Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASAP1_chr8_130047104_130448674	130049863	CACATGGG others(283): Show CACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAG GGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACAT GGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGAGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	308	0.0033	-290	c.45 others(11): Show c.4578_*4867del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2240		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049991	TGGGGGGC others(283): Show TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAA CACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGG GGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGG GAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT GGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG06807.hp1 HG03041.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0243 a0001c0001t0001g0167 a0001c0001t0001g0243	2	308	0.0065	-290	c.44 others(11): Show c.4450_*4739del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2112		chr8	TogoVar
B9D2_chr19_41349417_41369149	41361788	AAAAAAAA others(283): Show AAAAAAAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTT GGAAGGCCTACGCAGGCGGATCACTTAAGGCCAGGAGTTCAAGACCAGCC TGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTG GGTATGGTAGCGGGTGCCTGTAGTCCCAGCCACTCGGGAGGCTGACATAG GAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTG CCACTGCACTCTAGCTTGGCTACAGAGTGAGACTCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03927.hp1 HG03669.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0058 a0001c0001t0001g0081	2	360	0.0056	-290	c.88+ others(15): Show c.88+1354_88+1643del	B9D2	ENSG00000123810.9	transcript	ENST00000243578.8	protein_coding	2/3			chr19	TogoVar
CACNG6_chr19_53986637_54017666	53990790	CCCCAGCC others(283): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CCAGCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCC CTCAGACCCAGAAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAG CCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02165.hp2 HG02027.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0339 a0001c0001t0002g0340 a0001c0001t0001g0339 a0001c0001t0002g0340	2	430	0.0047	-290	c.-20 others(11): Show c.-2087_-1798del	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		846		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53924947	TCCCAGGC others(283): Show TCCCAGGCTGGTGATTGGTGGTGTTGTCCGAGGTCTGGTATTGGTGGAGT TGCCCCAGGTCTGGTATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGA CTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGACTTGCCTAGGGCTGGTCATTGGTGGACTTGCCTAGGGCTGGTCATT GGTGGACTTGCCCCAGGTCTGGTCATTGGTGAAGTTGCCCCAGGTCTGGT CATTGGTGGACTTGCCCCAGGCTGGTCATTGGCGGACTTGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	364	0.0055	-290	c.424 others(17): Show c.424+9449_424+9738del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990790	CCCCAGCC others(283): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCCAACCCCTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CCAGCCCCTCCTCCTTCAGACCCAGGAGTTCAGGCCCCAGTCCCTCCTCC CTCAGACCCAGAAGTCCAGGCCCCAGTCCCTCCTCCCTCAGACTCAGGAG CCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0001 a0001c0001t0049g0001	1	394	0.0025	-290	c.79 others(11): Show c.7942_*8231del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		576		chr19	TogoVar
CCDC33_chr15_74231326_74341141	74267490	CCTCCTAG others(283): Show CCTCCTAGTGCTGAAGGGTAAGGGGTAGAATTCACTCTCTCATTGCTCAA GGACTTATGAAGCACCTACTATGTGCCAGGTAGTGAGCCAGAGATGAACA GAAGCATCACATTCCCCTCCCCACTGTGCATTCCAGACCCTGAAAGTGGT TGAGAGTAAAGAACAATGTGAAGCCAGACTGTCGGGGGTCCTAGACCAAG TTTGTTGCCTCCTAGCTGGATACCCATGGAAGCCACTTGGTCCCCAGGCC TCCATCCTCACTGGCAAAGCTGGCACAGTCGTTTTGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0103 a0001c0001t0002g0075 a0001c0001t0002g0103	2	288	0.0069	-290	c.429 others(15): Show c.429+707_430-559del	CCDC33	ENSG00000140481.15	transcript	ENST00000398814.8	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CCKAR_chr4_26476396_26495484	26492425	CTTCCTTC others(283): Show CTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTTTC TCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCTTT CTTTCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCC TTTCTTTCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCT TTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02280.hp1 HG02451.hp1 others(6): Show HG01346.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0003 a0001c0001t0003g0038 a0001c0001t0003g0105 others(5): Show a0001c0001t0002g0003 a0001c0001t0003g0038 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0104 a0001c0001t0006g0103	9	454	0.0198	-290	c.-24 others(11): Show c.-2448_-2159del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		1942		chr4	TogoVar
