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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
SBF2_chr11_9773668_10299219	10271181	ACAGCAAT others(1099): Show ACAGCAATCTTGATTCTTTTTTTTTTTTTTTTTTGAAGTTAAGAATTCTT TTAGGTTGTAATATTTTCATGTTAGTTTTTAATCATTTACAATGTTCTGT GGGTCACATTTTAAACATTTTTAAATATATGAAATTCTGTATTTCTTTAA GTACAGCCACAACTACAAAGCAGAGAAACGTAAGAATACAAAAATCAAAT CTGCTTCATTTATATACACGATGGGGCAGCCTAATGCACATCATAACATT AACTTTTCCAAAGAAGTTTGCTAAGAATCTGCTCCCATAATTAGTGTTAA AAATAAAGCAATCTTCCCATTTAGAAAAATCAAGACATCAGTTGATTAAT AAAGCCTATTCTTCCTCCCAGCAATTTGTACTTTCTGGTCTTCATTTAGG AATTATAAATTCATGAGAAAAGAACAAATTTTTTATGGAATAAATAACTT CCAGGAACAACAGTTTATAAGTATTCAGTTGTTTAAATAAACAAAACTAT TTTCCTTCCTAAAATGTAAACATCCAGTAAATGAAACATACATGATATTC CAGGTATAGAAATCTTAGTAACTCACTTATGAAAGAGGTGCATTTTGGTA TGTTTGGTGGTAAGGTTTTTGTTTATCTTATGTATAAAAGTACTTGCACA AAAAAACAAGCAGTTATTACTATTTAAAATTCTATTCCTTCACCCAGTTT TCTCACTCAAGTAGAAACTCATGAATATCTGTGATTTTGGCTATAGGACC AGGCCACAGGAAAGGGCTGAAATATCTCTAAAAGTTAGGTAAAAGTGTTT TCTTGAGACTTGAAGGCAGTCATTCATCACTTTGTGCTTGAAGGCATTCC TCAGCAAACTTCTCTCGAGTCTTCAGAGTAAAGCACAGGATCTAGGCTCC CGGAAGGGGTTACTTCCAGCTGGAACACCCACCAGCAGGGCATCCTTGCA GGCATTCTGCATACAGTACTGTTGAAGCTCTGCAGCTGCCTGAGAGACCT TGATCCTCTCCACGCCAGCCTCCAACTTGAGCTGCTCTACCAAGAGCTGC AGGGCGCTCGCGCTAGCCCCGGAGGACATGGCGGCGGCGCTGGGCTCCTA GGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(106): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0018 a0002c0002 a0003c0004 a0004c0010 a0005c0006 a0007c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0001c0012t0005 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0010t0001 a0005c0006t0002 a0005c0006t0004 a0007c0008t0005 a0009c0014t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(106): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0161 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0189 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0005g0192 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0007 a0001c0001t0007g0188 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0012g0001 a0001c0001t0017g0181 a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0019 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0184 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0205 a0001c0003t0005g0162 a0001c0003t0005g0186 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0012t0005g0194 a0001c0018t0001g0050 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0003g0036 a0002c0002t0004g0010 a0002c0002t0004g0014 a0002c0002t0004g0020 a0002c0002t0004g0069 a0002c0002t0004g0215 a0003c0004t0003g0009 a0003c0004t0003g0011 a0003c0004t0003g0022 a0003c0004t0003g0026 a0003c0004t0003g0028 a0003c0004t0003g0032 a0003c0004t0003g0052 a0003c0004t0003g0182 a0004c0010t0001g0169 a0004c0010t0001g0183 a0005c0006t0002g0045 a0005c0006t0004g0213 a0005c0006t0004g0217 a0007c0008t0005g0062 a0007c0008t0005g0063 a0009c0014t0002g0071	109	224	0.4866	-1106	c.55+ others(17): Show c.55+21728_55+22833del	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
VNN2_chr6_132738870_132762904	132758188	GTGCGCGC others(1099): Show GTGCGCGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTCACAATATTGGCCAGGCTGGTCTCAAACTCCTGATCTTGTGATCCAT CCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACT TGGCCTACTTTATAATCTTAAGAACGCAATATATCTGACCACTTTTAAAG AAAGAAAAGTTGCAGTCCATTTAAGACAATCAGAAAGTATTACAGGGATT GAACAGCATGTACTATTAGTACTAAGATTTAATATTGAATTTCCAAAAGA CACCCGAATTCAAATATAGAACAATTCCAGCTTTTGTTAATAGAAACTCA TAACTAACTCTCGTGTAAAAAAATCACATCCCAACAAATATCTCATTTAT TAAATTTAAAAATTGACAACAATTTTTTTGGTTCTGTTGAGTCACTTACA TTGTGTTTATTTTTAGACGGGGGGGAAAATATTAAATACTTACTACTAAG AAAATGTAACACAGGACAATATTGATAACAAAATTTACCCAAATCTACAC TCTGACTTACTTATTGCTATTAAGGACTGAAAACATGTGCTCCAGAAAAG CAGGATTTTGTGTCTGGTTTGTTCACTGCTGTATAGTTAGTGCCTACAGC AACAATACCCCGAGGCACCTAGGCCAGAGGAGGAATCTCAGCTCAGGGGC CCCAGGCCTCAGGATACTCCGCTTCTTTCCTTCTTTCTCTCTTTCACCCT TCCCTCCCCATCCTCCCCCTACTTCTCCTTCTCCTCCTACTCCTTCTCCT CCTTCTTTTTCCTCCCTCCCCACCCCCTGCTTTGGAGGAAGATGCCAGGG AAGGGGAAGAGTCCAGGATTGGTGATAAAGATCATCTGTGTTGTAATAAG GAGAAGATGTAACTTACATTTTTGTTAGCAGCAAATAACAACAATGAGTT TAAAAACAATGCTAACAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCTA GCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG ACCAGCCTGGCCAACATAGTGGAACCCCCCATCTCTACCAAAAACACAAA AAGTAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19083.hp2 NA19091.hp2 NA18940.hp1 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0002 a0001c0001t0002g0023	3	436	0.0069	-1106	c.-14 others(10): Show c.-1411_-306del	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		285		chr6	TogoVar
DOCK1_chr10_126900428_127457516	127260891	GTGCTCAT others(1098): Show GTGCTCATCTGTGTACCTGCACGTGTGTGCATGTGGGTGTGTGTGTGTAC CCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTGTGTACCCGTGC TCATGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTCTGTATGTGTGT ACCCGTGCTCATGTGTGTGTGCATGTGGGTGTGTGTGTACCTGTGCTCAT CTGTGTGTGTACCTGCATGTGTGTGCATGTGTGTGTGCCTGCATGTGTGT GCGTGTGTACCCGTGCTCATCTGTGTGTGTCCCTGCATGTGTGTGCATGC GGGTGTGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTGCGTGTGTGT ACCTGCATGTGTGTGCATGTGGGTGTGTGTGTGTGCCTGCATGTGTGTGC ATGTGGGTGTGTGTGTGTGTGCCTGCATGTGTGTGCATGTGGGTGTGCGT GTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTACCT GCATGTGTGTGCATGTGGGTGTGTGTGTACCCATGCTCATCTGTGTGTGT ACCTGCATGTGTGTGCGTGTGTGTGTGCCTGCATGTACCCGTGCTCATCT GTGTGTGTGCATGTGGGTGTGTGTGTACCTGCATGTGTGTGCATGTGGGT GTGTGTGTACCCGTGCTCATCTGTGTGTGTACCTGCATGTGTGTGCATGT GGGTGTGTGCCTGCATGTACCCGTGCTCATCTGTGTGTGTGCATGTGTAC CTGCATGTGTGTGCATGTGGGTGTGTGTGTACCTGCATGTGTGTGCATGT GGGTGTGCGTGTACCTGCATGTGTGTGCATGTGGGTGTGCGTGTGTGTAC CCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTGTGTACCTGCAT GTGTGTGCATGTGGGTGTGGGTGTGTACCTGCATTGTGTGCATGTGGGTG TGCGTGTGTGTACCTGCATGTGGGTGTGCGTGTGTGTACCCGTGCTCATC TGTGTGTGTGCATGTGTGTGTGTACCCGTGCTCATCTGTGTGCATGTGGG TGTGTGTGTGTGTACCCGTGCTCCTCTGTGTGCATGTGGGTGTGTGTGTG TACCCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02818.hp2 HG03540.hp2 others(3): Show HG01192.hp1 HG02818.hp2 HG03540.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0001c0006 a0001c0028 others(3): Show a0001c0004 a0001c0006 a0001c0028 a0001c0037 a0003c0003 a0004c0071	a0001c0004t0010 a0001c0006t0001 a0001c0028t0001 others(3): Show a0001c0004t0010 a0001c0006t0001 a0001c0028t0001 a0001c0037t0002 a0003c0003t0004 a0004c0071t0003	a0001c0004t0010g0052 a0001c0006t0001g0041 a0001c0028t0001g0123 others(3): Show a0001c0004t0010g0052 a0001c0006t0001g0041 a0001c0028t0001g0123 a0001c0037t0002g0117 a0003c0003t0004g0066 a0004c0071t0003g0114	6	136	0.0441	-1105	c.304 others(19): Show c.3044+3474_3044+4578del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(1098): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	350	0.0029	-1105	c.20 others(11): Show c.2059_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186162	GACACGGG others(1098): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGA ACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03139.hp1 others(4): Show HG02486.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(4): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181	7	350	0.0200	-1105	c.19 others(11): Show c.1931_*3035del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2827		chr16	TogoVar
