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
BOP1_chr8_144257045_144296438	144281243	AATACCAG others(233): Show AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18999.hp2 NA19070.hp2 HG03453.hp1 NA18999.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0294 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0294	3	398	0.0075	-240	c.310 others(17): Show c.310-5179_310-4940del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281299	CTTTCATA others(233): Show CTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACC AGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(72): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA20752.hp1 NA20805.hp2	a0001 a0005 a0009 others(3): Show a0001 a0005 a0009 a0010 a0011 a0018	a0001c0001 a0001c0011 a0005c0009 others(4): Show a0001c0001 a0001c0011 a0005c0009 a0009c0015 a0010c0016 a0011c0017 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0005c0009t0001 a0009c0015t0001 a0010c0016t0001 a0011c0017t0001 a0018c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(67): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0002g0021 a0001c0011t0001g0138 a0001c0011t0001g0231 a0005c0009t0001g0124 a0009c0015t0001g0121 a0010c0016t0001g0115 a0011c0017t0001g0107 a0018c0023t0001g0139	75	398	0.1884	-240	c.310 others(17): Show c.310-5235_310-4996del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281316	TGGCCTTC others(233): Show TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTT CGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	398	0.0025	-240	c.310 others(17): Show c.310-5252_310-5013del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281333	AATACCAG others(233): Show AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGT CTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTT CATACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19012.hp2 NA18954.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0292 a0001c0001t0001g0296	2	398	0.0050	-240	c.310 others(17): Show c.310-5269_310-5030del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
C1orf159_chr1_1076823_1121089	1077121	GGGGAGGC others(233): Show GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCTGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	326	0.0031	-240	c.55 others(11): Show c.5532_*5771del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4701		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077541	CGAGAGGC others(233): Show CGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	326	0.0031	-240	c.51 others(11): Show c.5112_*5351del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4281		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077707	TGGGGACT others(233): Show TGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTA CGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	326	0.0031	-240	c.49 others(11): Show c.4946_*5185del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4115		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078621	GGGGAGGC others(233): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG01099.hp1 HG01884.hp2 HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02886.hp2 HG02970.hp2 HG03139.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0005 a0001c0001t0007 a0001c0002t0005	a0001c0001t0007g0105 a0001c0001t0007g0143 a0001c0001t0007g0146 others(6): Show a0001c0001t0007g0105 a0001c0001t0007g0143 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0289 a0001c0001t0007g0290 a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0002t0005g0024	9	326	0.0276	-240	c.40 others(11): Show c.4032_*4271del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3201		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	CGGGAGGC others(233): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	326	0.0031	-240	c.39 others(11): Show c.3972_*4211del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3141		chr1	TogoVar
C7orf50_chr7_992006_1143247	1128733	CCTGTCAC others(233): Show CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	326	0.0031	-240	c.-1- others(15): Show c.-1-1587_-1-1348del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CABLES1_chr18_23130485_23265470	23218300	CCTCCCGC others(233): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGGTTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0257 a0001c0004t0007g0257	1	278	0.0036	-240	c.108 others(19): Show c.1088+4342_1088+4581del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218396	GTTCCCGC others(233): Show GTTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCC TCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGGCTCCCGCATCCTCACTTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0132 a0002c0002t0006g0132	1	278	0.0036	-240	c.108 others(19): Show c.1088+4343_1088+4582del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CACNA1B_chr9_137872782_138129619	138126705	CCCCGGCC others(233): Show CCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCACTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCA TGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(12): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01255.hp2 HG01433.hp1 HG03486.