CDH4_chr20_61247261_61945617	61689803	TGGGACAG others(283): Show TGGGACAGTGGTTGGTGAGGTGATGTGGAATTGAGCTGGGACGGTGGTTG GTGAGGTGATGTGGTATAAGGCTGGGACAGTGGTTGGTGAGGTGATGTGG AATTGAGCTGGGACGGTGGTTGGTGAGGTGATGTGGAATCAGGCTGGGAC ACTGGTTGGTGAGGTGATGTGGAATCAGGCTGGGACGGTGGCTGGTGAGG TGATGTGGATTCGGGTGGGGACACTGGTTGGTGAGGTGATGTGGTCATCC GGCAGGGACGGTGAGTTGGTGAGGTGATGTGGATTCTGACA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp1 HG03516.hp1 others(1): Show HG01255.hp2 HG02145.hp1 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0004 a0001c0003 a0001c0007 a0002c0004	a0001c0003t0053 a0001c0007t0010 a0002c0004t0003 a0001c0003t0053 a0001c0007t0010 a0002c0004t0003	a0001c0003t0053g0074 a0001c0007t0010g0037 a0001c0007t0010g0044 others(1): Show a0001c0003t0053g0074 a0001c0007t0010g0037 a0001c0007t0010g0044 a0002c0004t0003g0034	4	106	0.0377	-290	c.170 others(19): Show c.170-53747_170-53458del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1979575	GGCTGCGC others(283): Show GGCTGCGCAGAACATGCGTGTGGTACTGAGCTGGGTGTGGGAAGGCATCA CGTGACGAGGCTGCGCAGAACACGTGTGTCGTGCTGAGCTGGGCGTGGGA AGGTGTCGCGTGACGAGGCTGCGCAGAACACGCATGTCATGCTGAGCTGG GTGTGGGAAGGCGTCACGTGACGAGGCTGTGCAGAACACGCGTGTGGTAC TGACCTGGGTGTGGGAAGGCGTCACATGACGAAGCTGCGCAGAACACGCG TGTGGTACTGACCTGGGTGTGGGAAGGCGTCACATGACGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(73): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp2 NA18973.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19064.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0015 a0016 a0017 a0020 a0024 a0025 a0026 a0030 a0031 a0032 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0063 a0064	a0001c0006 a0002c0004 a0002c0047 others(27): Show a0001c0006 a0002c0004 a0002c0047 a0003c0003 a0005c0016 a0006c0019 a0008c0073 a0010c0067 a0010c0069 a0011c0010 a0015c0017 a0016c0061 a0017c0030 a0020c0028 a0024c0072 a0025c0031 a0026c0063 a0026c0066 a0030c0043 a0031c0042 a0032c0041 a0048c0058 a0049c0068 a0050c0070 a0051c0071 a0052c0062 a0053c0064 a0054c0065 a0063c0040 a0064c0060	a0001c0006t0001 a0002c0004t0002 a0002c0047t0009 others(29): Show a0001c0006t0001 a0002c0004t0002 a0002c0047t0009 a0003c0003t0001 a0003c0003t0003 a0005c0016t0001 a0006c0019t0001 a0008c0073t0001 a0010c0067t0001 a0010c0069t0001 a0011c0010t0001 a0011c0010t0008 a0015c0017t0002 a0016c0061t0002 a0017c0030t0001 a0020c0028t0002 a0024c0072t0001 a0025c0031t0001 a0026c0063t0001 a0026c0066t0001 a0030c0043t0002 a0031c0042t0001 a0032c0041t0001 a0048c0058t0001 a0049c0068t0001 a0050c0070t0001 a0051c0071t0001 a0052c0062t0001 a0053c0064t0001 a0054c0065t0001 a0063c0040t0001 a0064c0060t0001	a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 others(73): Show a0001c0006t0001g0020 a0001c0006t0001g0057 a0001c0006t0001g0080 a0001c0006t0001g0094 a0001c0006t0001g0115 a0001c0006t0001g0160 a0001c0006t0001g0188 a0001c0006t0001g0243 a0001c0006t0001g0250 a0002c0004t0002g0058 a0002c0004t0002g0079 a0002c0004t0002g0146 a0002c0004t0002g0227 a0002c0004t0002g0245 a0002c0004t0002g0258 a0002c0004t0002g0260 a0002c0004t0002g0266 a0002c0047t0009g0271 a0003c0003t0001g0088 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0116 a0003c0003t0001g0166 a0003c0003t0001g0190 a0003c0003t0001g0192 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0203 a0003c0003t0001g0210 a0003c0003t0001g0221 a0003c0003t0001g0235 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0003g0053 a0005c0016t0001g0006 a0005c0016t0001g0155 a0005c0016t0001g0215 a0005c0016t0001g0233 a0006c0019t0001g0111 a0006c0019t0001g0122 a0006c0019t0001g0125 a0008c0073t0001g0242 a0010c0067t0001g0259 a0010c0069t0001g0071 a0011c0010t0001g0014 a0011c0010t0001g0222 a0011c0010t0001g0236 a0011c0010t0001g0262 a0011c0010t0008g0015 a0015c0017t0002g0026 a0015c0017t0002g0027 a0015c0017t0002g0073 a0015c0017t0002g0226 a0016c0061t0002g0198 a0017c0030t0001g0045 a0017c0030t0001g0154 a0020c0028t0002g0056 a0020c0028t0002g0249 a0024c0072t0001g0062 a0025c0031t0001g0005 a0026c0063t0001g0002 a0026c0066t0001g0219 a0030c0043t0002g0275 a0031c0042t0001g0272 a0032c0041t0001g0139 a0048c0058t0001g0223 a0049c0068t0001g0214 a0050c0070t0001g0093 a0051c0071t0001g0077 a0052c0062t0001g0246 a0053c0064t0001g0055 a0054c0065t0001g0253 a0063c0040t0001g0134 a0064c0060t0001g0021	