RDH13_chr19_55039316_55068148	55064676	GATCTCAG others(1098): Show GATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGGCTACAGGCACGTGTCACCACACCCGG CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGT TGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCACCCAAA GTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCGGGAAGCTGTTTT TTAATAGATACAGAGTTTGTTTTGCAAAATAAAAAAAAGACCTGAAGGTG GACGGTGGTGATGGTTGCACAACAATGTGAATATACTTAACATCACTGAA TTGTACACTTAAAATGGTTAAGATGGTACATTTTACTTTATGCATAGTTT ACCAAACTAAAAATAAAGAAAAATTTTAGACTGGGCATGGTGGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGAGAATAGTATGAGCCCA GGAGTTTGAGAGCGGCCTGGACAACACGGCAAAACCTTATCTCTACAAAA AATACAAAAATTAGCAGGTTTGGTGGCACGCATCTGCACCCTCAGCTACT TGGGAGGCTGAGGTGGGAGGTCTGCTTGAGCCCAGGAGGTCAAGGCTATG ATGAGCTGTGATTGTGCCACTGCACCCCAGGCTGGGTGACAGAGCAAGAC CCCATCTCAAAAATAATAATAATAAATGTTTACATTTAATAACATGGGCA ATTGGTTCAGATGTTCATTTTCTCAACCTTGAAAAAAAAACAACACTGTT TTTCCCTGTCTTTTTCTCCTTTTCTGTAAACTGAAATCCTAATATCATTG ACTTCCAGGACAGAGATCAGCAAACTTTTTCTACAAACAGCCAGATAGTA AATAATTTCAGCTTTGTGATCCACACAGTGGCTGTTGCACCTCCTCTGCC AGAGGAGCTGGGAAGCAGCCACAGATGATGTGAAAACAAGTGAGCACAGC TGTGTTCCCATAAAACTTTATTTATAAAAATAAGCAGTGCGCCACAGTTC GCCAGCTCCTGTTTGAGAGTCTCTCTCCGATGCCCAGGCTGGAGCGCAGT GATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01934.hp2 others(15): Show HG00438.hp2 HG00558.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp1 HG02074.hp1 HG02148.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp2 NA18972.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19054.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0005 a0002c0003t0002 a0001c0001t0005 a0001c0002t0005 a0002c0003t0002	a0001c0001t0005g0037 a0001c0001t0005g0044 a0001c0001t0005g0055 others(13): Show a0001c0001t0005g0037 a0001c0001t0005g0044 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0002t0005g0045 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0067 a0002c0003t0002g0071 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0084 a0002c0003t0002g0086 a0002c0003t0002g0091 a0002c0003t0002g0093	18	377	0.0478	-1105	c.-27 others(11): Show c.-2749_-1645del	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1529		chr19	TogoVar
RDH13_chr19_55039316_55068148	55064706	AGGTTCAA others(1098): Show AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGCTACAG GCACGTGTCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCC ACCTGCCTCGGCCACCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCA CCCGGCCGGGAAGCTGTTTTTTAATAGATACAGAGTTTGTTTTGCAAAAT AAAAAAAAGACCTGAAGGTGGACGGTGGTGATGGTTGCACAACAATGTGA ATATACTTAACATCACTGAATTGTACACTTAAAATGGTTAAGATGGTACA TTTTACTTTATGCATAGTTTACCAAACTAAAAATAAAGAAAAATTTTAGA CTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAG TGGAGAATAGTATGAGCCCAGGAGTTTGAGAGCGGCCTGGACAACACGGC AAAACCTTATCTCTACAAAAAATACAAAAATTAGCAGGTTTGGTGGCACG CATCTGCACCCTCAGCTACTTGGGAGGCTGAGGTGGGAGGTCTGCTTGAG CCCAGGAGGTCAAGGCTATGATGAGCTGTGATTGTGCCACTGCACCCCAG GCTGGGTGACAGAGCAAGACCCCATCTCAAAAATAATAATAATAAATGTT TACATTTAATAACATGGGCAATTGGTTCAGATGTTCATTTTCTCAACCTT GAAAAAAAAACAACACTGTTTTTCCCTGTCTTTTTCTCCTTTTCTGTAAA CTGAAATCCTAATATCATTGACTTCCAGGACAGAGATCAGCAAACTTTTT CTACAAACAGCCAGATAGTAAATAATTTCAGCTTTGTGATCCACACAGTG GCTGTTGCACCTCCTCTGCCAGAGGAGCTGGGAAGCAGCCACAGATGATG TGAAAACAAGTGAGCACAGCTGTGTTCCCATAAAACTTTATTTATAAAAA TAAGCAGTGCGCCACAGTTCGCCAGCTCCTGTTTGAGAGTCTCTCTCCGA TGCCCAGGCTGGAGCGCAGTGATGCAATCTCAGCTCACTGCAACCTCTGC CTCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0078 a0002c0003t0002g0078	1	377	0.0027	-1105	c.-27 others(11): Show c.-2779_-1675del	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1559		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291354	TCCGTGTC others(1098): Show TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG TGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCC TCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCC CTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCT GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCG TGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACC CTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCC CCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTC CGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTC CCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGT CCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTA CCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTCC GTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	284	0.0035	-1105	c.121 others(17): Show c.1214+40_1214+1144del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1398694	CCCTCCTC others(1097): Show CCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTC ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGTGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTACCTCC TCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGA GAACTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGC TTACTGAGTGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACTGAG CGCCA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-1104	c.107 others(21): Show c.107-102657_107-101554del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	166641	ATCTGACA others(1097): Show ATCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGACGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02027.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0145 a0001c0001t0001g0156	2	339	0.0059	-1104	c.454 others(17): Show c.454-3541_454-2438del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(1097): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTGATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGAT CTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCT CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp2 homoSapiens_chm13v2.hp1 HG00323.hp2 HG01256.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0051 a0001c0001t0002 a0001c0001t0051	a0001c0001t0002g0125 a0001c0001t0002g0218 a0001c0001t0051g0212 a0001c0001t0002g0125 a0001c0001t0002g0218 a0001c0001t0051g0212	3	339	0.0089	-1104	c.454 others(17): Show c.454-3607_454-2504del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DOC2B_chr17_137789_186650	167117	CATGGTCT others(1097): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT CTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATAC GTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGT CTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCT CACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCA CGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACG AGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAG ATCTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00673.hp2 others(42): Show HG00544.hp1 HG00621.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01934.hp1 HG02056.hp1 HG02071.hp1 HG02165.hp1 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG03017.hp2 HG03453.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18959.hp1 NA18964.hp2 NA18973.hp2 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0043 a0001c0001t0050 a0001c0001t0057 a0001c0003t0002 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0174 a0001c0001t0005g0058 a0001c0001t0013g0059 a0001c0001t0017g0032 a0001c0001t0021g0201 a0001c0001t0043g0266 a0001c0001t0050g0205 a0001c0001t0057g0202 a0001c0003t0002g0282 a0001c0003t0002g0285 a0001c0009t0001g0177	45	339	0.1327	-1104	c.454 others(17): Show c.454-4017_454-2914del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
