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
ALDH3B2_chr11_67657155_67679623	67669859	CGTGTGTC others(457): Show CGTGTGTCTGTGTGTGTATGGGTGTCTGCGTATGGGTGTGTGTGTCCACG TGTGTCTGTGTGTGTATGGGTGTCTGCGTATGGGTGTGTGTGTCCACGTG TGTCTGTGTGTGTATGGGTGTCTGTATGTGTATGGGTGTGTGTGTCCACG TGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGTGTCTCTATGTG TATGGGTGTGTGTGTCCACATGTGTCTGTGTGTGTATGGGTGTCTGTGTG TGTATGGGTGTCTGTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGTGTC TGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGTG TGTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTATGGG TGTGTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTATGCGTATG GGTGTGTGTGTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	390	0.0026	-464	c.-24 others(19): Show c.-244-2688_-244-2225del	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1954952	CAGGTGCT others(457): Show CAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGATAG CCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTTTCTGGATGGGT AGCTAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGGA TAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGGAGG ATAGCCAGGTGCTCCCTGAAAGGAGGTGCACTCTCACTGTTTCTCTGGAT GGGTAGCCAGGTGCTTCCTGAAAGGAGGTGCACTCTCACTGTTCCTCTGG AGGATAGCCAGGTGCATCCTGGAAGGAGGCACACTCTCACAGTTTCTCTG GATGGGTAGCTAGGTGCTCCCTAAAAGGAGGTGCACTCACTGTGTTTCTC TGGATGGGTAGCTAGGTGCTCCCTGAAAGGAGGTGTACTCTCACTGTTTC TCTGGATGGGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0053 a0002c0024t0053	a0002c0024t0053g0178 a0002c0024t0053g0178	1	363	0.0028	-464	c.352 others(19): Show c.3521-1761_3521-1298del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1327247	GACAGACA others(457): Show GACAGACACATTCCATCCAGCTCCTCCTCTACAGGGACATTTCATCCAGC TCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTC CATCCAGCTCCTCCTCTACAGGCACATTCCATCCAGCTCCTCCTCTACAG GCACATTCCATCCAGCTCCTCCTCTACAGACATATTTCATCCAGCTCCTC CTCTACAGGGACATTCCATCCAGCTCCTCCTCTACAGGGACATTTCATCC AGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTCCTCTACAGGGACA TTCCATCCAGCTCCTGCTCTACAGGGACATTCCATCCAGCTCCTCCTCTA CAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTCCACCCAGCTC CTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTTCA TCCTGCTCCTCCTCT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	370	0.0027	-464	c.108 others(19): Show c.1081-1895_1081-1432del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
DENND2A_chr7_140513420_140645813	140531574	GGATCACC others(457): Show GGATCACCTGAGGTCAGGAGTTCAAGGCTATACTGACCAACATGGAGAAA CCCCGTCTCTACTAAAAATACAAAAAATACAAAAACAAAAAACGAGTCGG GCATGGTGGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG AGAATCGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGAATACGC CATTGCACCCCAGGCTGGGCAACAAACGCGAAACTCTGTCTCAAAGGAAA ACAACAACAACAACAACAACAAAACAACTATCTGTGTGTGTGGTGGGGGC GGGTGGGAAGGCATACCCTGGGTCTGATTGTAAGATGTGCTTCTCATTGT GGGCTGCAATGAAAAGGGCTTGAAGCCAGTGATTTGGACTAGAAGACTGG GAGTGGGTGCTGGGCACGGTGGCTCACTCCTGCAATCCCAGCACTTTGGG AAGCTGAGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0003 a0005c0021t0003	a0005c0021t0003g0117 a0005c0021t0003g0117	1	254	0.0039	-464	c.232 others(19): Show c.2328-4543_2328-4080del	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	14/19			chr7	TogoVar
DISP1_chr1_222810039_223010995	222832807	ACTCACTT others(457): Show ACTCACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGGTCACGCCA CTGCACTCCAGCTTTTGTGACAGAGTGAAACTCCATCTCAAAGAAATAAA AAATGAAAATAAATGTAAGTTAAATTAGATTACACATGTTAAATTTAAAT TTAAATAAGTTGAAAATTAAAACCCAAACACACCTTAAATAAATCACAAC CCAAATAATCTTGTACCCATCTCTTCAGCTGGAGGAGGGAATTGAGGCAA TGGGGGTTCTGTGTTTGACTTCTGCGAACACAAGGTAGATGTTTATTTGT TATTGCTGCTGATGTTTAAATCAGAAAAGGTTAGAAACGCATACTGAGTA GGCAGAATTATAGCTTCCACACTCTGTTTTAGACAGATTGGGATAGATAT CTGATTGTCTTTGAGAATAGACTTTTAACAAAGTGATAAGAGTTGAGATA AGTCACAAATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0070 a0001c0006t0001g0070	1	348	0.0029	-464	c.-15 others(21): Show c.-159+17735_-159+18198del	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DPH7_chr9_137549444_137583925	137565842	TGTCTGTG others(457): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01943.hp1 HG02080.hp1 others(10): Show HG00558.hp2 HG01943.hp1 HG02080.hp1 HG02135.hp1 HG02965.hp2 NA18945.hp2 NA18950.hp2 NA18962.hp2 NA18971.hp1 NA18974.hp2 NA18986.hp2 NA19086.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0074 others(10): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0210 a0005c0007t0001g0031	13	340	0.0382	-464	c.641 others(16): Show c.641-1152_641-689del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERICH1_chr8_659200_736224	675598	CGAGGACA others(457): Show CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02015.hp1 HG02129.hp1 others(1): Show HG01358.hp2 HG02015.hp1 HG02129.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0002t0002g0336	4	378	0.0106	-464	c.305 others(17): Show c.305-2015_305-1552del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675680	TGAGGACA others(457): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp2 HG01515.hp2 others(1): Show HG00323.hp2 HG01256.hp2 HG01515.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 others(1): Show a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0297	4	378	0.0106	-464	c.305 others(17): Show c.305-2097_305-1634del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