76	278	0.2734	-290	c.500 others(17): Show c.500+5521_501-5378del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CLIC4_chr1_24740447_24849321	24799921	GGGGTCAG others(283): Show GGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCC AGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	344	0.0029	-290	c.182 others(17): Show c.182+2074_182+2363del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLPTM1L_chr5_1312752_1350099	1327926	CCATCCAG others(283): Show CCATCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCCTCCTCTACA GACACATTCCATCCAGCTCCTCCTCTACGGACACATTCCATCCAGCTCCT CCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTCCATC CAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACAC ATTCCATCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCT ACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	370	0.0027	-290	c.108 others(19): Show c.1080+2064_1081-2111del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1287192	TGCCCAGG others(283): Show TGCCCAGGCTGGAGTACACTGGTGTGATCTTGGCTCACTGCAACCTCCAC CTCCTGGGTTCAAGCGATTCTCCTATCTCAGCCTCCTGAGTAGCTGGGAT TACAGGTGCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCGTGA TCCACCCTCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACC GTGTCCGACCTTTATTTTTTGGGATGGAGTCTCGCTCTGTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0135 a0001c0002t0005g0135	1	159	0.0063	-290	c.219 others(17): Show c.219+1287_220-1023del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168317468	ATGTGTGT others(283): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03831.hp2 NA18972.hp1 HG02074.hp1 HG03831.hp2 NA18972.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0036 a0002c0002 a0003c0004 a0001c0036 a0002c0002 a0003c0004	a0001c0036t0002 a0002c0002t0004 a0003c0004t0004 a0001c0036t0002 a0002c0002t0004 a0003c0004t0004	a0001c0036t0002g0154 a0002c0002t0004g0153 a0003c0004t0004g0156 a0001c0036t0002g0154 a0002c0002t0004g0153 a0003c0004t0004g0156	3	476	0.0063	-290	c.246 others(17): Show c.246+1630_246+1919del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DIP2C_chr10_269201_694668	367893	CCACAGCC others(283): Show CCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCGCGGTTGCTC TCACTGCCGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGGAAGCCCGC GGTTGCTCTCACTGCTGCACAGCCCCAGGTGCCTCCGACGGGGGCCCGGG AAGCCCGCGGTTGCTCTCACTGCTGCACAGCCCCAGGTGCCTCCGACGGG GGCCCGGGAAGCCCGCGGTTGCTCTCACTGCTGCACAGCCCCAGGTGCCT CCGACGGGGGCCCGGGAAGCCCGCGGTTGCTCTCACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01081.hp1 others(12): Show HG00609.hp2 HG00673.hp1 HG01081.hp1 HG01099.hp2 HG02027.hp2 HG02071.hp2 HG02280.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG03453.hp1 NA18747.hp2 NA18970.hp1 NA19007.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0016 a0001c0019	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0009t0001 a0001c0009t0003 a0001c0016t0009 a0001c0019t0006	a0001c0001t0001g0013 a0001c0003t0002g0021 a0001c0003t0002g0032 others(12): Show a0001c0001t0001g0013 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0004t0001g0086 a0001c0009t0001g0007 a0001c0009t0003g0003 a0001c0016t0009g0073 a0001c0019t0006g0014	15	88	0.1705	-290	c.213 others(19): Show c.2131+1311_2132-1483del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	18/36			chr10	TogoVar
DOCK5_chr8_25179689_25420711	25216393	AATATGTG others(283): Show AATATGTGCATACAATATGTATATATGTATACAATATGTGCATACAATAT GTATATATGTATACAATATGTGCATACAATATGTATATATGTATACAATA TGTGCATACAATATGTATATATGTATACAATATGTGCATACAATATGTAT ATATGTATACAATATGTGCATACAATATGTATAGATGTATACAATATGTG CATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATAGAT GTATACAATATGTGTATACAATATGTATAGATGTATACAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0121 a0001c0003t0004g0121	1	210	0.0048	-290	c.44- others(17): Show c.44-27278_44-26989del	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566016	TGTCTGTG others(283): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp2 HG01952.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0279 a0001c0001t0002g0261 a0001c0001t0002g0279	2	340	0.0059	-290	c.641 others(16): Show c.641-1152_641-863del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(283): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0353 a0013c0026t0001g0353	1	404	0.0025	-290	c.197 others(17): Show c.1976+726_1977-499del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1319468	AGCGGTGG others(283): Show AGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(91): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18987.