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0002c0004 others(2): Show a0001c0003 a0002c0001 a0002c0004 a0002c0033 a0003c0006	a0001c0003t0034 a0002c0001t0001 a0002c0004t0001 others(2): Show a0001c0003t0034 a0002c0001t0001 a0002c0004t0001 a0002c0033t0001 a0003c0006t0001	a0001c0003t0034g0109 a0002c0001t0001g0036 a0002c0001t0001g0165 others(12): Show a0001c0003t0034g0109 a0002c0001t0001g0036 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0173 a0002c0001t0001g0180 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0214 a0002c0001t0001g0227 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0033t0001g0161 a0003c0006t0001g0147 a0003c0006t0001g0150	15	248	0.0605	-240	c.47 others(11): Show c.4707_*4946del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2087		chr9	TogoVar
CAMKK1_chr17_3855315_3898053	3867970	ATCTGGGG others(233): Show ATCTGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGCTCTGGGGGA GAAGCAGGCGCCGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCG CAGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACT GATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGG CTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0371 a0002c0001t0003g0371	1	446	0.0022	-240	c.134 others(19): Show c.1341+1277_1341+1516del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868006	CGGGCTCT others(233): Show CGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACACAGGATCTGG GGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCA GGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCT AACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACG TGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0426 a0001c0003t0030g0426	1	446	0.0022	-240	c.134 others(19): Show c.1341+1241_1341+1480del	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CASZ1_chr1_10631604_10801646	10744344	CGGCACCA others(233): Show CGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGG GCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC ACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCAC CACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCA CGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0105 a0001c0003t0002g0105	1	236	0.0042	-240	c.-77 others(19): Show c.-77+16117_-77+16356del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CDK12_chr17_39456486_39539544	39498971	CTTTCTTT others(233): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0020 a0001c0002t0042g0020	1	260	0.0039	-240	c.242 others(19): Show c.2420-2275_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP46_chr10_132803392_132947570	132895891	TTCTGTGT others(233): Show TTCTGTGTGCCACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTG CCATGAGACACGGCGAGAAGGCAGCTAGGCTCTGTGTGCCATGAGACACG GCGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAAGG CAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGC TCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03486.hp2 HG01261.hp1 HG03486.hp2	a0009 a0010 a0009 a0010	a0009c0043 a0010c0072 a0009c0043 a0010c0072	a0009c0043t0001 a0010c0072t0002 a0009c0043t0001 a0010c0072t0002	a0009c0043t0001g0155 a0010c0072t0002g0004 a0009c0043t0001g0155 a0010c0072t0002g0004	2	246	0.0081	-240	c.321 others(19): Show c.3219+2828_3219+3067del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132895992	CGAGAAGG others(233): Show CGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAAGGC AGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCT CTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCC ACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTGCCATGAGACAC GGCGAGAAGGCAGCTAGGCTCTGTGTGCCATGAGACACAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 HG02055.hp1 NA18940.hp2 NA18960.hp2 NA18980.hp1	a0003 a0011 a0019 others(2): Show a0003 a0011 a0019 a0035 a0037	a0003c0007 a0011c0010 a0019c0020 others(2): Show a0003c0007 a0011c0010 a0019c0020 a0035c0057 a0037c0056	a0003c0007t0002 a0011c0010t0001 a0019c0020t0001 others(2): Show a0003c0007t0002 a0011c0010t0001 a0019c0020t0001 a0035c0057t0001 a0037c0056t0001	a0003c0007t0002g0056 a0011c0010t0001g0197 a0011c0010t0001g0198 others(6): Show a0003c0007t0002g0056 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0019c0020t0001g0149 a0019c0020t0001g0150 a0035c0057t0001g0234 a0037c0056t0001g0136	9	246	0.0366	-240	c.321 others(19): Show c.3219+2727_3219+2966del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