IL3RA_chrX_1331785_1387689	1376641	GGGAGAAG others(457): Show GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCA GCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAAACGGACTAAGACATCCCATAAAAAGGAGATGAGGACACAG ACACACACGGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGA TCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACCAAGGGAC AACCCTGTGGGACAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	115	0.0087	-464	c.875 others(17): Show c.875-2006_875-1543del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237543598	AGGACAGT others(457): Show AGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGT GGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	286	0.0035	-464	c.153 others(18): Show c.1539+957_1539+1420del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543616	GGACAGTA others(457): Show GGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGG GGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGG TGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAG TGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACA GTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGA CAGTGGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03831.hp1 NA18969.hp1 others(3): Show HG00544.hp2 HG03831.hp1 NA18969.hp1 NA18975.hp1 NA19000.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0001g0243 a0001c0001t0001g0284 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0243 a0001c0001t0001g0284 a0001c0001t0002g0158 a0001c0001t0007g0165 a0001c0001t0007g0166	6	286	0.0210	-464	c.153 others(18): Show c.1539+958_1539+1421del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
NEU4_chr2_241804193_241822413	241806949	ACCTTCCC others(457): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACC CGGGAAGAGCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-464	c.-23 others(11): Show c.-2328_-1865del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2243		chr2	TogoVar
SHC2_chr19_411589_466033	431888	CAGATGGC others(457): Show CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATACATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCGGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0003c0008t0003 a0001c0001t0003 a0003c0008t0003	a0001c0001t0003g0171 a0003c0008t0003g0183 a0001c0001t0003g0171 a0003c0008t0003g0183	2	212	0.0094	-464	c.111 others(19): Show c.1111-1605_1111-1142del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432344	GGGGCAGA others(457): Show GGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00733.hp1 others(27): Show HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02148.hp1 HG02273.hp2 HG03491.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18947.hp2 NA18966.hp1 NA18985.hp1 NA18988.hp1 NA19005.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0007c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0005t0001 a0002c0004t0001 a0007c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0084 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0004g0120 a0001c0001t0005g0053 a0001c0001t0008g0119 a0001c0001t0009g0163 a0001c0005t0001g0025 a0002c0004t0001g0194 a0002c0004t0001g0195 a0002c0004t0001g0197 a0002c0004t0001g0198 a0007c0019t0001g0127	30	212	0.1415	-464	c.111 others(19): Show c.1110+1901_1111-1598del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	400991	CCCGGACC others(457): Show CCCGGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCC GCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACA CCCGCCCCGCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	242	0.0041	-464	c.44 others(11): Show c.4441_*4904del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4724		chr11	TogoVar
TOP3A_chr17_18266428_18319994	18310157	TGGCTCAT others(457): Show TGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGGATC ATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTC TCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGTGCCTGTAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGG CGGTGGTTACAATGAGCCGAGATCTCATCACTGCACTCCAGCCTGAGCGA CAGTGAGAGAGACTCCTTCTCAAAAACCAAAAAAAAGGAATGAAGAACTG ATATTAATACATGGTACAACATGGATGGACTTCAAGATTATGTTAAGTGA AAGAAACCTGACACAAAAGAGCATGTAAGATATGGGTCCACTTATAGGAA ATGCCCAGAACAGGCAAATCCATGGGGAAAGAAGGCAGATTCGTGGTTGT GAGGGGCTGAGGAGA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0046 a0001c0002t0004g0046	1	388	0.0026	-464	c.181 others(17): Show c.181-1680_181-1217del	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	1/18			chr17	TogoVar