FUT2_chr19_48690971_48710951	48706493	TAGGCGTG others(1097): Show TAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTGCTAGGGAGGCTGAGAC AGAAGAATCGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCTGAGATCA CACCATTGCACTGCAGCCTGGGCAACAAGAGCGAAACTTGGTCAAAAAAA AGAACAAGGCAACTTTTACAACGATTTTTTAGATCTCAATATTACAGTAT TTTCTCCAGACTACCCACAAATACATACTGTGCACCTATCATGTATCAGA AAGCAATCTAGGAGATACGATCCCTGCTCTCAAGACGGCATTAACAAATC ACTTCAAAATATAATTGGTACAGGCCAGGTGCAGTGGCTCACGCCTGTAA TCCCAACACTTTGGGAGGCCAAGGTGGCAGGGTCACTTGAGAGCAAGAGT TCAAGACCAGCTTGGGCAACATAGGGAGATCCTGTCTCTACAAAAAATAA AAAACTAACTGGGTATAGTGGAATACAACTGTAGGACCAGCTACTCGGAA GGCTGAAGTGGGAGGATCAATTGAGCCCAGGAGTTTGGGGCTTCAGTGAG CCACAATCACACCTGTGCATAGCCACTGCATTCCAAAGTCGCAACATAGC AAGACACCATCACTAACAAAATTTTTAAAAATCGAAAAGATACAGGCCAG GCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGG TGGATCACAAAGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAAC CCTGCCTCTACTAAAAATACAAAAATTAGCTGCTGTGGTGGCACGCACCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAATCCGG GAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGC CAGTAGCGCGAGACTCCGTCTAAAAAAAAAAAAGATAATTGAAAAGATAC AATTAGATCCTGAGGCAAGCAGGTGCTATGGCTCACATCTGTAATCCCAG CACTTTGGGAGGCCAAGGTGGGTGGATCACTTCAGATCAGGAGTTTGAGA CCAGCCTGGCTGACATGGTGAAACTCTGTCTGTGCTAAAAATACAAAAAT TAGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0003 a0001c0004t0009g0003	1	394	0.0025	-1104	c.25 others(11): Show c.2506_*3609del	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding		543		chr19	TogoVar
GALNT9_chr12_132191372_132334589	132233885	TCCCTAGT others(1097): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGT GGAGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01978.hp1 HG02027.hp2 others(32): Show HG01346.hp1 HG01978.hp1 HG02027.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02698.hp2 HG02965.hp1 HG03041.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0036 a0004c0024 a0006c0037	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0012t0002 a0001c0036t0003 a0004c0024t0001 a0006c0037t0001	a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0071 others(32): Show a0001c0001t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0026 a0001c0005t0001g0037 a0001c0005t0001g0113 a0001c0007t0001g0015 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0169 a0001c0009t0002g0175 a0001c0012t0002g0179 a0001c0036t0003g0055 a0004c0024t0001g0160 a0006c0037t0001g0010	35	183	0.1913	-1104	c.107 others(21): Show c.1077+12921_1077+14024del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HSD17B14_chr19_48808018_48841491	48834426	CTCCTGGG others(1097): Show CTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAG GTCTGGACTCCTGGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAAGA GGGGCTGGGAGCCTGGACCCCTGGGTCTGAAGGAGGAGGGGTTGGGGACT TGGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(24): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00609.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp2 NA18944.hp2 NA18956.hp2 NA18968.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18992.hp2 NA19004.hp2 NA19054.hp1 NA19057.hp1 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0259 a0001c0001t0001g0260 others(24): Show a0001c0001t0001g0031 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284	27	394	0.0685	-1104	c.127 others(14): Show c.127+275_128-69del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834426	CTCCTGGG others(1097): Show CTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA GGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCC GAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAG GTCTGGACTCCTGGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTG GGTCTGAGGGAGGAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAAGA GGGGCTGGGAGCCTGGACCCCTGGGTCTGAAGGAGGAGGGGTTGGGGACT TGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(14): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 NA18944.hp2 NA18956.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA19004.hp1 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0021 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0021 a0001c0008t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0003	a0001c0001t0001g0012 a0001c0001t0001g0108 a0001c0001t0001g0139 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0108 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0021g0279 a0001c0008t0001g0219 a0002c0002t0002g0005 a0002c0002t0003g0249 a0004c0004t0003g0247	17	300	0.0567	-1104	c.17 others(11): Show c.1759_*2862del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2670		chr19	TogoVar
SHD_chr19_4274266_4295722	4293125	GGCTGATT others(1097): Show GGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT TTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTGTAGCAGCGGTGCG ATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAAGTGATTCTCCTGC CTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGCTACTACGTCTGGC TAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCACGTTGGCCAGGC TGGTCTCGAACTCCTGGCCTCGTGATTCGCCCGCCGTGGCCTCCCAAAAT GCTGGGATTACATGCATGAGCCACTGCACCCGGCCAATTTTTTTTTTTTT TTAATTTCAAACTGTCTTTTTGTTTGTTTGTTTGTTTTTTGAGACAGGGT CTCTCTCTGTCACCCAGGCTGGAGTACAGTGGGGAAACTATAGCTCACTG CAGCCTCCGCCTCCCAGGTTCAAGCAATCCTCACACCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGTGTGCCACCAAGCCAGGCTAATTTTTTTGTTG TTGTTGAGATGGAGTCTGGCTGTGTCGCCCAGGCTGGAGTGTAGTGAGGC AGTCTGGGCTCACTGCAATCTCTGCCTCCTGGGTTCCAGTGATTCTCCTG CCTCAACCTCCCAAGCAGCTGGGACTACAGGCACAGGCCACCACGCCTGG GTAATGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTCGCCCAGGC TGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAA GTGCTGGGATGACAGGCATGAGACACCATGCACAGCCTAATTTTTAAATT TTTTTTTTTTTGAGACCGCGTCTTGCTCTGTCACCCAGGCTAGAGTTCAG TGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATC CTCCTGCCTCAGCCTCCCAAGTAGCTGGTATTACAGGCGTCTGCCACCAC ACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	462	0.0022	-1104	c.24 others(11): Show c.2493_*3596del	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding		2404		chr19	TogoVar
SRRM4_chr12_118976541_119168051	119025538	GGGTTCAA others(1097): Show GGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCATGTGCCACCATGACCAGCTAATTTTGTATTTTTAGTACAGACAGGGT TTCCCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCA CCTGCCTTGGCCTCCCAAAGTGCTGGGATCACAGGCATGAGCCACTGTGC CGGTCTCATATACGGATTTTACTAGGGGAACTGCCCAAAGGAGAAATGGG GAGGGAGGCTTAGAAAGCATCAGACCTCCATGAAAATGATCAGACCTTGA GCCAAGGAAAAAGGGGAGAAAGAAAGATTGGGCAAAAGCATCTTAGCCTG CTGTGCAGTTTGAGAAAGGTTTGGCAAGGCACTTTGGAAGCCCTTAAACC AAAGTTGGCCATCAGTGGAGTCCTATGTGTCCCTGCCTTAGAGTCACGGC CACCGAGCCATTGGCTGGAAGCAACCTGTGGGAGGTTTGATCTTCCACAA GGTCAGGGCTCCACATTGGAGGTCCTGGTGCCCTCTGTGGTTGAAGATCT GGGCGGTAGATTCTCATGGCCACCACATCTGGGTTTGGTTTTATTCTAGA GAGAATGGAAAGCCACAGAAGATTTTAAGCAATTTATGTCATGAAAAAAA TCACTCTGTGGCTGTGGAGGAGATAAGTAGGAAGGGTTCAATAATGAAAT TAAAAAAGAAATGTGAGGTGGAGCTGCTGGAGAGGTTCAGGAAAGAGATA ATATTGACCTAGACTTGGAAGGTGACAGGATCACATAGAGAAATGGACAA TTTGAAGTTATATTAAGGAGGCAAAATGCACAGAACTTGGTTCCTGTATG TGAGCGGTAAGAAAAAGGACTCAAAGAGGAAGTAACAGAGGACAAGGGCC ACATCTATAAGTGTCACTTGTGTGCTAGACACAGTGTATGTACAGTGATC TCATTTTATCACCACAAATATCCTTTTTCTAAATTAATTAATGTTTTTAA TTTTAATTTTTATTTATTTATTTATTTTTGAGATGGACTCTCACTCTGTT GCCCCAGCTAGAGTGCAATGGCGCGACGTTGGCTCACCACAACCTCCGCC TCCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0020 a0003c0003 a0008c0020	a0003c0003t0114 a0008c0020t0062 a0003c0003t0114 a0008c0020t0062	a0003c0003t0114g0197 a0008c0020t0062g0004 a0003c0003t0114g0197 a0008c0020t0062g0004	2	328	0.0061	-1104	c.131 others(19): Show c.131+43542_131+44645del	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(1097): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCT CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCC AACCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02129.hp1 HG02280.hp2 others(2): Show HG01123.hp1 HG02129.hp1 HG02280.hp2 HG02717.