Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTN2_chr1_236681499_236769631	236756282	TGCCCGCT others(483): Show TGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTG CCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGC CCGCTGCCACCATTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCC CGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCG CTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGC TGCCACCGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCT GCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(87): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02148.hp2 HG02273.hp2 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18964.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0001c0025 a0001c0027 a0003c0012 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0021t0001 a0001c0025t0006 a0001c0027t0001 a0003c0012t0008 a0007c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0003g0149 a0001c0001t0003g0340 a0001c0001t0006g0135 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0019g0250 a0001c0001t0019g0252 a0001c0001t0025g0010 a0001c0002t0002g0220 a0001c0002t0002g0314 a0001c0003t0001g0129 a0001c0003t0001g0133 a0001c0003t0006g0132 a0001c0021t0001g0254 a0001c0025t0006g0121 a0001c0027t0001g0311 a0003c0012t0008g0092 a0003c0012t0008g0098 a0007c0023t0001g0332	90	344	0.2616	-490	c.215 others(18): Show c.2154+1112_2155-687del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756687	CGTTAGAA others(483): Show CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAG AACCCTGGTTATAGAGTATATACTACAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACCGTTAGAAC CCTGGTTATAGAGTATATACTACAGAGTGCCCGCTGCCACT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp2 HG02055.hp2 others(8): Show HG01109.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 others(2): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0007t0015 a0001c0011t0005	a0001c0001t0009g0073 a0001c0001t0009g0091 a0001c0001t0009g0118 others(8): Show a0001c0001t0009g0073 a0001c0001t0009g0091 a0001c0001t0009g0118 a0001c0001t0009g0152 a0001c0001t0009g0187 a0001c0001t0014g0082 a0001c0001t0014g0084 a0001c0001t0014g0086 a0001c0001t0015g0116 a0001c0007t0015g0096 a0001c0011t0005g0100	11	344	0.0320	-490	c.215 others(17): Show c.2155-763_2155-274del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	82976331	GAGGGCCC others(483): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAG AGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACAAGG GCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTAT GGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCA GAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCT CCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCG GACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0247 a0001c0001t0014g0248 a0001c0001t0004g0247 a0001c0001t0014g0248	2	266	0.0075	-490	c.460 others(19): Show c.460-11075_460-10586del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CNN2_chr19_1021608_1044065	1033746	GAGCGTGG others(483): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGG TGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGT GGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACA CATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGTA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA20805.hp2 HG01123.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0004 a0001c0001t0005 a0001c0002t0004	a0001c0001t0005g0008 a0001c0002t0004g0077 a0001c0001t0005g0008 a0001c0002t0004g0077	2	390	0.0051	-490	c.390 others(17): Show c.390+1065_390+1554del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034445	GGGGAGCG others(483): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTC TGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAG CGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGAC CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGG ACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGT GTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02818.hp1 others(1): Show HG01109.hp2 HG01891.hp1 HG02818.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0086 a0001c0001t0006g0090 others(1): Show a0001c0001t0006g0009 a0001c0001t0006g0086 a0001c0001t0006g0090 a0001c0001t0006g0175	4	390	0.0103	-490	c.391 others(17): Show c.391-1667_391-1178del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18736297	TGCAGGGT others(483): Show TGCAGGGTCAAGGGGTGCGAATCCCCGGGGTCCTGGTCAGCTCCCAGGAT CCAGGATCCAGGTACATCCTGTGCATTCGCTGGGCTGGAGAAAGTGTTCG CTCCCCACCTTCCTCTTGTAGGGCCATGCCTCAGGCTGAGGTGCCTGCTG CCTCTGCTCTCAGGCAGTCTCTGTGCTTTCTTGAGCCTCAGTTTCCCCAT CTGGACTGTCAGGGGAGGGGCTGTGCAGAGGGCGGCCCCTTGGAGGAGGC TCAGTGCTGGGCAGCGGTGGGCCCAGGGGGAAGAGCCTTCTGGTACAGGC AGCACCCGTGCAAAGGCCCGGAGGTAGCGACTGGTGGCTCCGGGAGGAAG CATGTGAGCTGGAGCCTATGGTCATGGAGAGTGGAGACTAGACTTTGAAG CCTAGAGGTGGAGAGGGGGGGAAACTGAGGCCTGACTGGCACAGACAGCA CTTCCCTCCCTGGCCCCCCCACAGGGAGGCCCTGGGTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02965.hp2 HG02630.hp1 HG02895.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0135 a0001c0001t0009g0124 a0001c0001t0009g0244 a0001c0001t0001g0135 a0001c0001t0009g0124 a0001c0001t0009g0244	3	274	0.0110	-490	c.127 others(17): Show c.127-6612_127-6123del	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13			chr19	TogoVar