TWIST2_chr2_238843085_238915534	238880309	TAGTGTTG others(457): Show TAGTGTTGGTATTTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGT ATTTATTTGTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGT GTTAGTGTTGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATT AGTATTAGTTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATT AGTATTAGTGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAG TATTAGTATTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGT TAGTATTTATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGT ATTAGTATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCAT TAGTATTAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAAT ATTAGCATTAGTGTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01346.hp2 others(7): Show HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG02280.hp1 HG02451.hp2 HG03225.hp1 HG03579.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0107 a0001c0001t0001g0176 a0001c0001t0001g0245 others(7): Show a0001c0001t0001g0107 a0001c0001t0001g0176 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0001g0312 a0001c0001t0001g0322 a0001c0001t0002g0090 a0001c0001t0002g0233 a0001c0001t0002g0266 a0001c0001t0003g0099	10	338	0.0296	-464	c.36 others(19): Show c.36-29526_*36-29063del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADGRD1_chr12_130948907_131146469	131046287	CCCTCCCT others(456): Show CCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTG CTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGT GTCCTCCCTGGTCAGGGTCCTCCCTGGTCAGCGCTCCCTCCCTGGTCAGT GTCCTCTCTCCCTGGTCAGTGTCCTCCCTGGTCAGCGCTCCCTCCCTGGT CAGTGTCCTCCCTGGTCAGTGCCCCCTCCCTGGTCAATGCTCCCTCCCTG ATCAGTGCCCCCTCCCTGGCCAGTGTCCTCCCTGGTGAGTGCTCCCTCCC TGGTCAGTGTCCTCCCTGGTCAGTGCCCCCTCCCTGGGCAGTGTCCTCCC TGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCCCCCTC CCTGGGCAGTGTCCTCCCTGGTGAGTGCTCCCTCCCTGGTCAGTGCCCCC TCCCTGGGCAGTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0022 a0003c0040t0022	a0003c0040t0022g0096 a0003c0040t0022g0096	1	242	0.0041	-463	c.147 others(21): Show c.1474-30464_1474-30002del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
CKM_chr19_45301413_45327875	45310891	CTCCCAAG others(456): Show CTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACGACGCCGGGCTAATTT TTTTTTTTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGATGGTGTCAATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTT TAATTTTTGTAGCGACGTGGTCTCCCTATGTTGCCCAGGCTGGTCTAGAA CTCCTGGGCACAAGCGACCCTCCTGCTGCAGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACTGTGCCCGGCCAAGTCTAAGTTCTTTCTTTTTTG TTTGTTTTTTTTTGAGACAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCACGATCTCGGCTCACTGCAACCTCCGCCACCTGGGTTCAAGCGATT CTCCTGCATCATCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	392	0.0026	-463	c.653 others(15): Show c.653+395_653+857del	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding	5/7			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24358703	TTTTATAT others(456): Show TTTTATATATATATTTTATATATTTTATTTTATATATATTTTATTTATTT ATTTATATATTATATATTTTTATATATAATATATAAAATATATATTTTAT ATATTATATATAAATATATATATTATATTTATATATATATTTATATATTA TATATAATATATATAATATATATGTATTATATATATTTATATATATAATA TATTATATATTATATATATTATATATTATATATTTTATATATTATATATT ATATATTATATATTATATATTTTATACATTATATATTATATATTATATAT TTTATATATTATATATTTTATATTTTATATTTTATATATATTATATATTT TATATATCATATATATTATATATCATATATTTTTATATATTATATATTTT ATATATTATATATTATATATATTATATATTTTATATATATTATATATTTT ATATATTTTATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03471.hp2 HG02258.hp1 HG03471.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0021 a0005c0008t0029 a0002c0002t0021 a0005c0008t0029	a0002c0002t0021g0168 a0005c0008t0029g0169 a0002c0002t0021g0168 a0005c0008t0029g0169	2	216	0.0093	-463	c.-14 others(10): Show c.-1416_-954del	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		645		chr6	TogoVar
ERICH1_chr8_659200_736224	675624	GTGAGGAC others(456): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	378	0.0027	-463	c.305 others(17): Show c.305-2040_305-1578del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GTPBP6_chrX_299759_323796	322054	AAAAAAAA others(456): Show AAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAA AAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCA GCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAC GCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAA AAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAA AAAAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0003 a0016c0021t0003	a0016c0021t0003g0082 a0016c0021t0003g0082	1	155	0.0065	-463	c.-37 others(11): Show c.-3730_-3268del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3259		chrX	TogoVar