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0001c0001t0001 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0002t0001g0282 a0003c0007t0001g0011	5	314	0.0159	-1104	c.136 others(19): Show c.1360+5744_1360+6847del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TMIGD2_chr19_4287227_4307389	4293125	GGCTGATT others(1097): Show GGCTGATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT TTTGAGACAGTCTTACTCTGTCACCTGGGCTGGAGTGTAGCAGCGGTGCG ATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTCAAGTGATTCTCCTGC CTCAGTCTCCCTAGTAGCTGGGATTACAAGCCCCCGCTACTACGTCTGGC TAATTTTTTGTATTTTTAGCAGAGATGGGGTTTCACCACGTTGGCCAGGC TGGTCTCGAACTCCTGGCCTCGTGATTCGCCCGCCGTGGCCTCCCAAAAT GCTGGGATTACATGCATGAGCCACTGCACCCGGCCAATTTTTTTTTTTTT TTAATTTCAAACTGTCTTTTTGTTTGTTTGTTTGTTTTTTGAGACAGGGT CTCTCTCTGTCACCCAGGCTGGAGTACAGTGGGGAAACTATAGCTCACTG CAGCCTCCGCCTCCCAGGTTCAAGCAATCCTCACACCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGTGTGCCACCAAGCCAGGCTAATTTTTTTGTTG TTGTTGAGATGGAGTCTGGCTGTGTCGCCCAGGCTGGAGTGTAGTGAGGC AGTCTGGGCTCACTGCAATCTCTGCCTCCTGGGTTCCAGTGATTCTCCTG CCTCAACCTCCCAAGCAGCTGGGACTACAGGCACAGGCCACCACGCCTGG GTAATGTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTCGCCCAGGC TGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAA GTGCTGGGATGACAGGCATGAGACACCATGCACAGCCTAATTTTTAAATT TTTTTTTTTTTGAGACCGCGTCTTGCTCTGTCACCCAGGCTAGAGTTCAG TGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATC CTCCTGCCTCAGCCTCCCAAGTAGCTGGTATTACAGGCGTCTGCCACCAC ACCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0137 a0004c0005t0001g0137	1	436	0.0023	-1104	c.550 others(15): Show c.550+350_551-241del	TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding	4/4			chr19	TogoVar
VAV2_chr9_133756894_133997324	133827221	TGCTGTGC others(1097): Show TGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCG CTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCT GTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGC CCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCC ACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCAC TGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTG GGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAG GCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGC TGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTG ACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGAC CACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCA CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC CTACC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0033 a0002c0001t0001g0033	1	200	0.0050	-1104	c.449 others(17): Show c.449+5947_449+7050del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827312	GCTACTGC others(1097): Show GCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGC TGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTG CCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCT GACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCAC TGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTG AGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAG CACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTG GGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATC ACCAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0036 a0002c0001t0032g0036	1	200	0.0050	-1104	c.449 others(17): Show c.449+5856_449+6959del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
SLC35F3_chr1_233899676_234329511	234182898	CAATCATT others(1096): Show CAATCATTGGTCTTTTGTTTCTCTATTTTTCTAATCTTTTCTATATTAGG GATATTAATCCTTTGAGTTATAATTTACATTTTTAAAATTTTATTTGCCT TTTTACTTTGCTTAAGACTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTC ACTCTGTCACCCAGGCTAGAGTGCAGTGGCACAATCTCAGCTCACTGCAA CCTCCACCTTGCAGATTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAA CTGAGATTACAGATGCACACCACCACACCCAGCTAATTCTTGTATTTTTT TGTAGAGGCAGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCTTGA CCTTAAGTGATCTGCCCACCTCAGCCTTCAAAGTGCTGGGACTACACGCG TGAGCCACTGCACCTGGCCAGATTTTCTTAATGATACAAAAGTTCTTATT TTTATAGAATCATCTTTATAAGTTTTTTTCTGATTTTTTTCTGGATTTTG AAAGAAACCATTTAAGAAAATGCATATGGTTGTTTTTTACGTATGTAAAT ATTTCAGAGTGATGTATTCCAATTTTTTAAAGCAAATGAATTCTTATTTT GTCATTGTGAAAACCTAAGGTACTCAGGACTTGACATGAAATAGACCTTC AGTGAGTGTATATGCATAAATACGTAGCAGGCTGTATCCTTTTTCATTAA ACGATACTGTGTCGCTGGCCTGGTCGACTGAGTCCTTGGTAGCTCTATAT CCATATGTCATCAATGCCTGTATGCAGAGTTTATCTTTTGTCAGTTAAGG ACAAGCTGTACAGTGTGGCTCCCATTATTTAATAATGGTGACTATGACCC TGTAAATGTTCGTATCTCATTTTCATACGACTTCTGGTTCAAGTACAAAA TACCACGCTGTGGACCCATTCACAAAGCCATAAGGGTGCCTACCCCTGTC TTCCTCTCTCCATTCATTCATTTTTTGTTTAACAACATTCCTTTGTTGAA TACCTGCTATGTGCTAGACACCAGCAGAGCAGTTTACAATTTATTCTATT TATCTGTTAACCTACACTCATTGAGATCTTAAGAGACCTATCAGCTATAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00639.hp2 others(30): Show HG00423.hp2 HG00438.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02630.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18950.hp1 NA18960.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18994.hp1 NA19056.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0016 a0001c0003t0002 a0002c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0049 others(30): Show a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0003g0092 a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0009g0084 a0001c0001t0013g0112 a0001c0002t0002g0028 a0001c0002t0002g0131 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0014 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0005g0150 a0001c0002t0007g0025 a0001c0002t0016g0148 a0001c0003t0002g0001 a0001c0003t0002g0004 a0001c0003t0002g0005 a0002c0005t0001g0069 a0002c0005t0001g0114	33	158	0.2089	-1103	c.284 others(19): Show c.284-48516_284-47414del	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM235_chr17_78226631_78245987	78244884	CACTGCAA others(1096): Show CACTGCAACCTCTGCCTCCTGGGTTCAAGCACTTCTTCTGCTTCAGCCCC CTGAGTAGCTGGGATTACAGGCACGCACCACCAGGCCTGGATACTTTTTT GTATTTTTAGTAGAGATGGGGTTTGCTATATTGGCCAGGCTGGTCTCAAA CTCCTGACCTCAGGTGATCCACCTGCCTAAGCCTGCCAAAGTGCTGGGAT TACAGGCATGAGCCACCATGCCCAGCCTCTTTATTCTTTTTAATATTATC ACAAGTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGATGGA GTTTTGCCCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCA CTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCACATGCCATCATGCCTGGCTAATTTTGCAT TTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTC CTGACCTCAGGTGATCTGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTAT AGGCATGAGCCACCGTGCCCAGCCATTATCACAAGTTATTTATACTTCCT TTCTCTTGTTCTTGATCAGTCTCATTAGAGGTTTATCAATTTTATTACTC TTTTCAAAGAACTATCTTTTGTTTATCTGGATATTTTCTCTTGATTTATC TCCCTCTTCACTAATTCTCTCTCCAGCTGTGTCTCATCTACTATTCAACC TATCTACTGAGTTCTTAAGTTATCATATTTTTCAGTTCTAGAATTTCCAT GTGGCCTTCTTATAGTTCCAAGATTCCTGCCAAATTTTTTTTATCTTGAC TTATAATTCCTTGAATATTTTATTTTTTATTTTTTTGAGATGGGGGTCTC TCTGTGTCACCCAGGCTGGAATGCAGTGGCACAATCTTAGCTCACTGCAA CCTCCACCTCCTGGGAGGCTCAAGCAATCCTCCCACCTCAGTCCCCCATG TAGCTGGGTCTACAGGTGCCACATCTGGCTAATTTTTGTACTTTTAAGTA GAAACAGGGTTTTACCATGTTGCCCAGGCTGGTTTCAAACTCCTGGGTTC AAGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00558.hp2 others(18): Show HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG01070.hp2 HG02886.hp1 HG03453.hp1 NA18939.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA19007.hp1 NA19058.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0003t0004 a0001c0003t0010 a0001c0011t0004 a0004c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0002g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0002g0006 a0001c0001t0002g0043 a0001c0001t0004g0003 a0001c0001t0004g0064 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0003t0004g0140 a0001c0003t0010g0115 a0001c0011t0004g0170 a0004c0012t0001g0001	21	468	0.0449	-1103	c.50 others(11): Show c.5093_*6195del	TMEM235	ENSG00000204278.14	transcript	ENST00000421688.7	protein_coding		3898		chr17	TogoVar