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0010 a0012 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0002c0004 a0002c0005 others(10): Show a0001c0001 a0002c0004 a0002c0005 a0004c0003 a0005c0007 a0005c0011 a0010c0022 a0012c0024 a0014c0019 a0015c0018 a0016c0017 a0017c0016 a0018c0015	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(14): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0002c0004t0002 a0002c0005t0002 a0004c0003t0001 a0005c0007t0001 a0005c0011t0001 a0010c0022t0002 a0012c0024t0002 a0014c0019t0001 a0015c0018t0001 a0016c0017t0001 a0017c0016t0001 a0018c0015t0001	a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 others(14): Show a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0019g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0004c0003t0001g0000 a0005c0007t0001g0000 a0005c0011t0001g0000 a0010c0022t0002g0000 a0012c0024t0002g0000 a0014c0019t0001g0000 a0015c0018t0001g0000 a0016c0017t0001g0000 a0017c0016t0001g0000 a0018c0015t0001g0000	94	406	0.2315	-290	c.55 others(11): Show c.5553_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4711		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805750	CTCCCCCC others(283): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18945.hp2 HG02071.hp2 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0185 a0002c0002t0002g0143 a0001c0001t0001g0185 a0002c0002t0002g0143	2	314	0.0064	-290	c.15 others(11): Show c.1585_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1464		chr2	TogoVar
GRIN1_chr9_137134154_137173756	137144785	GGTGGTAG others(283): Show GGTGGTAGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAA GTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGA GTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGG TCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGTGAGAGG AAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAG TGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0130 a0001c0006t0001g0130	1	298	0.0034	-290	c.394 others(15): Show c.394-939_394-650del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GTF2F2_chr13_45115510_45289893	45261676	TCTGACTG others(283): Show TCTGACTGCTTTAATATCATTTCCTTACAGTGCCTGAGCTCCACTGAGAA ACAAAATGCCCAAAAGGCAAGGAGCTAAAAAGAGAAGAAATAACATTATC TCAAAACTGTAATCTTCTCCTAAATAGAATAGTTCATATCATTGGTAGTT TATTTGTACAGTTAATTTTATTTGTAGTGTCAAGTTGTGAATATAGTATT AAGATTACCATTTCTGCACTGTTTAGTTTTAAAAAATTACCTCAGTGACC TTGGTTTTGTCCTAACTATAAGTTATTAATAACTTAATGGC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	210	0.0048	-290	c.487 others(17): Show c.487-5555_487-5266del	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
HDAC9_chr7_18490749_19007416	18786506	CTCTCTCT others(283): Show CTCTCTCTCATGTACTTTTTGCTCACATACACTTCCTGTGTCCCCTGTTT CTGTCACACCTCTTGGGTATGGCTGGCTGGCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTTCTTCCCTCCTTCTT TCCTCCCTTCCTCCCTTCCTTCCTTTTTGCTCACATATCCCTTTCTGTGT CCTCGGTTTCTGTTGCATGCGCCTCTTGAGTCTAGCTTTCTTTCCTTCCT TTTCTTTTTTCTCTCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp2 HG03041.hp2 others(1): Show HG02886.hp1 HG02897.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0001t0036 a0001c0003t0008 others(1): Show a0001c0001t0019 a0001c0001t0036 a0001c0003t0008 a0001c0003t0013	a0001c0001t0019g0114 a0001c0001t0036g0136 a0001c0003t0008g0146 others(1): Show a0001c0001t0019g0114 a0001c0001t0036g0136 a0001c0003t0008g0146 a0001c0003t0013g0045	4	156	0.0256	-290	c.221 others(19): Show c.2215-6837_2215-6548del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
INPP5E_chr9_136423619_136444845	136431433	CCCCCCAG others(283): Show CCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGG CCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACC TTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCA TCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTC CACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCG CCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 NA18941.hp1 HG01109.hp2 HG01192.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0155 a0001c0003t0003g0042 a0001c0003t0003g0165 a0001c0002t0002g0155 a0001c0003t0003g0042 a0001c0003t0003g0165	3	382	0.0079	-290	c.154 others(17): Show c.1549+101_1550-317del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(283): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(56): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp2 HG01891.hp1 HG01928.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02647.hp1 HG03041.hp2 HG03098.