PPP3CC_chr8_22436078_22546125	22464142	TTCCTTAT others(456): Show TTCCTTATGATTTGTGAGGTTTTTTTTTCCCTTTAACCCAAATTTAATAA AGCAAAGAGTTCTCACAAAAGTTTTAAGTTAATTAAAATTCAGAGTATGC CAAACAAAGCTAATAATTTTTATAATCCTTTAAAAAATTTTTAATAAAGT AAAGGACTAAAGCTTTGTTTTACCTAGTGGCCATTTATTATAAACCCAAA GATGTAGTAGGTGTAAAAGACATCTTAACAATTTCTTATTATTTACTTAT TTTTTAGAGACAGGGTCTCGCTCAGCTGTCTAGGCTGGAGTGCAGTGGCT GGATCATAGCTCACTGCAGCCTCAATCTCCTGGGCTCAAGTGATTTTCCT GCCTCAGCCTCCTGAGCAGCTGGGACTATAGGTGTGCACCACCACACTCA ACTAATTTTTGTGTTTTTTTGGTAGAGACAGAGTTTCGCCATGTTGCGCA GGCTGGTCTCGAAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	326	0.0031	-463	c.50- others(17): Show c.50-10807_50-10345del	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PSD3_chr8_18522303_19018703	18618180	AATCAGGA others(456): Show AATCAGGAAATCTTTCAATCCGTCTATGACCTGGAAGCCCCTGCTTCCAG GTGTCCTGCCCTTCTGGGCTAAATCAATCAATGCATGCCTTATATGTGTT GATTTATGTCTTTGCCTATAACTTTGGTCTCCCAAAAATGTATACAGACA GGTTATAACCCAACCACCTTGGGCACATGTTCTCAGGTCATCCTGAGGCT ACGTCATGGGCCATGGTCACTTGTATCTGGCTCAGAATAAGCCTCTTCAA ATATTTTACAGACTTTGGCTTTTTTTTGTCAACAATATCATTTTTAAAAA TGATGGCAAATGATGAAATTCTATTGCTGTATCTATCATATTTTACTTAT TAAACATTTTATTGGCCATTAAACTGTTTCTAAAATGATGTTATTTTGTA ACTAAAATAACAACTGGATTCCTTCTATGTACCAGGCAGTGTACTACACA CCATAACAGGTATT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04204.hp2 HG03239.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0009 a0001c0002t0001 a0002c0003t0009	a0001c0002t0001g0070 a0002c0003t0009g0018 a0001c0002t0001g0070 a0002c0003t0009g0018	2	228	0.0088	-463	c.241 others(21): Show c.2410+13970_2410+14432del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	11/15			chr8	TogoVar
SCRN1_chr7_29915109_29994801	29984941	AAATTAAA others(456): Show AAATTAAAATAAGGAGCCAATTAAATATATAAGGTGAACAAAGATTTAAA AATTTGATAATATCTAGTCTTGACTTGTGTGGGGAAAGTAGCTTTGGGTA ATTTGGCCAAATCTAACAGATTAACATAACCAGTGAAGTTGGTAGACAGC TCTTGTTCATCTCATCCTAAAAGGAAGGAGACTGGGCTGGGCGCGGTGGC TCACACCTGTAATCCCAGCACTTGGGAGACTGAGGCAGGCGGATCATGAG GTCAGGAGTTTGAGACGAGCCTGACCAACATGGTGAAACCCCGTCTCTAC TAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCGCACCTGTAATCCCA GCTACTCAGGAGACTAAAGCAGGAGAAATCACTTGAACCTGGGGGGACAG AGGTTGCAGTGAGCTGAGATCACGCCACTACACTCCAGCCTGGGTGACAG AGTGAGACTCTGTC	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	274	0.0037	-463	c.-2+ others(15): Show c.-2+4238_-2+4700del	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	1/7			chr7	TogoVar
SLAIN2_chr4_48336529_48431201	48346797	GAATCAGA others(456): Show GAATCAGAAGTTAGACATCTAATAAGCTTTCTATTTCCCTTTTTTTTTTT TTTTTTTTTAAGAGACAGGGTCTTCCCATGTTGCCCAGGCTAGTCTCAAA CTCCTGGGATCAGGCAGTCTGCCCACCTCAACCTCCCAAAGTGCTAGAAT TACAGGCATGAGCCACTGTGCCTTGCCCTCTATTCCATTGTTAGCAGTGG TTTTCCAGTCATTCTAAAATGGCTTTAATTTTTTTTCTTTAATGGAACAA ATACTTAGAGTACCTGTGTGCAGCACAGTGTTGGGAACATTGAGAGACAT GATAATGCAAGTTCTTAAAAAATAGAACTTGGCCAAGCAGAGCCTCATGG TTGATAAAAGTATATTGCAGTCACTGTGGTGTGCCCATGTTTTTATATGC CAAGCATTTTGCAAGACAGCAGTCCGCAACCTTTTTGGCATCAGGGACCG GTTTCGTGGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG03195.hp2 HG02451.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0236 a0001c0004t0002g0237 a0001c0004t0002g0238 a0001c0004t0002g0236 a0001c0004t0002g0237 a0001c0004t0002g0238	3	348	0.0086	-463	c.389 others(17): Show c.389+4673_389+5135del	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM132B_chr12_125181386_125667369	125204231	GTGAGGGC others(456): Show GTGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTAT CTCATGAATCCTTTCAATGAGGGCTCCGTGTGCCAGGCAGGGTGCTTAGC CCTTTGTGTGGAATATCTCGTGAATCCTTTTGGTGAGGGCTCCATGTACC CAGGCACTCTGCTTAGTCCTTTATGTGGAGCATCTCATGAATCCTTTCAA TGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATC TCATGAATCCTTTCAATGAAGGCTCCGTGTACCAGGCACTGTGCTTAGCT CTTTATGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCA GGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAATG AGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTC ATGAATCCTTTCAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00735.hp2 others(19): Show HG00423.hp1 HG00438.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01346.hp1 HG02129.hp2 HG02683.hp2 HG03209.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA18949.hp2 NA18962.hp2 NA18970.hp2 NA18984.hp2 NA19057.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(7): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0001c0017 a0001c0036 a0002c0001 a0002c0005 a0002c0019	a0001c0002t0004 a0001c0002t0053 a0001c0003t0004 others(13): Show a0001c0002t0004 a0001c0002t0053 a0001c0003t0004 a0001c0003t0055 a0001c0004t0004 a0001c0004t0005 a0001c0007t0005 a0001c0013t0004 a0001c0013t0005 a0001c0017t0050 a0001c0036t0004 a0002c0001t0008 a0002c0005t0008 a0002c0005t0051 a0002c0005t0052 a0002c0019t0008	a0001c0002t0004g0098 a0001c0002t0004g0105 a0001c0002t0004g0112 others(19): Show a0001c0002t0004g0098 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0053g0097 a0001c0003t0004g0103 a0001c0003t0055g0108 a0001c0004t0004g0119 a0001c0004t0005g0096 a0001c0007t0005g0110 a0001c0007t0005g0111 a0001c0013t0004g0116 a0001c0013t0005g0107 a0001c0017t0050g0095 