AKR1C4_chr10_5191837_5223949	5207929	CTTGAAAT others(1095): Show CTTGAAATGGTCTCTTCTCCCTAGCCCACAAATATTTTGGTACTATCATT TTGGGAAGTCAAGCAAGTATAGTAAATTAACCAGAACACAATTGTGGAAA TTTGATGCAAAGTTAGTGAAATAAAACTTTAAAGAGTGAAAAAAAGGAAA GTTAACTATTTATGGAGATAACTAGTTATGGTGGATGAAATCAACACTGA GGAAAATTTAGCAGAACATTGAGCTGACCTTTTGACTGTCCACATCTTAT TCTGATGCACTGCTTTGCTTTCTGTCATCAAATCAACTGTTTAGAAGCAT TTATTCTGCGTATGGTTCTGTTCTCTTACTCTTTTACTACTTAGAGTCAA TGAGTACAGGTCTACAGTTGAAACATGTATTTAAAATTTATGTATTTGGT AATATAATACAAAATCATGATTTTCAATTAAAAAGGAATTAATGTGGTTT TAATATTAGTTTTACTCAATTATTATTATGACAACTTTCAAATTTTAGAG AAATTTGAAGGGATAATACAGGACATCTACATGTTATCATCTATTTCCAA AATTGTTGACACTTTGCCAACCTGGCAAGTATATAGGCATATATGAGTAT ATCTGCATCAATACAGGTAGTATTTGTTGAATCTCTTCAAAATATATTCC AATGATCACAATTCACCTCTACAGACCTTTCAAAGCATGGCATAGGAATG AAGATATTCTCCCAGTAACAGTGCAATTATTATATCTAAGGAAATAACAA TAATGCCCTCATATCATTGATTATCCAGTCAGTATTCATATTTCCCATTG TTTTATTGAAAGATCTCTTATACCTCTATTTTAACCATAAATAGAAGATG AAAAAATTTAAAGATACCATAAGATATTAAGTACCTGAAATTATACCTAA TAAAAGATGTGTATGACCTCTAAGGAGAGAATTATAAAACAATGAAGAAT AAATAAAAGATGTATCATGAAAACAAAAACAAAAAAAAAACATCCAATTG TGACTTTCAGTTTGTTGTACTTTGGTCCGTTAACTTGTTGTTCCAAGTTT TTAAAATTTAAGTTTGTGTAGATTAGAAGTTATACTTGAATGCTTTATAT CAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG02280.hp2 others(5): Show HG01255.hp1 HG02055.hp1 HG02280.hp2 HG02559.hp1 HG02965.hp1 HG03453.hp1 NA19030.hp1 NA19030.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0009 a0001c0001 a0004c0006 a0008c0009	a0001c0001t0001 a0004c0006t0001 a0008c0009t0001 a0001c0001t0001 a0004c0006t0001 a0008c0009t0001	a0001c0001t0001g0067 a0001c0001t0001g0216 a0001c0001t0001g0217 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0216 a0001c0001t0001g0217 a0004c0006t0001g0215 a0004c0006t0001g0218 a0004c0006t0001g0220 a0008c0009t0001g0219	8	434	0.0184	-1102	c.570 others(17): Show c.570+1533_570+2634del	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding	5/8			chr10	TogoVar
MILR1_chr17_64444115_64473643	64463255	ACCTCAGC others(1095): Show ACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACTCA GCCCAGTTACTGCTTTTCATTCCTCACGTCTTATGGCCACCACTGGTTAA GCCTTCAAAGTGGTTTTTTCATTTGGTACACGAGTGCAGAAGGATATGAA GATTTACACAAAAGACAGTTTGGGTCTCAGCACTGGCCCCCATCAGCAAG CTGAGGGCTGTTGGACAAGCCCCTCAGGCTGTTGCTTCTGAGCCTCAGTG TTCTGAGTTGTGGAATGGGCCATGGAGATATTGTCAGAACTGGCAAGAGA ACCAATTGAGAACCATCTCCAGAGAGTCACAACTCAGAGAAGTCAGGGAC TCAGTTGACATAAAACTTGAACACAGAGGTCACAAGTTATACATCTGATG CATCTTTAAGATTTTATTTTATTTCATTTCTTTTTTTTAGAGATGGGGCT TCACTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCCACCATAGCTCACTGT AACCTCCCACCTTAGCCTCCCTAGTAGCTGGGAATACAGGTATGCACCAC AACTCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCCGCTCACTGCAA CCTCTGCCTCCCAGGTTCAAGCGTTTCTCCTGCCTCAGCATCCTGAGTAG CTGGGATTACAGGCGCCCACCACCACGCTAGGCTAATTTTTGTATTTTTA GTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTTGAACTTCTGAC CTCGTGATCCGCCCACCGCGGCCTCCCAAAGTGCTGGGGCTGGTGAGCCA CCGCGCCTGACATTTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCAC TTCCATCACCCAAGGCTGGAGTGCGGTGGTGCAATCATGGCTCACTGCAG CCTTGACCTCCCAGGCCTCCTCCTGCCTCAGCTACCTGAGTAGTTGGGAC CACAGGCGCGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTGTAGGTT TCACCATGTTTCCCAGGCTAGTCTTGAACTCCTGGACTCAAACCATCCTC CTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	394	0.0025	-1102	c.764 others(17): Show c.764-2166_764-1065del	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
DAPK2_chr15_63902036_64051485	63904240	AACTCCGC others(1094): Show AACTCCGCTGAATCTCAGCTGTATCATATAAATGGGGCTCTCATTTCCCT TACAAGATTAGGAAGAGGACTAAATGAAATGTATGCAAAATGTTCCTATT GCAGAGCAGATTTTAAACAATTATTATGAGCTTCATTTTCTTTTCTTTCA CTCTTCCTCTAGCTTAGGGGTGGAGGATCACTGACCCATAGAGGAAAAAA TACTTTAAAAAAATTTCTCCCTAGATAATATAATCAACTGCTTTTTAGAT TAAGAACTGGGAACATGAATTTCATTCAGTAAGTAAATAAATGACTAAAA TATATACTTCAGCTATATATTATGAATTGCTAATGGACGAAGGGGGAGAG AAGAAGAACCAGTGGGAGAGGGAAAAACCGGAGGAGAGAAACTGTTAAGG GGAACTCACCAATGGTGTGTCTGCTTTTTGAAATGTCAATTAACCATTGT TCACAGATCTTCAGCTGCTCAATCCCTAAGCCTATTAATGTTTGCTTAGA ATGGGATCCTCTCAGCAGATCACCAAGGAAGACATTTTCCTTTGGGGTGC AGCTACAGTGAACAGAACAATATCAGGATGAAATCAAGTTGGGGACTCTA TGGAAGGAAAGTTCTCCAATCCTGTGCCAGATAGAATTCCCTGTGAGAAA CAAGTCCTCAAGTTAGCTCTTTCACGTGTACTTACTTTGATTGTCTGTGG AGTCCAGGGCCTGACTTTTCCTTCATAGAGATGTTGTAGTTCACCTCTTA CAGTATGGCCTTCATTTGCTTCCAAAATAAGGTTTTCACAAATAAATATG CGAAGGGAAAAGGCAAATGCAATCTAAGATTTGGAGTCAGGAAAGCTAGT GAGATTGACATCGAAATGCAACACACTAAAATATTTATATGGATATTTGT GAAATATTAATGCAGCATCCAACACTCACATAAGCACACACTCTGGGGCA GGAACCCTCCAGACCTCTTGAAAGAATTGCATTTGAACCGGCATGGCTTT CATCACTGGAATGTTCCATTTGCCTCTGAGAATGCTGTGGTCTCTTTCAG CCCTGTAAGTGTCAGCTGGTCAACACATCCTTCTTCAGAGCCAACAGAAC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02083.hp1 NA18612.hp2 others(1): Show HG00735.hp1 HG02083.hp1 NA18612.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0123 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0182	4	214	0.0187	-1101	c.31 others(11): Show c.3179_*4279del	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding		2795		chr15	TogoVar
PDE11A_chr2_177618244_178077777	177876277	CAGGTAGG others(1094): Show CAGGTAGGGACAGAACACCCCTCAAAGAAGATGCCCTCTGTCAACCCCAG GCTCCTGAAGTTAGTTCATCTTTAAGCTTGGCTCATCATTGTTCTCAGGT GAGCTTCGTGGTACCACCACCTAAAGGGTAAAGAGGAAGCCACCTTATTC AACAATCATTCTTGTGTGGACACTTCCTCTCTCACCTCTCCAGTGAAAGT AGCATACCAGTGCGAGAGTTGACCAAGGCTTATGTTGAGGGGGAATTTAT GGAACAGAAAATGTCAATGTAGTTTTTCTTATTATTAGCTAATATTGAGT TTACACTGTAAACCAGGCCCTACAGCAGAAGCTTTTTTGATTATTTCTTT ATTATAAATCTAAAGTAGAGAATTTTATACTCAGTCTATAGATGAGGAAA CTAACCCCTAATTTTTAAAAAGACTTACTCAGTTTCACACAATTAAATAA GGCAACTGGCATGAAAGGAATTCTCTCTGATGCTAGAGTGCTAGCTCTTT CAACACTACAAATGTTGAGTGAGAAATGCACTATTTCTGGCCCTTGTAGG GGTGGACGGAAACCTTTCCTTCTACCCTCTGAAGGTTTGCTGAAATAAAC TGACAATAGACAGATTAACAGGAGAACAAGCATACAAATTTACTAATGTG CAGAAGCACAGAAGCCATATAAAGTATGAGACTCAAAGGAGGGCCAGATG GTTGAAGCTTAAATAGCATCCTCTTTATAGGGGAGACGGACGGGGGATGT AGGCAATTTTGAGGGGTAGAAAAAAATTTCAGAGGAATTAAATGAGCCCA AAGAACAGACAATGACCAGGGACAAAGTTTCTCTGAGCTCTGGAGGAGGT GGCAGCAAGTTAGGGGTGGAACTTCACTGCAAACAAAGGTTATCTTTTTT TTTTTTTGGACAGGTTCTCACTCTGTCGCACAGGCTGGAGTGCAGTGGCC CAATCTCGGCTCATTGCAGCCTCCGCCTCCCGGGTTCAAGTAATTCTCCC ACCTCAGCCTCCCAAGTCGCTGGGATTACAGGGGCGTGTCATCATGCCCA GCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGG GT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01884.hp1 others(12): Show HG00735.hp2 HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02486.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0002c0015 a0002c0034	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(11): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0003t0049 a0001c0003t0052 a0001c0005t0015 a0001c0005t0047 a0001c0005t0064 a0001c0009t0016 a0001c0009t0027 a0001c0009t0062 a0001c0010t0008 a0002c0015t0001 a0002c0034t0006	a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 others(12): Show a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 a0001c0005t0047g0018 a0001c0005t0064g0016 a0001c0009t0016g0011 a0001c0009t0027g0001 a0001c0009t0062g0008 a0001c0010t0008g0061 a0002c0015t0001g0013 a0002c0034t0006g0169	15	170	0.0882	-1101	c.130 others(18): Show c.1303-1455_1303-355del	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	4/19			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765333	GGAGTAGG others(1093): Show GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGATTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG TGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG G	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0158 a0001c0029t0002g0158	1	412	0.0024	-1100	c.130 others(19): Show c.1307-2305_1307-1206del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBNDD1_chr16_89999871_90024456	90003326	TGGGACTT others(1093): Show TGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGTGGGACTTCTATGACTCCTTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTT TATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCT ACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCC GGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCT CCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTTTGACTCCCTCCCCCGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	412	0.0024	-1100	c.19 others(11): Show c.1909_*3008del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1544		chr16	TogoVar