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18959.hp2 NA18968.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19012.hp1 NA19062.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0002 a0001c0007 a0001c0009 others(4): Show a0001c0002 a0001c0007 a0001c0009 a0001c0014 a0002c0003 a0003c0004 a0008c0018	a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 others(8): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0007t0001 a0001c0009t0002 a0001c0014t0003 a0002c0003t0001 a0003c0004t0004 a0008c0018t0001	a0001c0002t0003g0052 a0001c0002t0003g0069 a0001c0002t0003g0122 others(56): Show a0001c0002t0003g0052 a0001c0002t0003g0069 a0001c0002t0003g0122 a0001c0002t0003g0224 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0285 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0294 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0321 a0001c0002t0003g0322 a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0002t0003g0328 a0001c0002t0005g0011 a0001c0002t0005g0029 a0001c0002t0005g0226 a0001c0002t0005g0316 a0001c0002t0005g0318 a0001c0002t0005g0320 a0001c0002t0005g0325 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0343 a0001c0002t0005g0344 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0073 a0001c0002t0006g0074 a0001c0002t0006g0075 a0001c0002t0006g0076 a0001c0002t0006g0077 a0001c0002t0006g0229 a0001c0002t0006g0238 a0001c0002t0019g0036 a0001c0002t0020g0287 a0001c0007t0001g0101 a0001c0009t0002g0347 a0001c0014t0003g0284 a0001c0014t0003g0323 a0002c0003t0001g0051 a0002c0003t0001g0180 a0002c0003t0001g0203 a0002c0003t0001g0217 a0003c0004t0004g0338 a0008c0018t0001g0185	59	352	0.1676	-290	c.169 others(19): Show c.1693+6717_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789961	TCAGAACC others(283): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG03453.hp2 others(1): Show HG02723.hp2 HG03209.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0013 a0001c0009 a0001c0013	a0001c0009t0002 a0001c0013t0002 a0001c0013t0017 a0001c0009t0002 a0001c0013t0002 a0001c0013t0017	a0001c0009t0002g0319 a0001c0009t0002g0348 a0001c0013t0002g0237 others(1): Show a0001c0009t0002g0319 a0001c0009t0002g0348 a0001c0013t0002g0237 a0001c0013t0017g0302	4	352	0.0114	-290	c.169 others(19): Show c.1693+6137_1693+6426del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KCNG2_chr18_79792938_79905100	79865707	CCTGGGTG others(283): Show CCTGGGTGCTGAGAGGTCTGTGTTCTGAGGTCTGGGTGCTGAGGTCTGGG TGCTGAGAGGTCTGTGTGCTGAGAAGTCTGGGTGCTGAGAGGTCTGTGTG CTGAGAGGTCTGGGTGCTGAGAGGTCTGTATGCTGAGAGGACTGTGTGCT GAGAGGTCTGTGGGCTGAAGTCTGGGTGCTGAGAAGTCTGTGCTGAGAGG TCTGTGTGCTGAGAGATCTGGGTGCTGAGGTCTGGATGCTGAGAGGTCTG TGTGCTGAGAGGACTGTGTGCCGAGGTCTGGGTGCTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01346.hp1 HG01515.hp2 others(22): Show HG00280.hp2 HG01346.hp1 HG01515.hp2 HG01934.hp1 HG01978.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp2 HG02738.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG04184.hp2 NA18906.hp1 NA18966.hp2 NA18999.hp1 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0218 others(22): Show a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0218 a0001c0001t0001g0293 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0003t0001g0036 a0001c0003t0001g0072 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0180 a0001c0005t0001g0297	25	312	0.0801	-290	c.624 others(17): Show c.624+1436_624+1725del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPK8IP3_chr16_1701195_1775351	1728548	TTCCCATG others(283): Show TTCCCATGGCACAGGGCACACACAGCAGCCCCCCAGACGGCCTTCACAGA GCTGAGTGTTCTCCCATGGCACAGCACACACAGCAGCCCCCCAGACGGCC TTCACAGAGCTGAGTGTTCTCCCATGGTACAGGGCACAGCAGCCCCCCAG ACGGCCTTCACAGAGCTGAGTGTTCTCCCCTCGCACAACGCACGCAGCAG CCCCCCAGACGGCCTTCACAGAGCTGAGTGTTCTCCCATGGCACAGCGCA CACAGCAGCCCCCCAGACGGCTTTAACAGAGCTGAGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG03130.hp1 others(2): Show HG02486.hp1 HG02970.hp2 HG03130.hp1 HG03540.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0002 others(1): Show a0001c0004 a0001c0005 a0002c0002 a0002c0013	a0001c0004t0007 a0001c0005t0007 a0002c0002t0011 others(1): Show a0001c0004t0007 a0001c0005t0007 a0002c0002t0011 a0002c0013t0007	a0001c0004t0007g0012 a0001c0004t0007g0022 a0001c0005t0007g0023 others(2): Show a0001c0004t0007g0012 a0001c0004t0007g0022 a0001c0005t0007g0023 a0002c0002t0011g0021 a0002c0013t0007g0024	5	330	0.0152	-290	c.440 others(15): Show c.440-576_440-287del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