a0001c0036t0004g0109 a0002c0001t0008g0113 a0002c0001t0008g0117 a0002c0005t0008g0106 a0002c0005t0051g0099 a0002c0005t0052g0104 a0002c0019t0008g0118	22	128	0.1719	-463	c.67+ others(17): Show c.67+17446_67+17908del	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128498685	AGAATCTG others(456): Show AGAATCTGCAAAGAAACAAGCATTGCATTTCTATACAGAGTAATGCTCAT CTGAAAATGAAATTAAAAAATTTTCATTTATGATAGCATCAAAAAGAATA AGATTTATTCCTTAGAATAAATGTAACAAAAGAAACGGAAGACTTGTACC CTGAAAACTAAAAAAAAACTGTTGAAAGAAATAAAAGAAGATCTGAATAA ATGTAAAAACATCCCAGGTTTTGCAATTGGCAAACTTAGACTTAATATTA TCAAGATGGTAATATTACTCTCCAAAGTGATCACCAATTCAATGCAATTA CTATCAAAATCCCAGCTGCCATTTTTACTGAAATTGTCAAACTGATCTGA AAATTTATAGGGAAATACAAAGGACCCAGAATAGCCAAAATCATCTTCAA AAAGAGCAAATTTGAAGAGCTCACACTTTCTGATTTCAAATCTTACTACA ATGCTACAGTCATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0030 a0030	a0030c0076 a0030c0076	a0030c0076t0002 a0030c0076t0002	a0030c0076t0002g0020 a0030c0076t0002g0020	1	170	0.0059	-463	c.975 others(19): Show c.975-45271_975-44809del	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8			chr12	TogoVar
WNT7B_chr22_45915366_45982162	45924655	AGGTGGGC others(456): Show AGGTGGGCCCTAGGCTGGCAGGTGGGTGCTGGGGGTCCCAAAGGCTCATC AGGTGGGTGCCGGGTGGGCCCTAGACTGGCAGGTGGGTGCCGGGCGGGCC CTAGGCTGGCAGGTGGGTGCCGGGGGACCCAAAGGCTCATCAGGCAGGTG CTGGGGGGCCCAAAGGCTCATCAGGCGGGTGCTGGGTGGGCCCTAGAGTG GCAGGTGGGTGCTGGGTGGGCCCAAAGGCTCATCAGGTGGGCACCAGGTG GGCCCTAGAGTGGCAGGTGGGTGCTGGGTGGGCCTGAAGGCTCATCAGGT GGGTGCTGGGTGGGCCCTAGGCTGGCAGGTGGGTGCCGGGCGGGCCCAAA GTCTCATCAGGCAGGTGCTGGGTGGGTCCAAAGGCTCATCAGGTGGGTGC TGGGTGGGCCCTAGGCTGGCAGGTGGGTGCTGGGTGGGCCCAAAGGCACA TCAGATGAGTGCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	350	0.0029	-463	c.571 others(17): Show c.571-1783_571-1321del	WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding	3/3			chr22	TogoVar
AFDN_chr6_167821911_167977023	167940993	ATGTGTGG others(455): Show ATGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAA ACCATCCACAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGG GTGGAAACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAG GGATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAG GGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGAC ACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGT GGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAG AGGTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATC CACAGGAGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp2 others(45): Show HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03239.hp1 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp1 NA18961.hp1 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18987.hp2 NA18992.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19056.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0032 a0002c0014 a0002c0030 a0014c0015	a0001c0001t0004 a0001c0001t0014 a0001c0003t0001 others(5): Show a0001c0001t0004 a0001c0001t0014 a0001c0003t0001 a0001c0005t0001 a0001c0032t0001 a0002c0014t0001 a0002c0030t0001 a0014c0015t0001	a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 others(45): Show a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0014g0094 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0003t0001g0027 a0001c0003t0001g0032 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0067 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0077 a0001c0003t0001g0079 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0097 a0001c0003t0001g0105 a0001c0003t0001g0190 a0001c0003t0001g0271 a0001c0005t0001g0002 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0048 a0001c0005t0001g0059 a0001c0005t0001g0066 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0083 a0001c0005t0001g0189 a0001c0005t0001g0191 a0001c0032t0001g0038 a0002c0014t0001g0037 a0002c0030t0001g0100 a0014c0015t0001g0082	48	326	0.1472	-462	c.310 others(19): Show c.3100-2131_3100-1670del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANK2_chr4_113044653_113388736	113064718	TTGTTAGA others(455): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGT AGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA TGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTA GAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAAT GTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAG AACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATG TTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGA ACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGT TAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAA CTTCTAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG02129.hp2 others(17): Show HG00558.hp1 HG00639.hp1 HG02129.hp2 HG02451.hp2 HG02572.hp2 HG02897.hp2 HG02965.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18995.hp2 NA19068.hp2 NA19074.