DLGAP2_chr8_732628_1713476	1016299	CTGTGTGT others(1093): Show CTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGG ACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGT GACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAG GACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACT G	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-1100	c.73+ others(19): Show c.73+108342_73+109441del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB11FIP4_chr17_31386675_31543211	31503199	ATTTTTGT others(1093): Show ATTTTTGTATTTTTAGTAGAGACTGGATTTCAACATGTTGGCCAGGCTAG TCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGACCTCCCAAAGTG CTGGGATTGTAGGTGTGAGCCTGCAGTTCAGCCCGGCCTGAATTACCTCT TTAAAGACTATCTACAAATACAGTCACATTCTGAAGTACTAGGGATTAGG ACTTCAATATATGAATTTTAGAGGGAACAGGATTCAGCCCATAGCAGAAA AGGGTCTTGGGAACCTCCTTCAAGGGAAGGGGGAAGAGGAAGAGGAGGGT GGGCAAAGCCTGGCAGAGTAGAGGGGAGGCAGTTCTGCTTTCAGGCAAAG GCCCATGGGTGAGGGACCCCCTGGGGATGGCTCTTGACCACCTGCTCTAT TTGGAAACATTTCTAGGACTGTTATGACTGTGAATGGTCTTTTAGAGGCC GGATCATTCTTATGACCTCAGCCATCCATTGCCGCTTGATCTGATCATTT GAAACCAAGACTGCTCGTCGTTCTGTTCTCATTTCATCCTTGAAGCTCAT GTTGGTCTGTTCGGGCTCCAGTTTCTGTGGACTCTACCCGCTAGGATAGT ATTCTTTCAGGATGGCTTCACTTTTTCATATTCTTTTAAGTAGAGCCAGA CCTGTCAGGAAAAAGCGAATAAACCGATCAAAAAATCAGCAAAAGATCCG AATAGACATTTCTGTTATATGTAATTTATATAAATGGAAAACAGGCATAT GAAAGGTGCTCAACATCATTGATCATCAGAGAAATGCAAATGAAAACTAT AATGAGATATCATCCCATCCTAGTTAAAATACCTTTTATCCAAAAGACAG GCAATAACACTTTTCCTTCACTAGTTCAGCAAATTTGGGGCAGGCTATTT TTTCATGTTTCCATATAATGTTTACTACTACTTCTTTTTTTTTTTTTTTT GAGACATTGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGACCT CGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCCCCTGCCACA GCCTCCCGAGTAGCTGGAACTACAGGCACCCACCACCACGCCCGGCTAAT T	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02055.hp2 others(19): Show HG01243.hp2 HG01346.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0042 a0001c0001t0047 a0001c0001t0059 a0001c0007t0007 a0001c0007t0049	a0001c0001t0003g0300 a0001c0001t0007g0028 a0001c0001t0007g0035 others(19): Show a0001c0001t0003g0300 a0001c0001t0007g0028 a0001c0001t0007g0035 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0056 a0001c0001t0007g0159 a0001c0001t0007g0162 a0001c0001t0007g0167 a0001c0001t0007g0178 a0001c0001t0007g0183 a0001c0001t0007g0307 a0001c0001t0011g0027 a0001c0001t0014g0033 a0001c0001t0015g0031 a0001c0001t0042g0262 a0001c0001t0047g0209 a0001c0001t0059g0057 a0001c0007t0007g0267 a0001c0007t0049g0276	22	310	0.0710	-1100	c.337 others(19): Show c.337-14430_337-13331del	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174233464	GTCCATGT others(1093): Show GTCCATGTGATCTCATTGTTCACTTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGATTTCCAA TTTCATCCATGCCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTG CATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATC ATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAATGC TGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGT CATTTGGGTATATACCGAGTAATGGGATGGCTGGGTCAAATGGTATTTCT AGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAAC TAGTTTACAGTCCCACCGACAGTGTAAAAGTGTTCCTATTTCTCCACATC CTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTGACT GGTGTGAGATGGTATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGC CAGTGATGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTT CTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGATTG TTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATAT TAGCCCTTTGTCAGATGAGTAGGTTGTGAAAATTTTCTTCCATTTTGTAG GTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTT AGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTT TGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAA TGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAA TCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATC CAGTTTCAGCTTCCTACATATGGCTATCCAGTTTTCCCAGCACCATTTAT TAAATAGGGAATCCTTTCCCCATTGCTTCTTTTTCTCAGGTTTGTCAAAG A	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01243.hp1 others(17): Show HG01069.hp1 HG01081.hp2 HG01243.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020	a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0005g0001 others(17): Show a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0005g0001 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0151 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0013g0152 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0156 a0001c0001t0020g0139	20	272	0.0735	-1100	c.542 others(17): Show c.542+2112_542+3211del	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABLIM2_chr4_7960327_8163813	7994067	CCAGGGAA others(1092): Show CCAGGGAAGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGC ATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGT AATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA TCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAAC AGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAAT TGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAA CTACCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCA ACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAA ACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGG ACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACAC ATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAAC CACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(109): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19081.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0002c0005 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0030 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0006 a0001c0003t0007 a0001c0003t0033 a0001c0004t0003 a0001c0004t0007 a0001c0010t0008 a0002c0005t0002 a0004c0009t0002	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0063 others(109): Show a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0219 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0311 a0001c0001t0001g0318 a0001c0001t0002g0010 a0001c0001t0002g0077 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0213 a0001c0001t0002g0230 a0001c0001t0002g0263 a0001c0001t0002g0310 a0001c0001t0003g0012 a0001c0001t0003g0121 a0001c0001t0003g0166 a0001c0001t0003g0190 a0001c0001t0003g0197 a0001c0001t0003g0244 a0001c0001t0003g0255 a0001c0001t0003g0268 a0001c0001t0004g0148 a0001c0001t0004g0163 a0001c0001t0005g0009 a0001c0001t0005g0084 a0001c0001t0005g0207 a0001c0001t0005g0294 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0007g0132 a0001c0001t0008g0116 a0001c0001t0011g0254 a0001c0001t0013g0093 a0001c0001t0013g0094 a0001c0001t0014g0038 a0001c0001t0014g0291 a0001c0001t0016g0233 a0001c0001t0017g0203 a0001c0001t0025g0198 a0001c0001t0030g0099 a0001c0001t0032g0320 a0001c0002t0001g0060 a0001c0002t0001g0088 a0001c0002t0001g0105 a0001c0002t0001g0139 a0001c0002t0001g0156 