NEU4_chr2_241804193_241822413	241805750	CTCCCCCC others(283): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18945.hp2 HG02071.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0002t0001g0050 a0001c0001t0001g0012 a0001c0002t0001g0050	2	319	0.0063	-290	c.-35 others(11): Show c.-3527_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3442		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805789	CCCCTCAG others(283): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-290	c.-34 others(11): Show c.-3488_-3199del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3403		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805864	TCCCCCCT others(283): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	319	0.0031	-290	c.-34 others(11): Show c.-3413_-3124del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3328		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995328	AGTATGTA others(283): Show AGTATGTATACTATATACAGTATGTATACTGTATACTGTATATATATACA CAGTATGTATACTGTATACTGTATATATATACACAGTATGTATACTGTAT ACTGTATATATATACACAGTATGTATACTGACAGTATACATACTGTATAT ATACACAGTATGTATACTGACAGTATACATACTGTATATATATACAGTAT GTATACATATACAGTATGTATACTATATACAGTATGTATACTGTATATAT ATATACAGTATGTATACTGTATATATATACAGTATGTATAC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18957.hp2 NA18965.hp2 others(1): Show NA18747.hp2 NA18957.hp2 NA18965.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0002c0008 a0001c0004 a0002c0006 a0002c0008	a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 others(1): Show a0001c0004t0017 a0002c0006t0018 a0002c0008t0004 a0002c0008t0017	a0001c0004t0017g0003 a0002c0006t0018g0004 a0002c0008t0004g0132 others(1): Show a0001c0004t0017g0003 a0002c0006t0018g0004 a0002c0008t0004g0132 a0002c0008t0017g0005	4	362	0.0111	-290	c.-75 others(19): Show c.-75+17450_-75+17739del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKD2_chr5_1003802_1043943	1022704	GCTAGTGG others(283): Show GCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGG TGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAG CCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCT TCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTG CTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	319	0.0031	-290	c.142 others(17): Show c.142-9445_142-9156del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMF_chr9_137442570_137464334	137451105	ACACGTCT others(283): Show ACACGTCTCTTCCCCTTGATCTCCCGCGCCACACGCCTCTTCCCCTTGTT CTGCCCTCCACGCCTCTTCCCCTTGGTCTTCCCCACCACACGCCTCTTCC CCTTGGTCTCCCCCGCCACGTCTCTTCCCCTTGGTCTTCCTTGGCCACAC GCCTCTTCCCCTTGATCTCCCCACCATGCCTCTTCCCCTTGATCTCCCCC TCCACACGCCTCTTCCCCTTGATCTTCCCCTGCCCCTCGTCTCTTCCCCT TGATCTCCCCCGCCACGTCTCTTCCCCTTGATCTCCCCCGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(263): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001 a0001c0004t0006 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0154 a0001c0001t0005g0113 a0001c0001t0006g0031 a0001c0001t0006g0057 a0001c0001t0007g0072 a0001c0001t0008g0027 a0001c0001t0011g0036 a0001c0001t0012g0054 a0001c0001t0013g0060 a0001c0001t0014g0061 a0001c0001t0015g0097 a0001c0001t0016g0081 a0001c0001t0017g0150 a0001c0001t0021g0117 a0001c0001t0024g0098 a0001c0001t0025g0114 a0001c0001t0027g0102 a0001c0001t0028g0172 a0001c0002t0001g0028 a0001c0002t0001g0163 a0001c0004t0006g0058 a0001c0005t0001g0166	266	414	0.6425	-290	c.123 others(17): Show c.1236+970_1237-851del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NSUN4_chr1_46335807_46370018	46336997	TAAAAATC others(283): Show TAAAAATCACCAGCCTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCCGGGGGCGGAG CCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG03834.hp2 others(2): Show HG00544.hp2 HG02717.hp1 HG03834.hp2 NA18959.hp2 NA19240.hp2	a0004 a0007 a0009 a0004 a0007 a0009	a0004c0004 a0007c0007 a0009c0010 a0004c0004 a0007c0007 a0009c0010	a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 others(1): Show a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 a0009c0010t0053	a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 others(2): Show a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 a0007c0007t0027g0311 a0009c0010t0053g0029	5	388	0.0129	-290	c.-38 others(11): Show c.-3829_-3540del	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3809		chr1	TogoVar
