009g0075 a0001c0001t0009g0083 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0010g0024 a0001c0001t0010g0025 a0001c0001t0020g0078 a0001c0004t0001g0090 a0001c0004t0001g0091	95	368	0.2582	-357	c.198 others(17): Show c.198-1454_198-1098del		PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding	3/11						chr17	TogoVar

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Search Results (Total: 10000 hits)