COL20A1_chr20_63288186_63339806	63304106	TGCAGGTG others(233): Show TGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTCCAGGTGTGCAGGTGTG GGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCATGTGTGGGTTCCTCCC TCCCTTCCTCCCTCCAGGTGTGCACGTGTGGGTTCCTCCCTCCCTTCCTC CCTCCAGGTGCGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTG TGCAGGTGTGGGTTCCTCCCTCCTCTTCTCCCTGCAGGTGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0007 a0003c0043t0007	a0003c0043t0007g0137 a0003c0043t0007g0137	1	290	0.0035	-240	c.194 others(17): Show c.194-1288_194-1049del	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178448110	ACAGTCCG others(233): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTT TTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTC GCAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCGCAGTCCGTTTTGTTCTGTTAGTGCTAGTCG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	236	0.0042	-240	c.361 others(21): Show c.361+112332_361+112571del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110481532	GTTGCTGG others(233): Show GTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0002 a0017 a0002 a0017	a0002c0107 a0017c0061 a0002c0107 a0017c0061	a0002c0107t0033 a0017c0061t0011 a0002c0107t0033 a0017c0061t0011	a0002c0107t0033g0174 a0017c0061t0011g0039 a0002c0107t0033g0174 a0017c0061t0011g0039	2	372	0.0054	-240	c.275 others(17): Show c.2759-958_2759-719del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134849283	GGGATCAC others(233): Show GGGATCACACCTCCCAGGAACCACAATATCACACCTCCCAGGAACCACGA TATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATA TCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGATC ACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCAC ACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	272	0.0037	-240	c.69 others(11): Show c.6981_*7220del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4441		chr9	TogoVar
CPSF6_chr12_69234569_69279358	69236163	CTAAAATA others(233): Show CTAAAATATATATAGCATATATATTATATATTAAAATATATATAGCATAT ATATTATATATTAAAATATATATAGCATATATATTATATATTAAAATATA TGTAGCATATATATTATATATTAAAATATATGTAGCATATATATTATATA TTAAAATATATGTAGCATATATATTATATATTAAAATATATATAGCATAT ATATTATATATTAAAATATATATAGCATATATATTATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03942.hp1 HG03239.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0031 a0001c0002t0024g0130 a0001c0002t0024g0031 a0001c0002t0024g0130	2	392	0.0051	-240	c.-34 others(11): Show c.-3483_-3244del	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3405		chr12	TogoVar
CRLF2_chrX_1185490_1217649	1211481	ATGGATGG others(233): Show ATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGAT GGATGTATTGGTGGATGGATGGGTGGATGGATGGATGGATGGATAAGTGG ATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTATTGGTGGATGGAT GGGTGGATGGATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGC ATGGATGGATGGATGTATTGGTGGATGGATGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp2 HG02523.hp1 others(10): Show HG01261.hp1 HG02257.hp2 HG02523.hp1 HG02630.hp2 HG02922.hp1 NA18906.hp2 NA18964.hp1 NA18988.hp1 NA18990.hp1 NA19005.hp1 NA19058.hp1 NA19077.hp2 NA19085.hp2	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0024	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0002c0005 a0002c0009 a0020c0035 a0024c0019	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0005 a0001c0007t0001 a0002c0004t0001 a0002c0005t0001 a0002c0009t0001 a0020c0035t0001 a0024c0019t0002	a0001c0001t0001g0027 a0001c0001t0006g0079 a0001c0002t0002g0009 others(10): Show a0001c0001t0001g0027 a0001c0001t0006g0079 a0001c0002t0002g0009 a0001c0002t0002g0090 a0001c0002t0005g0081 a0001c0007t0001g0083 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0091 a0002c0005t0001g0078 a0002c0009t0001g0026 a0020c0035t0001g0135 a0024c0019t0002g0003	13	167	0.0778	-240	c.79+ others(14): Show c.79+835_79+1074del	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(233): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(57): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp2 NA18987.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19070.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0007 a0001c0013 others(4): Show a0001c0001 a0001c0007 a0001c0013 a0001c0021 a0001c0042 a0004c0004 a0015c0031	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0007t0003 a0001c0007t0012 a0001c0013t0001 a0001c0021t0007 a0001c0042t0001 a0004c0004t0001 a0004c0004t0003 a0004c0004t0009 a0004c0004t0011 a0015c0031t0004	a0001c0001t0002g0019 a0001c0001t0002g0140 a0001c0001t0002g0141 others(56): Show a0001c0001t0002g0019 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0347 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0352 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0360 a0001c0007t0003g0362 a0001c0007t0003g0363 a0001c0007t0003g0364 a0001c0007t0003g0365 a0001c0007t0012g0353 a0001c0013t0001g0091 a0001c0021t0007g0341 a0001c0042t0001g0095 a0004c0004t0001g0305 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0310 a0004c0004t0001g0311 a0004c0004t0001g0312 a0004c0004t0001g0314 a0004c0004t0001g0315 a0004c0004t0001g0318 a0004c0004t0001g0319 a0004c0004t0001g0321 a0004c0004t0001g0324 a0004c0004t0001g0327 a0004c0004t0001g0328 a0004c0004t0001g0330 a0004c0004t0003g0316 a0004c0004t0003g0317 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0338 a0004c0004t0009g0326 a0004c0004t0011g0333 a0015c0031t0004g0196	60	378	0.1587	-240	c.274 others(19): Show c.2747+3451_2747+3690del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15932061	TGAGGAGA others(233): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG TGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0286 a0002c0001t0015g0286	1	386	0.0026	-240	c.198 others(17): Show c.198+1910_198+2149del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932289	GGAATGAG others(233): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	386	0.0026	-240	c.198 others(17): Show c.198+1682_198+1921del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932363	GGGAGAGG others(233): Show GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0244 a0001c0002t0003g0244	1	386	0.0026	-240	c.198 others(17): Show c.198+1608_198+1847del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCAKD_chr17_45018344_45056632	45051709	CCGGGAGA others(233): Show CCGGGAGAGGTTGGGTGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGG GCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGA GGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGG GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGC GGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01099.hp2 HG00733.hp2 HG01069.