DIP2C_chr10_269201_694668	322045	CTGTTAGA others(483): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	-490	c.392 others(19): Show c.3924+4471_3924+4960del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322290	CTGTTAGA others(483): Show CTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTT AGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGA ACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAA CAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	88	0.0114	-490	c.392 others(19): Show c.3924+4226_3924+4715del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
EIF2S2_chr20_34083309_34117243	34100500	GTATCTAT others(483): Show GTATCTATTTTGTGTGTGCCTACATCCTGAACTGGGACAATGGCTACAGT CATTTCAGAAATCTCATTAGCGTACCAAAGACCCTGTTATCACTTCGGAG ATTCCAAGGATTTTAGCAGTTGTGAGCCAAGAACGTAAAGAACAAATATT TATTTTTTATTATATGACAGTCAGCCTGGCACCAGTCTGTGGCGTGGTCT TTGGGCATCACTCCAATAGATGACATTATCAAAGAGGGAAAGGCAGAAGC CATGGGGAATTAGGATCAAGTGATGGAATGGAATGGAAACAAAGTAAAGC TTGACCCCAAGATTAGTTGCCAGAGGCATGGATGTAAACAGGGCATATTA AAACCTAGAAATGAGTCATAAACATCCCAGAAGAGCAGAAAAGGCCAGTC TCAGTTTCCAGCTTTCTGATTTCTCCTTCCTTCTACCAGCTTATCCAGCT CCCTATCCTGAACTGTGCTGTCAACCTTACTCATTCATTAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	362	0.0028	-490	c.298 others(17): Show c.298-2357_298-1868del	EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding	3/8			chr20	TogoVar
GALNS_chr16_88808734_88861947	88831374	GGGGTGCG others(483): Show GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGA GGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGG CCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTG CGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAG CGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGC ACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGG GAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGA GGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGG TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAG GGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGCACA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	404	0.0025	-490	c.100 others(17): Show c.1002+134_1002+623del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
HDAC4_chr2_239043168_239406020	239069209	GGAGTCAC others(483): Show GGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGG GAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGG AGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGA GTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAG TCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGT CACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAGTC ACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCA CAGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCAC AGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACG GTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02165.hp1 NA19057.hp2 others(1): Show HG00673.hp1 HG02165.hp1 NA19057.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0002 a0001c0002t0006 a0002c0013t0002 a0001c0002t0002 a0001c0002t0006 a0002c0013t0002	a0001c0002t0002g0162 a0001c0002t0006g0234 a0002c0013t0002g0157 others(1): Show a0001c0002t0002g0162 a0001c0002t0006g0234 a0002c0013t0002g0157 a0002c0013t0002g0194	4	242	0.0165	-490	c.275 others(18): Show c.2751-1092_2751-603del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239069266	GGTGCAAG others(483): Show GGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACG GTGCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGAGTCACGG TGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGT GCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACGGTG CAAGCCAGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAGTCACGGTGC AAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCA AGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACAGTGCAA GCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAG CCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACGGTGCAAGC CAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGGAGTCACA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18946.hp1 HG02071.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0001t0008 a0001c0002t0006	a0001c0001t0008g0166 a0001c0002t0006g0226 a0001c0001t0008g0166 a0001c0002t0006g0226	2	242	0.0083	-490	c.275 others(18): Show c.2751-1149_2751-660del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(483): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	414	0.0024	-490	c.-28 others(11): Show c.-2881_-2392del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052507	GGGGGTTA others(483): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01175.hp1 others(36): Show HG00609.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp1 NA18906.hp2 NA18946.hp1 NA18972.hp2 NA18999.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19081.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0062 a0001c0001t0070 a0001c0001t0080 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 others(19): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0006g0002 a0001c0001t0009g0002 a0001c0001t0012g0001 a0001c0001t0016g0001 a0001c0001t0018g0001 a0001c0001t0024g0001 a0001c0001t0025g0002 a0001c0001t0028g0001 a0001c0001t0031g0008 a0001c0001t0039g0002 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0062g0014 a0001c0001t0070g0001 a0001c0001t0080g0002 a0001c0002t0001g0001 a0001c0002t0002g0002 a0001c0002t0007g0001 a0001c0002t0010g0001	39	414	0.0942	-490	c.-27 others(11): Show c.-2751_-2262del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2595		chr17	TogoVar