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0008 a0009 a0010	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0003c0031 a0008c0019 a0009c0018 a0010c0026	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0031t0001 a0008c0019t0001 a0009c0018t0001 a0010c0026t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0001g0163 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0003t0001g0098 a0002c0003t0001g0104 a0003c0031t0001g0103 a0008c0019t0001g0038 a0009c0018t0001g0049 a0010c0026t0001g0034	20	178	0.1124	-462	c.84+ others(17): Show c.84+14980_84+15441del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD11_chr16_89262630_89495561	89429152	ACGTTCTA others(455): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCAGGCTCAGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19080.hp2 HG00597.hp2 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0249 a0006c0010t0001g0189 a0001c0001t0001g0249 a0006c0010t0001g0189	2	310	0.0065	-462	c.-14 others(21): Show c.-144-11246_-144-10785del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429950	ACGTTCTA others(455): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTA GTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGTCGTTCTAGTACATAGCAGGGACTCTCAACTCTCAGGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTC TAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0005 a0002c0047t0005	a0002c0047t0005g0214 a0002c0047t0005g0214	1	310	0.0032	-462	c.-14 others(21): Show c.-144-12044_-144-11583del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
BRD9_chr5_858741_897801	896709	GCTGAATG others(455): Show GCTGAATGAAGATGGCCCCAGCAGTGAAAATCTGGAGGAAGAGACAGAAA ACATAATTGCAGCAAATCACTGGGTTCTACCTGCAGGTATGGGGTGTGAT GGGAGTTGAAGGGGAGGCTGAGGTCAGAGGATTGTATACTCCATGCCATG TCAGTTCACAGGGGGGGTTCTGTTTGTCCATTTGTTTTGTAGGATTTTAG GATGTTTTCTCTCTTATGAAATGGAAAGTATATCACAAAAGAGGAAAGTA GAGATTTCCAGTGTGGGACCATACTGTTCCTTTGGGTGGGTACCTTAGAG TTCCTGGCTAACGGAGAGTGCCCATGTGCTCTTCTCACATGCCTGCTTGG TCTGTCCTGCTGAGTGGCTCCTTGTCTGCTTGATGCTTCTCCGTGGGCAT TGCTGATGGGCTCTAGCAGGCCAAGCCCACGGCTTCATTCAGTCAGTGTG TGGGGAAACAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	-462	c.-45 others(11): Show c.-4514_-4053del	BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding		3909		chr5	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	GCGAGGGA others(455): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02809.hp1 others(1): Show HG01243.hp1 HG02451.hp2 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0001 a0001c0001t0001g0064	4	328	0.0122	-462	c.-28 others(11): Show c.-2809_-2348del	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(455): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01496.hp2 others(7): Show HG01256.hp2 HG01258.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02155.hp1 NA18947.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021	a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0182 others(7): Show a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0006g0085 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0021g0086	10	326	0.0307	-462	c.-1- others(13): Show c.-1-711_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127711	GATCCCAC others(455): Show GATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATC TCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTGATCCCAC CGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAG TGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0293 a0002c0002t0003g0288 a0001c0001t0003g0293 a0002c0002t0003g0288	2	326	0.0061	-462	c.-1- others(13): Show c.-1-787_-1-326del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(455): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01081.hp1 HG01175.hp2 others(8): Show HG00609.hp1 HG01081.hp1 HG01175.hp2 HG02056.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG03688.hp1 HG04228.hp1 NA18967.hp2 NA19090.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0015 a0024 a0052	a0001c0029 a0001c0030 a0002c0002 others(6): Show a0001c0029 a0001c0030 a0002c0002 a0002c0003 a0003c0007 a0007c0008 a0015c0015 a0024c0036 a0052c0067	a0001c0029t0002 a0001c0030t0002 a0002c0002t0001 others(6): Show a0001c0029t0002 a0001c0030t0002 a0002c0002t0001 a0002c0003t0001 a0003c0007t0002 a0007c0008t0002 a0015c0015t0002 a0024c0036t0001 a0052c0067t0002	a0001c0029t0002g0010 a0001c0030t0002g0091 a0002c0002t0001g0189 others(8): Show a0001c0029t0002g0010 a0001c0030t0002g0091 a0002c0002t0001g0189 a0002c0003t0001g0128 a0003c0007t0002g0057 a0003c0007t0002g0062 a0007c0008t0002g0025 a0015c0015t0002g0044 a0015c0015t0002g0061 a0024c0036t0001g0169 a0052c0067t0002g0013	11	246	0.0447	-462	c.212 others(18): Show c.2121-1232_2121-771del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	AGACCCAG others(455): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	392	0.0026	-462	c.253 others(15): Show c.253-737_253-276del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647614	TGCGGGGT others(455): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0260 