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0196 a0001c0002t0001g0266 a0001c0002t0001g0273 a0001c0002t0001g0305 a0001c0002t0002g0055 a0001c0002t0002g0129 a0001c0002t0002g0290 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0003g0026 a0001c0002t0003g0045 a0001c0002t0003g0167 a0001c0002t0003g0200 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0245 a0001c0002t0003g0281 a0001c0002t0004g0044 a0001c0002t0004g0075 a0001c0002t0005g0029 a0001c0002t0005g0082 a0001c0002t0005g0107 a0001c0002t0005g0140 a0001c0002t0005g0292 a0001c0002t0005g0316 a0001c0003t0001g0015 a0001c0003t0001g0066 a0001c0003t0001g0101 a0001c0003t0006g0106 a0001c0003t0006g0155 a0001c0003t0006g0199 a0001c0003t0007g0218 a0001c0003t0033g0321 a0001c0004t0003g0016 a0001c0004t0003g0257 a0001c0004t0007g0131 a0001c0010t0008g0252 a0002c0005t0002g0096 a0002c0005t0002g0097 a0004c0009t0002g0191	112	322	0.3478	-1099	c.161 others(19): Show c.1619-2239_1619-1141del	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	16/20			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288799	GTCCCTGT others(1092): Show GTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0158 a0005c0011t0001g0158	1	290	0.0035	-1099	c.166 others(17): Show c.1662+765_1663-371del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS13B_chr8_99008274_99882580	99014116	TTTTTTTT others(1092): Show TTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTTTGTCGCCCAAGCT GGAGTGCAGCTGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCGGGACT CAGGCAGTTCTCCTGCCGTAGCCTCCCTAATAGCTGGGATTACAGGCGCG CACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTTAGGTGATCCGCCCG CCTCAGTCTTCCGAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCCGG CCTGCATAATTTTTAAAAATAGTTTGTTCCCAGTTTTGGTATATTAGAAT GGGATTACTTAAAGTTGCTTTGACAGAAAGACGATTTCATTGTTCATGTC AGAATTGTTCGGTCTACTTACTCAATTTTCAAGCATTATGAATGTGCTAA TTTATGTTGTCAAAATTCTGTATGAGCCTGGAAAACATCACATTCTCATT CTCCTTTTTGGGCAATGGAAGGGTTTGAAAGCCAGCAGGAAGGGTGGCTG GCTTGTGGGGGTCGAGGAAAAAAAGACAAAAAAAAAAAAAAAAAAGAGCA GATTCAGATCATGAGGAAAGATGACATTTCCCACGGCATCCTCAGAGTGT TGAGTAGATACATTGAGAATGGCAGTAAAATTGGAAACTTCTTTATTAAT CGTTTTAGTTTCTTTTAACATGAGATTTGTCTGATGCAAAAGAACCGTAA CTTCAAAGATCACATATTCATTAATTCATTTATTACATTTATTAGTAACA TGCCAAGAAATTCTGTTAGGCTTGAGGATCTGTGCAAGCTCAGAAGAGTC AGAGACCAACTGCTTTTTAGGAGATAAGGGAAGACTTAATCTGACAGTGA TGGTTATTTATAATTTTTAGTTATAGTCCACAGCCTCTTTTATTACTCTT TTATTAAGTCAATCTAGACTTAGCACTAAGAAATAATACTCCTGGCTGCT TCTTTTTCCTCTTCCCAAGGTTAGTTGAGTGGCTTAATATTTAATATTTT CATTTTATTTTATTTTTTAATGAGCACAAATCCCAAGTGTAACAGCTCAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp1 HG01517.hp2 HG00323.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009	a0001c0002t0001g0047 a0001c0002t0002g0046 a0001c0002t0009g0045 a0001c0002t0001g0047 a0001c0002t0002g0046 a0001c0002t0009g0045	3	134	0.0224	-1099	c.147 others(16): Show c.147+205_147+1303del	VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	2/61		INFO_REALIGN_3_PRIME	chr8	TogoVar
ACAP3_chr1_1287391_1312930	1288228	TCTGCTCC others(1091): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCT CCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	295	0.0034	-1098	c.42 others(11): Show c.4238_*5335del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4162		chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	147314405	TCACTGAA others(1091): Show TCACTGAAGTTAAATACAATTAGTGCCAAAGTTACTATGGCATCATTCCT CTGTAGAACTTAATCTATAATAACCAGTAAGTTCACTACCTCACAATTGG GAAGAGAGACCTTCTCTGTTTTTAGACACCCTTATTAGATCAGTATGCAA ATATAAAATTTGAGTAAAGATATTCTCTGCCAGCATTGGACTATATGGTA TTATTTCCAGGAGAAGCTACATGCTTCAAAAAGTCAGCAATAAAAAAAAA AATCCTTTAATATCTTTGGAACTTTTCCTATTATCTATGGGCTATTGAAC AAAGAGATGGACTCAAGGATTCCATATGTATACATGATTTTAGGTTTAAT ATTTAAAATAAAAGAATATTTGAAGGGCAGAAAATACATGTAAAGGGGGA ATTGCCCCTAGTAAATATATAGTCAATGTTATATGTAGAAAAAAATGTTG GAAGATCAAAAGAAGGAAAAAATTCAATTGGGCTTTAGGGTGGAAATGCA AGCTATCAGGCTGAATGAAGCAGACGGGTAATAACCACTATGTAAAAGCT TAGAAGAAATAGAAATAGTTCTACTATTTGCTAGCCTAGTGCAAAAGTTG ATTCGAAGAGCAGTGGGCAGAGATTTTGTGTGTTTGCTAAGATAATACAT GTTTCATACCAGGCTTTCACACTTTAATGTCCTTAAGAACCTTCTAGGGT ACTTTACAAAAAAAAAAAAAAAAAAGTCTTTGGCTGCCTTCTTAGTAAAA TTCTGATTCAGTAGGTATGAGGTTGGGCCCAGAAATATGCATTTTAAACA GATTTTCTTTTTTTCTTATCATTTTATTGGCCAAGAAATCATATGCTATA AAATTCACCATTTAAAGTGAATAACTTGGTGTGATACTCCGAATATTCAC AGAGTCTTGTAACTATCACCACAATCTAATTTTCGGCCATTTTCATGACC CCAAATAGAACCCCAAAACTATTAGAAATCACTCTGAATTCTTCCACAAA ACCCCAAATCGTAGGCAACCACGGCAACCACGAATCTACTACTTCCTGTC TCTATGGATTTGTTTATTCTGGACTTTTTTTTTTTTTTTTTTTTTGAGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0028 a0001c0006t0009g0028	1	40	0.0250	-1098	c.149 others(21): Show c.1498+14118_1498+15215del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK8_chr9_209865_470255	320371	TCAGAGAT others(1091): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACC GAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTC AAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGA TGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCT GTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAA GCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACAC TCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACC TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTG GGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0107 a0002c0107	a0002c0107t0001 a0002c0107t0001	a0002c0107t0001g0073 a0002c0107t0001g0073	1	256	0.0039	-1098	c.827 others(17): Show c.827+3365_828-4081del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
NOC4L_chr12_132139457_132157468	132149605	TGCCGCCG others(1091): Show TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	294	0.0034	-1098	c.901 others(15): Show c.901+717_902-272del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(1091): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0262 a0001c0001t0036g0262	1	330	0.0030	-1098	c.970 others(19): Show c.970-21767_970-20670del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
UNKL_chr16_1358205_1419704	1372990	GGCACACC others(1091): Show GGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCG TGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAG CAGCATGGAACACACCACACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACAC CGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAG CACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAG CAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACC GCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACAC CGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04184.hp2 HG03239.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0295 a0001c0001t0001g0150 a0001c0001t0001g0295	2	322	0.0062	-1098	c.126 others(19): Show c.1265-2477_1265-1380del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393135	GGGGAAGG others(1091): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0135 a0001c0002t0136 a0001c0002t0135 a0001c0002t0136	a0001c0002t0135g0073 a0001c0002t0136g0103 a0001c0002t0135g0073 a0001c0002t0136g0103	2	346	0.0058	-1098	c.181 others(21): Show c.1811-13930_1811-12833del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393190	GGGTGGTC others(1091): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	346	0.0029	-1098	c.181 others(21): Show c.1811-13985_1811-12888del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