IRS2_chr13_109747695_109791583	109765495	AACTCCCC others(483): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCA ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGATCCAA CTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAAC TCCCCACCAAGCATGTAGATATCCCAGCCTCCTCCACCTTGGCTCCAACT CCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTCCTC CCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCC CCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCC CACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCC ACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCTCCTCCCCA CCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	398	0.0025	-490	c.401 others(19): Show c.4013-9677_4013-9188del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
PLCXD1_chrX_276381_308356	297261	ATTATTCT others(483): Show ATTATTCTGTCTATCACATGGGGATCAGGACGTGGACATCTTTGGGGACA TTATCCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCAT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATT ATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTA TTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTAT TCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTC TGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02056.hp1 NA18948.hp1 others(2): Show HG01496.hp1 HG02056.hp1 NA18948.hp1 NA18969.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0029 a0001c0001t0030 others(2): Show a0001c0001t0009 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0009g0067 a0001c0001t0029g0019 a0001c0001t0030g0062 others(2): Show a0001c0001t0009g0067 a0001c0001t0029g0019 a0001c0001t0030g0062 a0001c0001t0031g0066 a0001c0001t0032g0058	5	176	0.0284	-490	c.734 others(17): Show c.734-1811_734-1322del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD1_chrX_276381_308356	297506	GTTATTCT others(483): Show GTTATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACA TTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGT TATTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATT ATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTA TTCTGTCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTAT TCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATT CTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTC TGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCT GTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTG TCTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACA	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0159 a0001c0003t0002g0159	1	176	0.0057	-490	c.734 others(17): Show c.734-1495_734-1006del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PXDN_chr2_1626887_1749515	1703038	GCAGCTCC others(483): Show GCAGCTCCAGGTGAAGGGAGGGCAGCTCCAGGTGAAGGGGGGCAACTCCA GGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGACAGCTCCAGGTGAAGG GGGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGCGGGGGACA ACTCCAGGTGAAAGAGGGACAACTCCAGGTGAAGGGGGGGGCAACTCCTG GTGAAGGGGGGGCAACTCCAGGTGAAGGTAGGGGGCAACTCCAGGTGAAG GTAGGGGACAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGAGGGC AACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGAAGTGGGGGACAGCTCC AGGTGAAGGAGGGACAACTCCAGGTGAAGGAGGGACAACTCCAGGTGAAG CGGGGGACAACTCCCGGTGAAGGAGAGACAACTCCAGGTGAAGGGGGGGC AACTCCAGGTGAAGGGGGGACAACTCCAGGTGAAGGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG02738.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0028 a0001c0003t0002g0027 a0001c0001t0002g0028 a0001c0003t0002g0027	2	322	0.0062	-490	c.201 others(18): Show c.201-10394_201-9905del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
SLC12A7_chr5_1045384_1117063	1047303	AGTGTGTG others(483): Show AGTGTGTGAATGAGTGGGTTAGTGTGTGAATGAGTCGGTGGGTTAGTGTG TGAATGAGTGGGTGGGTTAGTGTATGAATGTGTGAATGGGTGAGTGTGTG AATGGGCAAGTTAGTGTGTGAATGGGTTAGTGTGTGAATGGTCGAACGAG TGTGTGTGTGAATGGTTGTGTGAACGAGTGGGTTAGTGTGTGAATGGGTG AGTTCGTGTGTGAATGTGGGTGTGTGTCGGGTTAGTGTGTGAATGTGTGA ATGAGTGGGTGGGTCAATGTGTGAATGAGTTAGTGTGAATAAGTGGGTTA GTGTGTGAACGAGTAGGCGAGTTAGTGTGTGAATGGGTTAGTGTGTGAAT GGGTCAGTGTGTGAGTGGATGTGTGAACGAGTGGGTGAGTTTGTGAATAG GTGTGTGAATGAGTGGGTTAGTGTGTGAATGGAGTTTGTGGGTGTGTGAA CGAGTGGGTTAGTGTGTGTTAGTGTGTGAATGGGTGAGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02451.hp2 others(4): Show HG00639.hp1 HG00741.hp1 HG02451.hp2 HG02897.hp1 HG03654.hp1 HG06807.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0017 a0002c0008 a0002c0023 others(3): Show a0001c0017 a0002c0008 a0002c0023 a0002c0025 a0004c0027 a0005c0021	a0001c0017t0004 a0002c0008t0004 a0002c0023t0004 others(3): Show a0001c0017t0004 a0002c0008t0004 a0002c0023t0004 a0002c0025t0004 a0004c0027t0004 a0005c0021t0004	a0001c0017t0004g0020 a0001c0017t0004g0021 a0002c0008t0004g0080 others(4): Show a0001c0017t0004g0020 a0001c0017t0004g0021 a0002c0008t0004g0080 a0002c0023t0004g0010 a0002c0025t0004g0061 a0004c0027t0004g0029 a0005c0021t0004g0084	7	118	0.0593	-490	c.45 others(11): Show c.4567_*5056del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3080		chr5	TogoVar
