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
PLEKHG4B_chr5_87168_194966	165649	AGCTCACA others(357): Show AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATC CTCTGACGGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	210	0.0048	-364	c.347 others(19): Show c.3476+2127_3476+2490del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
SAMD11_chr1_918923_949574	934013	AGGCGGCT others(357): Show AGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACA GGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGC GTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGC GGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0300 a0005c0007t0008g0300	1	434	0.0023	-364	c.843 others(17): Show c.843-1736_843-1373del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCML4_chr6_107697154_107829313	107782889	CAGGTGCT others(357): Show CAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGCTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAG TTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGAGCTGG TCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGG TGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGAT GGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTG CCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTG AGTTTGCCTGATGGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG01433.hp1 others(2): Show HG00735.hp1 HG01257.hp2 HG01433.hp1 HG01952.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0009 a0002c0004t0014 a0002c0006t0009 others(1): Show a0002c0004t0009 a0002c0004t0014 a0002c0006t0009 a0002c0006t0022	a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 others(2): Show a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 a0002c0006t0009g0240 a0002c0006t0022g0015	5	250	0.0200	-364	c.-59 others(19): Show c.-59-10867_-59-10504del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SKI_chr1_2223319_2315213	2281554	AGGACGCC others(357): Show AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC GGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	330	0.0030	-364	c.970 others(19): Show c.970-21421_970-21058del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168560598	GCCCTGAG others(357): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0168 a0001c0001t0001g0124 a0001c0001t0001g0168	2	180	0.0111	-364	c.637 others(19): Show c.637+11421_637+11784del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	ATTCTTGG others(357): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03130.hp2 HG02735.hp2 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0004c0009t0003 a0001c0002t0002 a0004c0009t0003	a0001c0002t0002g0044 a0004c0009t0003g0088 a0001c0002t0002g0044 a0004c0009t0003g0088	2	180	0.0111	-364	c.637 others(19): Show c.637+11445_637+11808del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560650	ACCCTGAG others(357): Show ACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGA GGTGTCATTTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	180	0.0056	-364	c.637 others(19): Show c.637+11473_637+11836del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561742	GCCCTGAG others(357): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02809.hp2 HG02896.hp1 HG01346.hp2 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0002t0002g0064 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0002t0002g0064	3	180	0.0167	-364	c.637 others(19): Show c.637+12564_637+12927del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561773	TGGAGGAG others(357): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACAAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGTGTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	180	0.0056	-364	c.637 others(19): Show c.637+12589_637+12952del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561794	ACCCTGAG others(357): Show ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0016 a0001c0002t0007g0016	1	180	0.0056	-364	c.637 others(19): Show c.637+12603_637+12966del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1107990	TAGTGGAC others(357): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	190	0.0053	-364	c.325 others(17): Show c.325+9623_325+9986del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108094	TAGTGGAC others(357): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp1 HG02886.hp1 others(2): Show HG01169.hp2 HG02717.hp1 HG02886.hp1 HG03540.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0083 others(2): Show a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086	5	190	0.0263	-364	c.325 others(18): Show c.325+9727_325+10090del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108146	GAGTGGAC others(357): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTGCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp1 HG02559.hp1 HG02895.hp1	a0010 a0015 a0010 a0015	a0010c0012 a0015c0036 a0010c0012 a0015c0036	a0010c0012t0001 a0015c0036t0001 a0010c0012t0001 a0015c0036t0001	a0010c0012t0001g0066 a0015c0036t0001g0070 a0010c0012t0001g0066 a0015c0036t0001g0070	2	190	0.0105	-364	c.325 others(18): Show c.325+9779_325+10142del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108624	GTGCTGTC others(357): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG02132.hp2 others(5): Show HG01106.hp2 HG01496.hp1 HG02132.hp2 HG02258.hp1 HG03017.hp1 HG03831.hp2 HG03927.hp2 NA19000.hp2	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0023	a0002c0003 a0004c0004 a0006c0009 others(1): Show a0002c0003 a0004c0004 a0006c0009 a0023c0027	a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 others(1): Show a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 a0023c0027t0001	a0002c0003t0001g0026 a0002c0003t0001g0091 a0002c0003t0001g0148 others(5): Show a0002c0003t0001g0026 a0002c0003t0001g0091 a0002c0003t0001g0148 a0002c0003t0001g0165 a0002c0003t0001g0185 a0004c0004t0001g0088 a0006c0009t0001g0163 a0023c0027t0001g0127	8	190	0.0421	-364	c.325 others(19): Show c.325+10247_325+10610del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX5_chr12_23524504_23954670	23837447	ATATATTT others(357): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTATATAA TATATAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTT ATATAATATATAAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01433.hp2 HG02040.hp2 others(11): Show HG00597.hp2 HG01433.hp2 HG02040.hp2 HG02132.hp1 HG02273.hp2 HG02698.