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0054 a0001c0002t0001 a0001c0002t0054	a0001c0002t0001g0005 a0001c0002t0001g0186 a0001c0002t0054g0115 a0001c0002t0001g0005 a0001c0002t0001g0186 a0001c0002t0054g0115	3	408	0.0074	-240	c.-70 others(9): Show c.-703_-464del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		78		chr17	TogoVar
DIP2C_chr10_269201_694668	346403	CACCCAAC others(233): Show CACCCAACCCAGACATATCGCGTATAGTTCTCCCGGAAACGTCACACACA CCCAACCCAGACACATCGCGCATAGTTCTCCCGGAAACCCCACACGCACC CAGACACATCGCGCATAGTTCTCCCGGAAACCCCACACTCACCCAACCCA GACACATCGCGCATAGTTCTCCTGGAAACCCCACACTCACCCAACCCAGA CACACCGCGCATAGTTCTCCCGGGAACCCCACACTCACCCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG03225.hp1 others(1): Show HG02280.hp1 HG02809.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0001t0002 a0001c0005t0001 a0001c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0005t0001g0009 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0005t0001g0009 a0001c0005t0002g0010	4	88	0.0455	-240	c.323 others(19): Show c.3232-1533_3232-1294del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	26/36			chr10	TogoVar
DNAJB6_chr7_157332004_157422439	157356966	TAGTTTTT others(233): Show TAGTTTTTTGTTTTTTTGATGAAAGGACTTCCATAAAAACAAGAGTTTTA GGTCCAGGTTTGGTGGCTCATGCCTGCAGTCCCAGCACTTTGGGAGGCTG AGGTGGGAAGAATCCTTGAGCCCAGGAGTTTGAGACCAAGATCAGCAACA AAGTGAGACCCTGTCTCAATTAAAAAAAAAAACAAAAAACAAAAACCAAG AGTTGAAGTTTCCACAGATGTGTCTTTGTGGCTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0146 a0001c0001t0024g0146	1	372	0.0027	-240	c.-26 others(17): Show c.-26-1580_-26-1341del	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DOC2B_chr17_137789_186650	166925	CATGGTCT others(233): Show CATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG02451.hp2 others(1): Show HG01361.hp1 HG02056.hp2 HG02451.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0045 a0001c0001t0001 a0001c0001t0010 a0001c0001t0045	a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0010g0102 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0010g0102 a0001c0001t0045g0118	4	339	0.0118	-240	c.454 others(17): Show c.454-2961_454-2722del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPH7_chr9_137549444_137583925	137566753	CTCTGTCT others(233): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	340	0.0029	-240	c.641 others(17): Show c.641-1839_641-1600del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567702	CGTGAGGA others(233): Show CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	340	0.0029	-240	c.641 others(17): Show c.641-2788_641-2549del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440825	ACCAGGAC others(233): Show ACCAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCC CCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGACCAGGA CAGCCCCCCCAGACCAGGACACCCCCTCAGACAGAACAGTCCCCCAGACC AGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCC CAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	392	0.0026	-240	c.-21 others(15): Show c.-21+221_-21+460del	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERFL_chr19_41902704_41933449	41914655	CATCTCTG others(233): Show CATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTT CCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCC CCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCC CTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCC CCCTCCACCATCTCTGTCTCTCCCTCCCCTCCATCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02630.hp1 HG03239.hp2 others(3): Show HG01993.hp1 HG02630.hp1 HG03239.hp2 HG03453.hp2 NA18975.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0151 a0001c0001t0001g0207 a0001c0001t0003g0247 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0207 a0001c0001t0003g0247 a0001c0001t0003g0255 a0001c0001t0003g0260 a0001c0001t0003g0280	6	330	0.0182	-240	c.-13 others(17): Show c.-13-1963_-13-1724del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH1_chr8_659200_736224	675282	GGCGGCCC others(233): Show GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0210 a0001c0013t0001g0210	1	378	0.0027	-240	c.305 others(17): Show c.305-1475_305-1236del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC2_chr6_480154_698139	601244	ACGAATCC others(233): Show ACGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGT GCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0214 a0001c0001t0022g0214	1	272	0.0037	-240	c.743 others(17): Show c.743-2259_743-2020del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602206	GAATCCAC others(233): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	272	0.0037	-240	c.743 others(17): Show c.743-3221_743-2982del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