YWHAE_chr17_1339275_1405222	1350119	ATTTTGTA others(483): Show ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGT CTCGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGC TGGGATTATAGGCGTGAGCCACTGCACCAGGCCGTATTACCCTATTTTAA GATGATCCATTTCCTAAAACTGTACTCGACAACCAAGAATAAGGATTATC TTTAGTTCTGTACATAGACTGACAGGTAGTCTACTTTGATTAATCAACTC TTGGTTATCAGTGATAATGAGCTACAGAAGTAATCCAGACTTGGTTATGA GTTGGTATCAAATGTGTTTTCTTGTTTTGTTTCGTTTCTTTGAGACAGAG TTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGAGTGATCTTGGCTCAC TGCACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCTGA GTAGCAGGGATTACAGGTGCCCGCCACCACACCTGGCTAAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18945.hp1 NA19055.hp1 NA18939.hp2 NA18945.hp1 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0268 a0001c0003t0001g0274 a0001c0003t0006g0270 a0001c0003t0001g0268 a0001c0003t0001g0274 a0001c0003t0006g0270	3	373	0.0080	-490	c.715 others(17): Show c.715+3602_715+4091del	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	5/5			chr17	TogoVar
ZNF516_chr18_76352682_76500242	76393752	GGGTGGTC others(483): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18960.hp2 HG01928.hp1 NA18960.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0037 a0001c0001 a0013c0037	a0001c0001t0066 a0013c0037t0002 a0001c0001t0066 a0013c0037t0002	a0001c0001t0066g0190 a0013c0037t0002g0060 a0001c0001t0066g0190 a0013c0037t0002g0060	2	346	0.0058	-490	c.181 others(21): Show c.1811-13939_1811-13450del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF517_chr8_144793913_144815084	144811916	CTGGAAGC others(483): Show CTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTC AGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGAGTGGGAG AGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAA AGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGC AGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACTGAC AGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGAC AGGGTGGGAGAGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGA ATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTC AGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACAGGGACAATAAAGCTCAGCCAGGTGCAGACTGCAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-490	c.35 others(11): Show c.3522_*4011del	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1833		chr8	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235134	GGTGGGCC others(483): Show GGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTC CACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAA GCCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCC TCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGG GCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTC CAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGAC GGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTC CACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGA TGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0199 a0001c0008t0001g0199	1	362	0.0028	-490	c.-12 others(20): Show c.-127-10451_-127-9962del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
HEATR4_chr14_73473484_73563947	73515671	CAAAAAAA others(482): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGC AGTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACC AGCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTT TCTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGG CCAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTT GAAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCC TATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTT AGATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTT TTACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCAC TAGCCATCTTCCACATCAACAGTCATCAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0364 a0001c0004t0016g0364	1	368	0.0027	-489	c.121 others(19): Show c.1211-1926_1211-1438del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
SARDH_chr9_133658560_133743352	133668376	TCCCTCAG others(482): Show TCCCTCAGCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTCTCCCT TCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCT CGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTC CCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCC TCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCC TCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCT CCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0195 a0003c0003t0001g0195	1	262	0.0038	-489	c.249 others(19): Show c.2495+1719_2496-1507del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBK2_chr19_55523611_55542133	55536833	GCCCACCT others(482): Show GCCCACCTCTCTCCCGGAACCTCATACAATTCACACAACTGGGGACCCCC TGATTCTGTTTCCCTCACCCTCCACCGCTCTACAGCCTCCAGGTGCAGCC CAGGCTCCCCTGAGGGACCGAGGACTCGGGCCACCTGGTACAGTCACCCT CAGGTGCTGCCCACCTCAGGCCAGGGCACCTTGCCCACCTCCCAACCTGG GCTCAGACCTCCAGACCTCACCTCCTCCAAGGCCCTCCTGACCCTCCGGC CGCCGGCTGTGGTCAGTGCCCGGCACTTAGGGCTCATGCCAGCAGAGGCC TGCCTAGGAGCAAGACCCCGCCCCGACTTTGGGGGTCGTAAGGCCCCGCC CCTGGGCCCGCCCCTTCTGCCCCCACTGGGAGCAGAGCGACATCGTGTGA TGACTCCTGGAACTGGCTGTGGTCAGGTGAATACCCTGACCCAAGAGTTG AGCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCAGCCC	G G	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0055 a0001c0001t0045g0055	1	434	0.0023	-489	c.-27 others(11): Show c.-271_-3+220del	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	1/4			chr19	TogoVar