NTN5_chr19_48656407_48678017	48669446	ATCACCAC others(283): Show ATCACCACCATGACCACCATCATCACCACCATCACCACCATCACCATCAC CACCACCACGACCATCATCACCACCACCACCATCACCACCACCATCACCA CCACCACCATCACCACCACCATCACCACCATCACCACCACGACCACCATC ACCACCACCACCATCATCACCACCATCACCACCACCAGTCATCACCATCA CCACCACCAACACCACCACCATCACCATCATCACCACCATCACCACCACC ATCATCACCATCACCACCATCACCACCACCACCACCATCAC	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	412	0.0024	-290	c.631 others(15): Show c.631+620_631+909del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31510659	TACATATG others(283): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0094 a0001c0002t0022g0094	1	244	0.0041	-290	c.894 others(17): Show c.894-7131_894-6842del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PGBD5_chr1_230309490_230431332	230395435	CCACTCCT others(283): Show CCACTCCTCCCCATCCCTGAGCTCCTCTCTCACTCCCTCCCTCCTCCCCT CCTCTCCTCACACTCCTTCCCATCCCTGAGCTTCTCTCTCATTCCCACCC TCCTCCCCTCCTCCTCACACTCCTCCCCATCCCAGCTCCCCTCTCATTCC CAACCCCCTCCCCTCCTCTCCTCATGCTCCTCCCCATCCCTGAGCTCCTC TCTCATTCCCACCCTCCTCCCCCTTCTCTCCTCACACTCCTCCCCATCCC TGAGCTCCTCTCATTCCCACCCTCCTCCCCTCCTCTCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01192.hp1 others(7): Show HG00741.hp1 HG01070.hp1 HG01192.hp1 HG01358.hp1 HG02738.hp2 HG03688.hp1 HG04115.hp1 HG04199.hp2 NA18998.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0065 a0001c0002t0001 a0001c0002t0016 others(2): Show a0001c0001t0065 a0001c0002t0001 a0001c0002t0016 a0001c0002t0047 a0002c0003t0021	a0001c0001t0065g0101 a0001c0002t0001g0136 a0001c0002t0016g0046 others(7): Show a0001c0001t0065g0101 a0001c0002t0001g0136 a0001c0002t0016g0046 a0001c0002t0016g0047 a0001c0002t0016g0048 a0001c0002t0016g0232 a0001c0002t0047g0005 a0002c0003t0021g0236 a0002c0003t0021g0238 a0002c0003t0021g0240	10	288	0.0347	-290	c.331 others(19): Show c.331+29873_331+30162del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PKNOX2_chr11_125159751_125438389	125183189	CGATGAAT others(283): Show CGATGAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGTGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(84): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01993.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp1 NA18964.hp1 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19057.hp1 NA19064.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0003t0004 a0001c0003t0005 a0001c0004t0009 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0042 others(84): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0140 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0132 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0222 a0001c0001t0004g0011 a0001c0001t0004g0055 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0188 a0001c0001t0004g0204 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0005g0008 a0001c0001t0005g0136 a0001c0001t0005g0177 a0001c0001t0006g0126 a0001c0001t0006g0128 a0001c0001t0006g0131 a0001c0001t0006g0148 a0001c0001t0006g0156 a0001c0001t0006g0176 a0001c0001t0007g0185 a0001c0001t0008g0157 a0001c0001t0011g0030 a0001c0001t0011g0220 a0001c0001t0012g0051 a0001c0001t0014g0198 a0001c0001t0017g0031 a0001c0003t0004g0125 a0001c0003t0005g0187 a0001c0004t0009g0146 a0002c0002t0002g0089 a0002c0002t0002g0115 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0200	87	222	0.3919	-290	c.-20 others(21): Show c.-201+18428_-201+18717del	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2122024	GGTAGTTA others(283): Show GGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGG TGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACG GTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGT GGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	286	0.0035	-290	c.335 others(19): Show c.335-13235_335-12946del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR12_chr19_49586182_49631439	49611632	AAAAAAAA others(283): Show AAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATAGCCGG GCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp1 others(2): Show HG02258.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0020 a0001c0009 a0001c0020	a0001c0009t0002 a0001c0020t0002 a0001c0009t0002 a0001c0020t0002	a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0146 others(2): Show a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0020t0002g0147 a0001c0020t0002g0148	5	322	0.0155	-290	c.477 others(19): Show c.4774-2891_4774-2602del	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSPH_chr7_56006064_56056444	56032393	GCTCACAC others(283): Show GCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGCGGGCGGATCAC GAGGTCAGATCAGGACCATCCTGGCTAACATGGCGAAACCACGTCTCTAC CAAAAATACAAAAAAAATTTAGCCAGGCATGCTACTGGGCACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCA GAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTTCAGCCTGGGTGACA GAGCGAGTCTCAAAAAAAAAAAAAAAGGCCGGGCATGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	392	0.0026	-290	c.-14 others(17): Show c.-145-629_-145-340del	PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	2/7			chr7	TogoVar