F7_chr13_113100791_113125685	113111480	GAGGACAC others(233): Show GAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTCACACT CACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCT CACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCA CACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCA CACGGGGCACACTTCACACTCACAGGTCACCTCACACCCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(96): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03471.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0004g0026 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0017g0233 a0001c0001t0019g0214 a0001c0001t0023g0200 a0001c0009t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198	99	400	0.2475	-240	c.225 others(15): Show c.225+665_225+904del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FNDC11_chr20_63549159_63561695	63559436	AGGAGTCA others(233): Show AGGAGTCAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAG GGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTG GGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGT GGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-240	c.28 others(11): Show c.2817_*3056del	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2742		chr20	TogoVar
FOXN3_chr14_89151177_89422233	89360751	CCACCACC others(233): Show CCACCACCTCCACCACTACCACCTCCACCACCACCTCCACCACCACCACC TCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCACC ACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0110 a0001c0002t0010g0110	1	230	0.0044	-240	c.544 others(18): Show c.544-10183_544-9944del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132212423	TGCAGCCC others(233): Show TGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTC AGACCTCGACACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGAC ACGGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCC CACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTC TAGCAGCCCTCAGACCTCGACACAGAAACCCCACCCGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02683.hp2 NA19009.hp2 HG01978.hp1 HG02683.hp2 NA19009.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0001c0007 a0006c0037 a0001c0005 a0001c0007 a0006c0037	a0001c0005t0001 a0001c0007t0001 a0006c0037t0001 a0001c0005t0001 a0001c0007t0001 a0006c0037t0001	a0001c0005t0001g0008 a0001c0007t0001g0159 a0006c0037t0001g0010 a0001c0005t0001g0008 a0001c0007t0001g0159 a0006c0037t0001g0010	3	183	0.0164	-240	c.107 others(19): Show c.1078-8973_1078-8734del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231258	GTGCCACA others(233): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0175 a0001c0009t0002g0175	1	183	0.0055	-240	c.107 others(21): Show c.1077+16412_1077+16651del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232548	GTGCCACA others(233): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02735.hp1 HG01433.hp2 HG02735.hp1	a0001 a0001	a0001c0012 a0001c0015 a0001c0012 a0001c0015	a0001c0012t0002 a0001c0015t0001 a0001c0012t0002 a0001c0015t0001	a0001c0012t0002g0180 a0001c0015t0001g0024 a0001c0012t0002g0180 a0001c0015t0001g0024	2	183	0.0109	-240	c.107 others(21): Show c.1077+15122_1077+15361del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232692	CTGCCACA others(233): Show CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02273.hp1 HG02273.hp2 HG01167.hp2 HG02273.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0131 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0131	3	183	0.0164	-240	c.107 others(21): Show c.1077+14978_1077+15217del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233148	CAGGAGAC others(233): Show CAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-240	c.107 others(21): Show c.1077+14522_1077+14761del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233434	CAGAGGAG others(233): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGA GGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA21309.hp2 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0094 a0001c0002t0005g0066 a0001c0001t0001g0094 a0001c0002t0005g0066	2	183	0.0109	-240	c.107 others(21): Show c.1077+14236_1077+14475del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233818	CAGAGGAG others(233): Show CAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02976.hp1 others(1): Show HG02109.hp1 HG02717.hp2 HG02976.hp1 NA19056.hp1	a0001 a0001	a0001c0009 a0001c0014 a0001c0019 a0001c0009 a0001c0014 a0001c0019	a0001c0009t0002 a0001c0014t0003 a0001c0019t0003 a0001c0009t0002 a0001c0014t0003 a0001c0019t0003	a0001c0009t0002g0168 a0001c0014t0003g0074 a0001c0014t0003g0146 others(1): Show a0001c0009t0002g0168 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0019t0003g0145	4	183	0.0219	-240	c.107 others(21): Show c.1077+13852_1077+14091del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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Search Results (Total: 10000 hits)