SBK3_chr19_55535656_55550543	55536833	GCCCACCT others(482): Show GCCCACCTCTCTCCCGGAACCTCATACAATTCACACAACTGGGGACCCCC TGATTCTGTTTCCCTCACCCTCCACCGCTCTACAGCCTCCAGGTGCAGCC CAGGCTCCCCTGAGGGACCGAGGACTCGGGCCACCTGGTACAGTCACCCT CAGGTGCTGCCCACCTCAGGCCAGGGCACCTTGCCCACCTCCCAACCTGG GCTCAGACCTCCAGACCTCACCTCCTCCAAGGCCCTCCTGACCCTCCGGC CGCCGGCTGTGGTCAGTGCCCGGCACTTAGGGCTCATGCCAGCAGAGGCC TGCCTAGGAGCAAGACCCCGCCCCGACTTTGGGGGTCGTAAGGCCCCGCC CCTGGGCCCGCCCCTTCTGCCCCCACTGGGAGCAGAGCGACATCGTGTGA TGACTCCTGGAACTGGCTGTGGTCAGGTGAATACCCTGACCCAAGAGTTG AGCCCTCCTCCTTCAGACCCAGGAGTCCAGGCCCCAGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	438	0.0023	-489	c.35 others(11): Show c.3524_*4012del	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding		3822		chr19	TogoVar
TNK2_chr3_195858364_195913551	195874845	TCCCCTCG others(482): Show TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAGCTCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGC CCACGCACGCTCCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACG CACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGATGGCGCCCACGCACAC TCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAG GCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAA GAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGC TCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACACGAAGCTCCCCT CGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02970.hp2 others(2): Show HG02486.hp2 HG02630.hp2 HG02970.hp2 HG03139.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0001c0034 a0002c0044 a0001c0017 a0001c0034 a0002c0044	a0001c0017t0006 a0001c0034t0006 a0002c0044t0006 a0001c0017t0006 a0001c0034t0006 a0002c0044t0006	a0001c0017t0006g0012 a0001c0017t0006g0013 a0001c0017t0006g0014 others(2): Show a0001c0017t0006g0012 a0001c0017t0006g0013 a0001c0017t0006g0014 a0001c0034t0006g0016 a0002c0044t0006g0015	5	372	0.0134	-489	c.125 others(19): Show c.1257-2864_1257-2376del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133291252	ATGTCCCT others(482): Show ATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTC CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGA GGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTC CCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	284	0.0035	-489	c.121 others(18): Show c.1214+758_1214+1246del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392743	AGGTGGAT others(482): Show AGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGG CAGGTGGCCAGGTGGGGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp2 HG02886.hp1 HG00639.hp2 HG02145.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0108 a0001c0001t0191 a0001c0004t0186 a0001c0001t0108 a0001c0001t0191 a0001c0004t0186	a0001c0001t0108g0106 a0001c0001t0191g0015 a0001c0004t0186g0124 a0001c0001t0108g0106 a0001c0001t0191g0015 a0001c0004t0186g0124	3	346	0.0087	-489	c.181 others(21): Show c.1811-12929_1811-12441del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283676	AACCCCCA others(481): Show AACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCACCCACCACC CAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGT ACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGA CAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGT CCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 HG02145.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0277 a0001c0001t0009g0085 a0001c0001t0002g0277 a0001c0001t0009g0085	2	354	0.0057	-488	c.735 others(15): Show c.735-883_735-396del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14			chr21	TogoVar
AGRN_chr1_1015120_1061116	1028569	GAAGGAAC others(481): Show GAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACG CCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGC CCACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCTCGTGG GCCAAGGGCGCCCACACCCACGCCACCCTCTCCGAAGGAACCGAGCCCCA GCCCCTCGTGGGCCAAGGGCGCCCACACCCACGCCACCCTTTCCGAAGGA ACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAGCCACGCCACCC TTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAGGGCGCCCACAC CCACGCCACCCTTTCCGAAGGAACCGAGCCCCAGCCCCTCGTGGGCCAAG GGCGCCCACAGCCACGCCACCCTCTCCCAAGGAACCGAGCCCCAGCCCCT CGTGGGCCAAGGGCGCCCACACCCACGCCACCCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG03471.hp1 HG02922.hp2 HG03225.hp2 HG03471.hp1	a0001 a0014 a0001 a0014	a0001c0007 a0001c0064 a0014c0058 a0001c0007 a0001c0064 a0014c0058	a0001c0007t0005 a0001c0064t0005 a0014c0058t0008 a0001c0007t0005 a0001c0064t0005 a0014c0058t0008	a0001c0007t0005g0180 a0001c0064t0005g0192 a0014c0058t0008g0195 a0001c0007t0005g0180 a0001c0064t0005g0192 a0014c0058t0008g0195	3	210	0.0143	-488	c.463 others(17): Show c.463+6164_464-6164del	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108116	TGTTCACC others(481): Show TGTTCACCACAGCCACCATGTCTCAGCAGCACCGTCCACCACAGCCACCA TGTCTCAGCACCGTTCACCACAGCCACCATGTCTCAGCAGCACCGTTCAC CACAGCCACCATGTCTCAGCAGCACCGTTCACCACAGCCACCATGTCTCA GCAGCACCGTCCACCACAGCCACCATGTCTCGGCACCGTTCACCACAGCC ACCATGTCTCAGCAGCACCGTCCACCACAGCCACCATGTCTTGGCACTGT TCACCACAGCCACCATGTCTCGGCACCGTTCACCACAGCCACCATGTCTC AGCAGCACCGTCCACCACAGCCACCATGTCTCGACACCGTTCACCACAGC CACCATGTCTCAGCAGCACCGTCCACCACAGCCACCATGTCTCGGCAGCA CCGTCCACCACAGCCACCATGTCTCGGCACCATTCACCACAGCCACCATG TCTCGGCACCGTCCACCACAGCCACCATGTCTCGGCACC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	326	0.0031	-488	c.-13 others(19): Show c.-136+7456_-136+7943del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