a0001c0001t0002g0239 a0001c0001t0002g0260	2	392	0.0051	-462	c.253 others(15): Show c.253-745_253-284del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647816	GGACCCAG others(455): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	392	0.0026	-462	c.253 others(15): Show c.253-947_253-486del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL5A1_chr9_134636803_134849843	134849381	TATCACAC others(455): Show TATCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGA TCACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATC ACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCAC ACCTCCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGAC CCCCCAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCT CCCGGGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCC CAGTGAGCGTGGGATCACACCTCCCAGGAAGCATGGTATCACACCTCCCA GGAAGCACAGGATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGG AAGCATGGGATCACACCTCCCAGGGAGCACCAGATCACACCTCCCAGGAA CCACGATATCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00642.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03688.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18950.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0018 a0001c0022 a0001c0027 a0001c0046 a0002c0042 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0004c0029 a0004c0067 a0005c0062 a0007c0066 a0010c0037	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0027 a0001c0001t0059 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0013 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0016 a0001c0004t0001 a0001c0005t0009 a0001c0005t0050 a0001c0005t0054 a0001c0008t0001 a0001c0008t0011 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0004 a0001c0018t0008 a0001c0022t0001 a0001c0027t0001 a0001c0046t0001 a0002c0042t0002 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0004c0029t0005 a0004c0067t0001 a0005c0062t0011 a0007c0066t0001 a0010c0037t0001	a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0088 others(65): Show a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0011g0229 a0001c0001t0027g0210 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0004g0150 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0153 a0001c0003t0001g0205 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0016g0099 a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0001g0225 a0001c0005t0009g0256 a0001c0005t0050g0271 a0001c0005t0054g0167 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0011g0091 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0003g0143 a0001c0012t0004g0112 a0001c0018t0008g0182 a0001c0022t0001g0181 a0001c0027t0001g0130 a0001c0046t0001g0239 a0002c0042t0002g0234 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0062t0011g0026 a0007c0066t0001g0235 a0010c0037t0001g0057	68	272	0.2500	-462	c.70 others(11): Show c.7079_*7540del	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4539		chr9	TogoVar
CSMD1_chr8_2930361_4999914	3795199	CAGATATA others(455): Show CAGATATAGATACCTATCATGTACAGATATAGATATATATCTATCATGTA CACATATAGATATATATCTATCATGTACAGATATATATATCATGTACAGA TATATATATCTATCATGTACAGATATAGATATCTATCATGTAGATATAGA TATATATCTATCATGTATATAGATATATATCATGTATAGATATAGATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGATAT AGATATATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGAT ATATATCTATCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	-462	c.819 others(19): Show c.819-41619_819-41158del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795288	TCATGTAC others(455): Show TCATGTACAGATATATATATCTATCATGTACAGATATAGATATCTATCAT GTAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAG ATATAGATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCATGTA CAGCTATAGATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 NA18522.hp2 HG02257.hp1 HG02886.hp2 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0072 a0002c0078 a0007c0088 a0002c0072 a0002c0078 a0007c0088	a0002c0072t0003 a0002c0078t0044 a0007c0088t0076 a0002c0072t0003 a0002c0078t0044 a0007c0088t0076	a0002c0072t0003g0066 a0002c0078t0044g0064 a0007c0088t0076g0057 a0002c0072t0003g0066 a0002c0078t0044g0064 a0007c0088t0076g0057	3	126	0.0238	-462	c.819 others(19): Show c.819-41708_819-41247del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DAPK1_chr9_87492867_87713634	87652145	GGGTCCTG others(455): Show GGGTCCTGATTCTGTGTCCTCCCACCTGATCCCAGGTCCTGATTCTGTGT CCATCCCCCCGATCCCGGGTCCTGATTCTGTGTCCTCCCACCTGATCCCA GGTCCTGATTCTGTGTCCATCCCCCCGATCCCGGGTCCTGATTCTGTGTC CTCCCACCTGATCCCAGGTCCTGATTCTGTGTCCTCCCACCTGATCCCGG GTCCTGATTCTGTGTCCTCCCACCTGATCCCGGGTCCTGATTCTGTGTCC TCCCACCTGATCCCGGGTCCTGATTCTGTGTCCTCCCACCTGATCCCGGG TCCTGATTCTGTGTCCTCCCACCTGATCCCGGGTCCTGATTCTGTGTCCT CCCACCTGATACCAGGTCCTGATTCTGTGTCCATGCCCCCGATCCTGGGT CCTGATTCTGTGTCCTCTCACCTGATCCCGGGTCCTGATTCTGTGTTCTC TCACCTGATCCCA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	236	