PPP3CC_chr8_22436078_22546125	22478168	TTGAGATG others(1090): Show TTGAGATGGAGTCTTGCTCTGTTGCCCTGGCTGGAGTGCAGTGGCACGAT CTTGGCTCAGTGCAACCTATGCCTCCTGGGTTTTAAGCAGTTCTCTGCCT CTGCCTCCTGAGTAGCTGGGATTACAGGTGCTTGCCACCACACCCGGCTA ATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGG TCTTGGACTCCTGAACTCGTTATCCACCCACCTTGGCCTTCCAAAGTGTT GGGATTACAGGCATGAGCCACCGCGCCCAGCCTAAAACAACTTTTTAGTG ATAAATTATTATGCCAAATTATCTTCTGATTAACTCGTATAACTTAAAAT AGCTTTAAAATAGTTTTAATTCATTAATACATTCAATAAAGCACATAGAA AATATCAACAATGATTTTGTGCACAGACATCATGTTCAGAATATTTTGTG TTATGCATTTTTTTCCTCACTCATCAATAAAGTTTCTTGAGTGCCAACTT TATGGGCAGGCTGTGAGAATAAAATAAAGAATAAAATTTATGCTCTGTAG GAGCTTCCAGTCTAATAGAAAAGATGCACTTACGAATAGACTTTTGTTAT AATATAAAATGTGCTTCTTGAATTAACAGCGTTTTTCATATTAGGACTTA GCACAGTGCCTAACACATAGTAGGCACATAGTTAATATTTGTTGAATGAA TGAATGTTAATAAATCATAGTTTGTATTTAGCTTTATTCTGTTAATTAGA TGTTTGCTAACTTAAAGGGTTTTTTCTGCAATAACTTCAGAGATAAATGA ATCAAAACTTTAAGGTGACAATGACATTTTATACCAGTGTTAAAACCAAA GTATGAGATCTATCGAGTATTCATTGGAAGTCACTTATTTATAAACCACT AAGATTATAAACCTCTATAGGCTATAGCTTACTCTAACATGTTGCAAGTA TACACTTGAAAAATAATTTTTTAATAAATATTCTTGATAGCCATGAGTGT GATGTTTTTGTTTAATAGATGAAAATAAGGTCATGGAATTCTTATTAAAA TTTTTTGTTATAAATAATTTATTTTTAATAGAAAAGTTGGGAAATGCA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	326	0.0031	-1097	c.372 others(17): Show c.372+2545_372+3641del	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13			chr8	TogoVar
RTN1_chr14_59590983_59875776	59874679	TTATATAT others(1090): Show TTATATATTATGGTTATTAATCCCTTGTCAGATGGATAATTTGCAATTTT TTTCTCTTATTCTGTGGGTTGTCTCTTCACTTAGTTGTTTCTTTTGCTGT GCAGAAGATTTTTAACTTGATGTGATCCCATTTGTCCATTTTTGCTTTGG TTGCCTGTGCTTATGGGGTATTACTCTAGAAATCTTTGCCCAGACCAATA TCCTTGAGACTTTCCCCAATGTTTCAATGTTTTCTTGTTTTTGTTTGTTT GTTTGTTTGAGACTGAGTCTTGGTCTGTCACCCAGGGTGGAGTGCAGTGG CGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCAAATCTC TTACCTCTGCCTCTCGAGTAGCTGGGATTACAGGTGCCTGCCACCATGCC TGGCTAATTTTTGTGTTTTTAGTAGAGACGAGGTTTCACTATGTTGGCCA GGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCATCTCCGCCTCCC AAAGTGCTGGGATTACAGGTATGAGCCACCACATCTATTTGGCCCCCAGT GTTTTCTTTTAATGGTTTCCTAGCTTGAGGTCTTCAGTATAAGTCTTTCA TCTATTTTGATTTGATTTTTGTATACAACAAGAGTTAGGGGTCTAGTTTC ATTCTTTTGCATATGAATGTAATGTTGTCCCAGAACTATTTTTATTAAAG AGACTGTCCTTTCCCCAGTGTGTGTTCTTGGCACCTTTTTCAAAAATGAA TTCACTGCAGATTAATGGATTTGTTTCTGGCTTCTCTACTCTGTTCCATT GGTCTATTTTTTTTTATGCCAGTACCATGCTGGCATGGTTTTGGTTACTA TAGCTCTGTAGTACAATTCGAAGTAGGTAATGTGATTCTTCCAGTTTTGT TCTTTTTGCTCAGGGTGGCTTTTGCTATTCTGGGTCTTTTATGGTTCCAC ATAAATTTTAGGATTATTTTTCCTATTTCTGTGATGAGTATCATTGGTAT TTTGATAGATATTTGATTGAATCTATAGATTGCTTTTGGTAGTAGGGATG TTTTAACAATACTGACTCTTTCAATCCATGAACATGGAATATCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(38): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01099.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp1 HG02922.hp1 HG03195.hp1 HG03669.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp2 NA18955.hp1 NA18964.hp2 NA18965.hp1 NA18981.hp2 NA18983.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19068.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0009 a0001c0001 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(38): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0007g0172 a0006c0008t0001g0170 a0007c0009t0001g0171	41	172	0.2384	-1097	c.-51 others(11): Show c.-5146_-4050del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding		3904		chr14	TogoVar
TSPAN4_chr11_837852_872111	871014	GGAGTCTC others(1090): Show GGAGTCTCACTCTGTCGCCCAGGCTGGTGTACAGTCGTGCGATCTTGGTT CACTGCAACCTCTGCCTCCCAGATTCAGGTGATTCTTCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAAGCACACATCACCATGCCCGACTAATTTTTG TTATTTTTTAGTAGAGATGCGGTTTCACCGTATTGGCCAAGCTGGTCTCG AACTCCTGACCTCGTGATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGAAT TACAGGCGTGAGCCACCGCGCCTGGCCTCTGCACCCTTTCAAAGACTGAG TCTGCCTCAGTCTTGAACAATGACCACCCCATGCCCAGGACAGCAGCAGG CCCCTCCTGAGCACCAAGAGTCAGTGGTTTGAGAACCACCCCCTCCTTCA CACAGAGGACAGGCTCATTCCCAAGGTGCTGGGGACACGACTGCGGCTTC CAGGTCACGGGGCCCTGAGTGTGTGCACATCTCACACTGCACATTTGGGA CCAGGGCAGGTGGTTCCAGAAGCTTCTGGTCTCCACAGACAGGAGTCTGT GCAGGTGGAGGCAGCTGACAATGGAACATGACCAGTGCCTGCTGCGTGAG GACAGTGCCCCCCACGTGCCTGGGGCTGCAGCCTCAGGGAGGAGGCCTGG CGTGGGGCCTACAGCCCGGGTGCCATGTGGGAGGGGAGGACAGGCAGTAG GCAACTGCAGGGGCGCAGGGACCTGGGCCGTGTGGCATGGACATCCGCAG GATCCTAAGGGGTCACAGATGGACAGTGCAGGGTTTATCCAAGTGAGAAA TGGCCACAGGACCGCACCTCGAGCCACCTTTCTGCTCCTGCCCAGGAGTA GTGGGATGTTTGAGGCTCCCAAACGGGAAAGGCTGCTGTTGTCCTGAGCA GGGCAGAGTCCCCTTGACACTGGGAGCCTCTTCCAGACTAGGGCACATGT CACTTCAGAGCTGTGAATGGGAGCAGCTGCCACCCCCCCAGCAGTGCTCG ACAAAGTGCCAGACCCCATCGGGTAGCTCTGGCCTTTTGGGGCATGGAGG CTGCTCTGCAGACATCAGACCCCGGCAAACACATGGCAGGGAGGGTGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	394	0.0025	-1097	c.43 others(11): Show c.4385_*5481del	TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding		3904		chr11	TogoVar
TUBGCP2_chr10_133273635_133313872	133291278	TCCGTGTC others(1090): Show TCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCA TGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACC GTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGT GTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTG TGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTG TCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTC CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACT CCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGT CCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01123.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0208 a0001c0001t0001g0109 a0001c0001t0001g0208	2	284	0.0070	-1097	c.121 others(18): Show c.1214+124_1214+1220del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
CYP19A1_chr15_51203057_51343596	51226657	ATCATCTA others(1089): Show ATCATCTAGCCCCAGATTCCACCACTGACAAGGTTTCCAGGGTATGATTA TCTTTCTTTATGCTTGATAGTAATGTCAAGGGTTAGTCGTGTGTATTCCC CAACAGTTTCATTTCCAGCATGATGAGGTTAAGGGGGAAAACCACTGGAT AAGGAAGCTTGCAACTGGGTCTCAGCTCATTCATTACTCCCTATTTTGCC TGGGTGAAAATCATAACTTCGTTGGAACTTTATTTCCTCAACTGTTAAAA TCAGAGGCTAGATGACAGATATGGTCCCTCTCAGTTCTAAAATTATCTAA TTTCATTCACAAATTGCTTCCTGCTAAATCATCTGGGCTGTCAGTCAAGC ACTCAGCAAACACATTGTTTGGCCGTGTTTAAATCAAACATATGGGTGAC ATGCTAAATTCTTAACTGAAATTACTCTAAATATATAGCTACATCTCTTC TTTTGCCTATAAAATTGCTTTGCACATCAATAAGAAGAAAAGAATTTGTG GTGATTAAGAAATATAGGCTTCAGGGCTATATTCCGGGCTATCATTTACT AATGTTTGGACCTTGGGCAAGTTACTTAACCTCATTTTCTGTGAATTGTA GGAGATAACAACATTTACCACATGGGGCTGCCATTCAAGTGTTTAGAACA ATGGCTACAACAGAGTAAAGGCATAATGAATGTTAGCTCTTCCTCCTTTA TTGCAGTAGAATTCAAAATATGATTTCAGACTAGGAATGATAGCTCATGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTCAATCGTTTGACTCC GTGAGTTTGAGCCCAGCCTGGTCTCAAATATGGCGAAACCCCATCGCTAC AAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACATCTGTAGTCCCAG CTACTCGCGAGGCTGAGGTGGGAGAATCGCCTGAGCCTGGGAGGCGGAGG TTACAGTGAGCCAAGGTCGTGAGCCAAGGTCACTCCTGCCTGGGTGATAG AGTCAGAGCCTGTCTCAATAAATAAATAAATAAATAAATAAATAAAATAT TTTAAAAATATGATTTCAAAAAAGGCACATTCATAGACAAAAAAGAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	306	0.0033	-1096	c.451 others(15): Show c.451+26_451+1121del	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
FOXN3_chr14_89151177_89422233	89360723	ACCACCAC others(1089): Show ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACC ACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACTA CCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCTCCACCAC CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCT CCACCACCACCTCCTACCACTACCACCTCCAGCACCACCTCCACCACCAC CACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCA CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACC ACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTC CACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACC TCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	230	0.0044	-1096	c.544 others(18): Show c.544-11011_544-9916del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 2609 hits)