DOCK8_chr9_209865_470255	380035	GGGCTCAC others(481): Show GGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATC GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGG CTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGC ACTCTAGGAGGCTGAGATGGCAGGATCACTTGGAGCAGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01884.hp2 HG02145.hp2 others(2): Show HG01256.hp2 HG01884.hp2 HG02145.hp2 HG02630.hp2 HG03453.hp1	a0001 a0002 a0022 others(2): Show a0001 a0002 a0022 a0026 a0061	a0001c0030 a0002c0075 a0022c0150 others(2): Show a0001c0030 a0002c0075 a0022c0150 a0026c0074 a0061c0166	a0001c0030t0001 a0002c0075t0003 a0022c0150t0001 others(2): Show a0001c0030t0001 a0002c0075t0003 a0022c0150t0001 a0026c0074t0002 a0061c0166t0018	a0001c0030t0001g0065 a0002c0075t0003g0085 a0022c0150t0001g0179 others(2): Show a0001c0030t0001g0065 a0002c0075t0003g0085 a0022c0150t0001g0179 a0026c0074t0002g0202 a0061c0166t0018g0001	5	256	0.0195	-488	c.260 others(17): Show c.2605+464_2605+951del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1_chr20_64159452_64247253	64173836	CCTGCAGC others(481): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	223	0.0045	-488	c.-99 others(17): Show c.-99+9100_-99+9587del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR10A2_chr11_6858057_6879717	6860133	TTAAAACC others(481): Show TTAAAACCATCGGATCTCATGAGAGTAATTCGCTATCACAAGAACAGCAT GGGAAAGAACTTGCCCCCATGATTCAATTACCTCCTACTGGGTTCCTCCC ACAACATGTGGGAATTCAAGATGAGATTTGGGCAGGACACAGCCAAACCA TATCAGTTACTCTTTTCTCCCCTTTTCATACTGTACTCTTTGTAAAGAGG TCACCATGATAAGCCCACACTCAAAAGGTAGGGAGTAATGTTCCACCTCC TTATGGGCAAAGTAACTACATAAATTATGTTGAATTCTTCCAGACAGACT TGTTGACTCTTCCTCATTTATTTCTTTACTTAATCATTTATTTACATCAT ATATACTCATAAACATTTATTTTATATGTTGGCTTATAAACCAATACTAC CTTATTTGTTGCTCAAATATTCCGGCTTTGGCTACTGGGAGCTCTTCATT TGGTTTCTGTGTTCCTTTGACAAACCCAATAATGTGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01192.hp2 HG01891.hp1 others(32): Show HG01167.hp1 HG01192.hp2 HG01891.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 NA18939.hp2 NA18957.hp1 NA18959.hp2 NA18974.hp2 NA18984.hp2 NA18986.hp1 NA19000.hp1 NA19003.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19067.hp1 NA19078.hp2 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0002c0003 a0002c0005 others(3): Show a0001c0002 a0002c0003 a0002c0005 a0003c0001 a0004c0004 a0005c0008	a0001c0002t0002 a0002c0003t0004 a0002c0003t0010 others(11): Show a0001c0002t0002 a0002c0003t0004 a0002c0003t0010 a0002c0003t0021 a0002c0003t0047 a0002c0005t0017 a0002c0005t0020 a0002c0005t0030 a0003c0001t0046 a0004c0004t0015 a0004c0004t0018 a0004c0004t0040 a0004c0004t0041 a0005c0008t0021	a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0030 others(16): Show a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0030 a0001c0002t0002g0057 a0001c0002t0002g0058 a0002c0003t0004g0003 a0002c0003t0004g0059 a0002c0003t0010g0003 a0002c0003t0021g0028 a0002c0003t0047g0003 a0002c0005t0017g0040 a0002c0005t0020g0025 a0002c0005t0030g0037 a0003c0001t0046g0053 a0004c0004t0015g0067 a0004c0004t0018g0024 a0004c0004t0040g0029 a0004c0004t0041g0029 a0005c0008t0021g0028	35	468	0.0748	-488	c.-33 others(11): Show c.-3350_-2863del	OR10A2	ENSG00000170790.6	transcript	ENST00000641461.1	protein_coding		2923		chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(481): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0095 a0001c0002t0062 a0001c0002t0095	a0001c0002t0062g0222 a0001c0002t0095g0073 a0001c0002t0062g0222 a0001c0002t0095g0073	2	244	0.0082	-488	c.894 others(17): Show c.894-7690_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RABEP1_chr17_5277284_5391340	5367537	AGGATTAC others(481): Show AGGATTACAGGCGTGAGTCACCGTGCCCAGCCAAGGGTAAAACTTTTTTT TAAAAAAAGTATGGATAGCCAATTTCTGTATGACTTGGTGAAAAGATCCA CCTTTCCCCCATTGCTCTGTGTAGATTAGTTTCAGAACTATCTTCTGTTC AGTTGGTCTGTTTGCCTTTTTTTTGTGCTAAATTCTGCACTGTGATTTAT GTGAAATAAAATTTTCTCTCTTTTTTTTTTAAACCCGAGATGGAGTTTTG CTCTTGTTGCCCAGGCTAGAGTACAGGGTGCGTTCTGGGCTCACTGCAAC CTCTGCCTCCCGGTTTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGAATACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTACTTTT AGTAGAGATGGGGTTTTACCATGCAGGCCAGGCTGGTCTCGAACTCCTGA CCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00642.hp1 others(24): Show HG00609.hp1 HG00621.hp2 HG00642.hp1 HG01175.hp1 HG01361.hp1 HG01928.hp2 HG01943.hp1 HG02015.hp2 HG02074.hp2 HG03654.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18950.hp2 NA18954.hp2 NA18966.hp1 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18991.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19072.