RRP12_chr10_97351701_97406340	97398063	TTTGAGAT others(283): Show TTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2	a0001 a0001	a0001c0011 a0001c0019 a0001c0011 a0001c0019	a0001c0011t0001 a0001c0019t0001 a0001c0011t0001 a0001c0019t0001	a0001c0011t0001g0204 a0001c0019t0001g0206 a0001c0019t0001g0207 a0001c0011t0001g0204 a0001c0019t0001g0206 a0001c0019t0001g0207	3	400	0.0075	-290	c.369 others(17): Show c.369+1952_370-1763del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RYR1_chr19_38428691_38592564	38540511	CAGTGTAA others(283): Show CAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATC ATATACTACAGTGTAATAAATCTCCAATCATATACTACAGTGTAATAAAC CTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTG TAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATA CTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCA ATCATATACTACAGTGTAATAAACCTCCAATCATATACTAA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0114 a0003c0006t0001g0114	1	218	0.0046	-290	c.116 others(21): Show c.11689+2621_11690-2477del	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175123	GCCTGTGC others(283): Show GCCTGTGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCCT CATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACC TGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATG GGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCACGGGACGCCTGTG CCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGA CGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-290	c.-36 others(11): Show c.-3669_-3380del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3645		chr19	TogoVar
SERPINB9_chr6_2882270_2908309	2907789	TGCTCGAG others(283): Show TGCTCGAGTACGTGTGTCGAGGTGTGTGCTCGAGTACGTGTGTCGAGGTT GTGTGTGTGTGTGCTCGAGTACGTGTCGAGGTTGTGTGTGTGTGCTCGAG TACGTGTGTCGAGGTTGTGTGTGTGTGCTCGAGTACGTGTGTCGAGGTGT GTGTGTGCTCAAGTACGTGTCGAGGTTGTGTGTGTGTGCTCGAGTACGTG TGTCGAGGTGTGTGTGTGTGCTCGAGTACGTGTGTCAAGGTTGTGTGTGT GTGTGCTCGAGTACGTGTGTCGAGGTTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0383 a0001c0001t0109g0383	1	462	0.0022	-290	c.-48 others(11): Show c.-4889_-4600del	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4481		chr6	TogoVar
SHC2_chr19_411589_466033	431583	ATAGAGGA others(283): Show ATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTG AGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATAGCGCTTCAT CGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAG ATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	212	0.0047	-290	c.111 others(18): Show c.1111-1126_1111-837del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SMAD2_chr18_47803957_47935659	47850497	ATATATGT others(283): Show ATATATGTTATATATATAATATATATTATGTATAATATATGTTATATATA TAATATATATTATGTATAATATATATTATATATTATATATATATTATATA TATTATGTATAATATATATTATATATTATATATATATTATATATATTATG TATAATATATATTATATACTATATATATATTATATATATAATGTATAATA TATATTATATACTATATATATATTATATATATTATGTATAATATATATTA TATATTATATATATATTATATACATTATGTATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0197 a0001c0001t0197	a0001c0001t0197g0005 a0001c0001t0197g0005	1	310	0.0032	-290	c.784 others(15): Show c.784+487_784+776del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
STYXL1_chr7_75991342_76053000	76020664	CAGTCTTT others(283): Show CAGTCTTTACAAAAAGTAAATAAATGAGCTGGGTACCTTATCTTGCCATA TCACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCA GCCTCCCCAAGTGCTGGGACTACAGGTATGAGTCACTGGGCCTGGCTTCC TCACAGCTCTTGATGTTAGTTAGCGTCCTTGTAAGCTGTTCTGCAGATCC AAGTAAAGCCCTTGGTTCCTGGTGCATGGCACACATGGAACTGTCCCCAT AAACTTTGTGAAATCAGCAAAGAAGGGAGGGGAACAAATGA	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	356	0.0028	-290	c.307 others(16): Show c.307+897_307+1186del	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
TAFA4_chr3_68726766_68937547	68821326	CTTTTTTT others(283): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCACCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 NA18982.hp1 HG01884.hp2 HG02976.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0171 a0001c0001t0001g0268 a0001c0001t0001g0018 a0001c0001t0001g0171 a0001c0001t0001g0268	3	316	0.0095	-290	c.130 others(19): Show c.130+59114_130+59403del	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar

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Search Results (Total: 10000 hits)