0.0042	-462	c.182 others(17): Show c.1824+451_1824+912del	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCDC2C_chr2_3698575_3853008	3775143	GCTGTGGC others(455): Show GCTGTGGCTGTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGC TCTGAGCTAGGCAGCTGTGGCTGTGGACTAGGCAGCTGTGGCTCTGAGCT AGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCT GTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGT GGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGG CAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTG GCTCTGAGCTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAG CTAGGCAGCTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAG CTGTGGCTGTGGGCTAGGCAGCTGTGGCTCTGAGCTAGGCAGCTGTGGCT GTGGGCTAGGCAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG01981.hp1 others(16): Show HG00639.hp1 HG01516.hp2 HG01981.hp1 HG03041.hp1 HG03540.hp1 HG03927.hp2 NA18942.hp2 NA18945.hp2 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18970.hp2 NA18975.hp1 NA18989.hp2 NA18995.hp2 NA19060.hp2 NA19074.hp2 NA19081.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0079 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0020 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0002g0101 a0001c0001t0002g0297 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0165 a0001c0001t0004g0061 a0001c0001t0004g0080 a0001c0001t0004g0316 a0001c0001t0006g0051 a0001c0001t0007g0091 a0001c0002t0001g0306 a0002c0004t0002g0182 a0004c0007t0001g0081	19	324	0.0586	-462	c.955 others(17): Show c.955-3661_955-3200del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774840	TCTCCTAC others(455): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGT ATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTACATGTATTCTC CTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	420	0.0024	-462	c.364 others(16): Show c.364-1268_364-807del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
MAN1B1_chr9_137081985_137114183	137102921	CGCTGTTG others(455): Show CGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTG CAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGG TCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACAC ACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTT GCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAG GTCGGTGGTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGT TACACACATTCATGGTGTTGCAGGCGTGCAGGTCGGTGTTACACACATGC TGTTGCAGGCGTGCAGGTCGGTGGTACATTCATGCTGTTGCAGGCGTGCA GGTCGGTGGTGTTACACATTTTCACGCTGTTGCAGACGTGCAGGTCAGTG GTGTTACATTCAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0002 a0017c0027t0002	a0017c0027t0002g0241 a0017c0027t0002g0241	1	404	0.0025	-462	c.125 others(19): Show c.1254+1262_1254+1723del	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MCF2L_chr13_112964214_113104742	113067868	GCGGAGGC others(455): Show GCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAACGCTGG AGTGCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00544.hp2 others(40): Show HG00323.hp1 HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp1 HG01891.hp1 HG01978.hp1 HG01993.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18522.hp2 NA18950.hp1 NA18950.hp2 NA19005.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0002t0001 a0001c0002t0027 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0006t0002 a0001c0006t0009 a0001c0010t0021 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0022 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0005g0062 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0006g0056 a0001c0001t0006g0108 a0001c0001t0008g0061 a0001c0001t0008g0066 a0001c0001t0012g0055 a0001c0001t0018g0077 a0001c0001t0019g0107 a0001c0001t0022g0104 a0001c0001t0028g0098 a0001c0002t0001g0069 a0001c0002t0027g0065 a0001c0004t0001g0025 a0001c0004t0001g0102 a0001c0004t0003g0009 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0006t0002g0029 a0001c0006t0009g0028 a0001c0010t0021g0015 a0001c0013t0001g0067 a0001c0015t0001g0013 a0001c0016t0004g0085	43	116	0.3707	-462	c.882 others(17): Show c.882-1606_882-1145del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113069047	GCCAGCTA others(455): Show GCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGT GGTGCACAGCTGGAGTGCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCC GAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCA GAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTGC CAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGG TGCACAGCTGGAGTCCCAGCTACGCAGAGGCAGAGGTCGCAGTGAGCCGA GATTGCACCTGGGTGGTGCACAGCTGGAGTGCCAGCTACGCGGAGGCAGA GGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCA GCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTG CACAGCTGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0106 a0001c0005t0032g0106	1	116	0.0086	-462	c.882 others(16): Show c.882-1003_882-542del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 10000 hits)