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0252 a0001c0004t0002g0002 a0001c0004t0002g0244 others(24): Show a0001c0001t0001g0252 a0001c0004t0002g0002 a0001c0004t0002g0244 a0001c0004t0002g0245 a0001c0004t0002g0246 a0001c0004t0002g0248 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0004t0002g0251 a0001c0004t0002g0253 a0001c0004t0002g0254 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0259 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0266 a0001c0004t0002g0267 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0002g0339	27	352	0.0767	-488	c.178 others(17): Show c.1786-821_1786-334del	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	423099	TCCTCCAG others(481): Show TCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCC TGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGA CCCTCACTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCC TCCCGCCCTGACCCTCACTCCCTGGTCTCCGGCCCCTCCAGCTCCTGGTC CTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCTCCCGCCCCTCC AGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCACTCCCTGGTCT CCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGCCCTGACCCTCA CTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGGGGTCCTCCCGC CCTGACCCTCGCTCCCTGGTCTCCCGCCCCTCCAGCTCCTGGTCCTGGGG GGTCCTCCCCCCCTGACCCTCACTCCCTGGTCTCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02258.hp1 HG03225.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0006	a0001c0001t0002g0079 a0001c0001t0003g0036 a0001c0001t0003g0071 others(2): Show a0001c0001t0002g0079 a0001c0001t0003g0036 a0001c0001t0003g0071 a0001c0001t0013g0073 a0001c0005t0006g0010	5	212	0.0236	-488	c.131 others(18): Show c.1310-1131_1310-644del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	10/12			chr19	TogoVar
SULF2_chr20_47652406_47790481	47710212	ATTTTTAG others(481): Show ATTTTTAGTAGAGATGGGGTGTCACTATGTTGCTCACGCTGGTCTGGAAC TCCTGGGCTCAAGTGATCCTCCCGCCTTGGCCTCCCAAGGTGCTGGGAAT ACACGCATGAGCCACCATGCCCACCATATTTTTACTGTACTCTATTAACA TGTTCACGTATGTTTAGATACACAAATACTTCCCATTGTGTTACCACCGC CTACAGGATTCAGTATGGTCACATGCTGTAGGGGGGTTTGTAGCCTAGGA GTAATAGGTCACGCCACAGAGCCTAGGTGTGTAGTAGGCTATGCCATCCA GGCGTGTAATGCACTCCATGATGTTCGCACAATGACAGAATCACCTAACG ACACGTTTCTCAGCATGTATCCCCATTGTTACGTGACACACGACTGTACA TTGCTTGGAACTGGCACATAGCAAGTGCCTACTAAGGGTTATATTTTCAT TATCCACCAATGGGCCCGTCCCCTGTTATAGCCAACTTC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02280.hp2 HG02809.hp1 others(2): Show HG01106.hp2 HG02280.hp2 HG02809.hp1 HG02818.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0032 others(1): Show a0001c0001 a0001c0002 a0001c0032 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0032t0022 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0032t0022 a0003c0005t0001	a0001c0001t0001g0167 a0001c0002t0001g0185 a0001c0002t0001g0186 others(2): Show a0001c0001t0001g0167 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0032t0022g0184 a0003c0005t0001g0074	5	364	0.0137	-488	c.416 others(17): Show c.416-8030_416-7543del	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
TMEM132D_chr12_129066726_129909025	129087961	GGGGTGTC others(481): Show GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATG ACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCA TGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCT CCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGTGTC CTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCATGACCGGGTG TCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACTGGG TGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCG GGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGAC CGGGGTGTCCTCCATGACCGGGGTGTCCTCTATGACCGGGTGTCCTCCCT GACTGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 HG02145.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0034 a0001c0002t0001g0052 a0001c0001t0010g0034 a0001c0002t0001g0052	2	94	0.0213	-488	c.144 others(19): Show c.1444-3747_1444-3260del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TNK2_chr3_195858364_195913551	195874573	AGAAGCTC others(481): Show AGAAGCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAG CTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCTCCCTCGGG ATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCG CCCACGCACGCTCCGAGGCACAGGAAGCTCCCCTCGGGATGGCGCCCACG CACACTCCGAGGCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACGCT CCGAGGCACAAGAAACTCCCCCTCGGGATGGCGCCCACGCACGCTCCGAG GCACAAGAAGCTCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAA GAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACT CCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00733.hp2 others(59): Show HG00408.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18963.hp1 NA18971.hp2 NA18978.hp1 NA18992.hp1 NA19007.hp1 NA19077.hp2 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0009 a0011 a0012 a0025	a0001c0001 a0001c0002 a0001c0013 others(12): Show a0001c0001 a0001c0002 a0001c0013 a0001c0070 a0002c0004 a0002c0008 a0002c0010 a0002c0023 a0003c0043 a0003c0046 a0006c0069 a0009c0028 a0011c0078 a0012c0045 a0025c0047	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0013t0001 a0001c0070t0001 a0002c0004t0001 a0002c0008t0001 a0002c0010t0001 a0002c0023t0001 a0003c0043t0001 a0003c0046t0001 a0006c0069t0001 a0009c0028t0001 a0011c0078t0001 a0012c0045t0001 a0025c0047t0001	a0001c0001t0001g0006 a0001c0001t0001g0244 a0001c0001t0001g0249 others(58): Show a0001c0001t0001g0006 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0002g0264 a0001c0001t0002g0305 a0001c0001t0002g0340 a0001c0002t0001g0011 a0001c0002t0001g0136 a0001c0013t0001g0277 a0001c0070t0001g0352 a0002c0004t0001g0131 a0002c0004t0001g0279 a0002c0004t0001g0282 a0002c0004t0001g0283 a0002c0004t0001g0341 a0002c0004t0001g0350 a0002c0004t0001g0357 a0002c0008t0001g0219 a0002c0010t0001g0024 a0002c0023t0001g0017 a0003c0043t0001g0025 a0003c0046t0001g0027 a0006c0069t0001g0280 a0009c0028t0001g0295 a0009c0028t0001g0344 a0011c0078t0001g0272 a0012c0045t0001g0009 a0025c0047t0001g0008	62	372	0.1667	-488	c.125 others(19): Show c.1257-2591_1257-2104del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
XRCC6_chr22_41616295_41669041	41666296	GGGCGCGG others(481): Show GGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGAG GGCGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACGTGGTG AAACCCCATCTCTACTACTAAAAATAAAAAAATTAGCCGGGTGTGGTGGT GGGAACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTT GAACCCGGAAGAAGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTT CAGCCTGGGCGACAGAGCGAGACTCTGTCTCAACAACAACAAAATTGTCA TTATTCCATAAATAATACAGTATGACAATTATTGACATAGCATTTACATT TTATTAGGTATCGTAAATTATCTAGAGTATAATTTAAAGTATCCGGGAGG CCGTGCGTAGTTCATATGCAAATACTGCGCCATGTTACATCAGGGACTTG GGCAACCTCAGATTTGGGTATCCGCATGGAGTGCCCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	3	324	0.0093	-488	c.24 others(11): Show c.2482_*2969del	XRCC6	ENSG00000196419.13	transcript	ENST00000360079.8	protein_coding		2256		chr22	TogoVar
ZNF516_chr18_76352682_76500242	76392841	AGGCAGGT others(481): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTA GTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0004 a0001c0001t0091g0004	1	346	0.0029	-488	c.181 others(21): Show c.1811-13026_1811-12539del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393350	GAAGGCAG others(481): Show GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAA GGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0017 a0001c0001t0077g0017	1	346	0.0029	-488	c.181 others(21): Show c.1811-13535_1811-13048del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCG1_chr21_42214140_42302244	42283665	AATGAGTG others(480): Show AATGAGTGGGGAACCCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTAC CACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGAC AGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTG TCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCC CCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAG TGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCC GCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCG AAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	354	0.0028	-487	c.735 others(15): Show c.735-883_735-397del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ASMT_chrX_1610059_1648081	1636879	ATCCTGAT others(480): Show ATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGA CAGTGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTG TCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02723.hp2 others(5): Show HG02109.hp2 HG02451.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0071 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0211 a0001c0001t0002g0144 a0001c0001t0002g0190	8	223	0.0359	-487	c.910 others(15): Show c.910+328_910+814del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG9B_chr7_151010151_151029494	151021918	AGATTACA others(480): Show AGATTACAGGTGTGAGCCACCACGCCCAGCCGCACTCTTACATTTTAAAG TTGTTCTCAGCTACAATTTCCTTCTTTTTTTTTTTTCCTTTTTATTGAAA CAAGGTCTCTCTCTGTTACCCAGGCTGTAGTGCAGCAGTAGAAACATAGC TCCTATCTCCCTGCCAAATAACGGCCCAGGTCTGGAACAGTTATTTGGTT GGTTGGCAAAGAGAACATTGCAATCCATGCTTCAGGGAGGAAGGTTGTGA AGGCAACAATGAAAATGAATCGTCTGCTGGGAGGGAGGAGGGTGTAGGGA TGCTGCAGTGATCAGAGACAGTCACTGTCTTAGCCTCCTGACTAGGCTTA GCTAGGACTGCAGGTACGCACCACCAAGCCCAGCTAATTTTTATTTTTTA TAGAGATGTGGTCTCACTTTGTTGCTCAGGCTGATCTCAAACTTCTGGCT TCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG00738.hp2 others(18): Show HG00544.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01358.hp2 HG01952.hp1 HG02071.hp2 HG02129.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp1 HG03239.hp2 HG03579.hp2 HG04228.hp2 HG06807.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0012t0003 a0002c0003t0001 a0002c0012t0003	a0002c0003t0001g0004 a0002c0003t0001g0050 a0002c0003t0001g0148 others(3): Show a0002c0003t0001g0004 a0002c0003t0001g0050 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0012t0003g0033	21	466	0.0451	-487	c.821 others(15): Show c.821+640_822-590del	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	4/13			chr7	TogoVar
ATP9B_chr18_79064394_79383283	79236752	GCACGGTC others(480): Show GCACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGTG TACACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCACTGT GTACACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCCCTTC CCCACTGTGTACACAGTCCGTGCACGAGTCAGTGTCCACACCTGCCCCTT CCCCACTGTGTACACAGTCCGTGCATGAATCAGTGTCCACACCTGCCCCT TCCCCACTGTGTACACGGTCCGTGCACGAGTCAGTGTCCACACCTGCCCC TTCCCCCTTCCCCACTGTGTACACAGTCCGTGCACGAGTCAGTGTCCACA CCTGCCCCTTCCCCACTGTGTACACGGTCCGTGCACGAGTCAGTGTCCAC ACCTGCCCCTTCCCCCTTCCCCACTGTGTACACAGTCCGTGCACGAGTCA GTGTCCACACCTGCCCCTTCCCCCTTCCCCACTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	298	0.0034	-487	c.110 others(21): Show c.1108-16549_1108-16063del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CFAP251_chr12_121913592_122008919	121993863	CGCCCGGC others(480): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCATC CGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCTCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0104 a0003c0003t0001g0104	1	354	0.0028	-487	c.300 others(19): Show c.3007-5765_3007-5279del	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)