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp2 NA18959.hp2 NA18961.hp2 NA19063.hp1 NA19072.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0017 a0001c0001t0034 others(9): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0034 a0001c0001t0062 a0001c0001t0071 a0001c0001t0077 a0001c0001t0102 a0001c0001t0105 a0001c0001t0106 a0001c0001t0122 a0001c0002t0005 a0001c0002t0006	a0001c0001t0009g0041 a0001c0001t0017g0042 a0001c0001t0034g0015 others(11): Show a0001c0001t0009g0041 a0001c0001t0017g0042 a0001c0001t0034g0015 a0001c0001t0062g0089 a0001c0001t0071g0014 a0001c0001t0077g0052 a0001c0001t0102g0016 a0001c0001t0105g0063 a0001c0001t0106g0011 a0001c0001t0122g0069 a0001c0002t0005g0013 a0001c0002t0005g0071 a0001c0002t0006g0043 a0001c0002t0006g0061	14	212	0.0660	-364	c.481 others(17): Show c.481+8172_481+8535del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SULT4A1_chr22_43819509_43867513	43834362	CCACCGCG others(357): Show CCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCC GCAGCCACACCGCGGCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTG CTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCACGCCCCCACCGCGGC CCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACAC CGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGC CCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTC CCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTG AGCTTCCCGCACCCA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0136 a0001c0001t0006g0137	2	386	0.0052	-364	c.509 others(15): Show c.509-992_509-629del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
TRIM46_chr1_155168849_155189970	155188854	GCGGTGGA others(357): Show GCGGTGGAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTG GACTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGG TGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTC CGGTGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCG GTCTGTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAG CCCGAGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCT GCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACA CCGTGGGCTGCGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01106.hp1 others(24): Show HG00438.hp2 HG00597.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp2 HG02132.hp2 HG02135.hp1 HG02486.hp1 HG02602.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03688.hp2 HG06807.hp1 NA18979.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19067.hp1 NA19077.hp1 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0002g0001 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0004c0010t0001g0008	27	348	0.0776	-364	c.46 others(11): Show c.4665_*5028del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3885		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155188879	TGTCCGGG others(357): Show TGTCCGGGGCCGAGGTGACACCGTGGACTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGT GGAGCCCGGGGGCCGGCCTGGTGTCCGGTGCCGAGGTGACACCGTGGGCT GGGGGGGCGGTGGAGCCCGGAGCCGGTCTGTTGTCCGGGGCCGAGGTGAC ACCGTGTGCTGGAGTGTCGGTGGAGCCCGAGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACTGTGAGCTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCG GCCTGCTCTCTGTTTTAAATATACACCGTGGGCTGCGGGCGCGGTGGAGC CCGGGGACGGCCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	348	0.0029	-364	c.46 others(11): Show c.4690_*5053del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3910		chr1	TogoVar
TRIM46_chr1_155168849_155189970	155188908	GGGGGGGC others(357): Show GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGT GCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCT GTTGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCG AGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGG GCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGACGGCCTGGTGTCCGGGGCCGAG GTGACACCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(21): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp2 HG01099.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG02630.hp1 HG03017.hp1 HG03654.hp1 HG03942.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp2 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0002t0001g0004 a0001c0008t0001g0001 a0003c0007t0001g0014	24	348	0.0690	-364	c.47 others(11): Show c.4719_*5082del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3939		chr1	TogoVar
TRPM8_chr2_233912373_234024522	233999017	TGAAAAAA others(357): Show TGAAAAAAATAAAGGAGGGTCATTTTACGTCTCTAAGTGGATCAGTTATA TATAATTATGTAACAAGTCACCCCGAAACTTGGTTTCCTGAAAGCATTTA TTTGCCCATGATTCTGTGGGTCCCTCCTGGGGCAGGGCAGGGCAGGGCAG GGCAGAGCTGGGCTGGGCTGGCTGCCTCTGTTCCTTGAAGCATCCAGTGA TTGGAAGCTGGACCCCAGGCTGGCTGGTCTGGACATCCACACGCATTCTC ACATGCAGTGCCGGCTGGCCAGCAGCAGGGAGTCTCAGTGTCACCACACA TAGCAGCTGGGTTCCTGCAAAAAGCAGGTACTGCAAGGCCCCTGAGGCTG TGGCTCAGAAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02922.hp1 others(2): Show HG02559.hp1 HG02717.hp2 HG02922.hp1 HG03195.hp2 HG03471.hp2	a0002 a0004 a0002 a0004	a0002c0007 a0004c0012 a0002c0007 a0004c0012	a0002c0007t0015 a0004c0012t0015 a0004c0012t0044 a0002c0007t0015 a0004c0012t0015 a0004c0012t0044	a0002c0007t0015g0002 a0002c0007t0015g0003 a0004c0012t0015g0070 others(2): Show a0002c0007t0015g0002 a0002c0007t0015g0003 a0004c0012t0015g0070 a0004c0012t0015g0071 a0004c0012t0044g0072	5	322	0.0155	-364	c.313 others(19): Show c.3130+2504_3130+2867del	TRPM8	ENSG00000144481.17	transcript	ENST00000324695.9	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS53_chr17_503668_719839	612477	TTCACAGC others(357): Show TTCACAGCAGTATTCAAATAGTGAATTCACACAGTGAAAACCTGTACAAA TATTCACATAGTGAGTTCACACAGTGAAAACCTGTACAGATACTCACAGC AGTAATCAAATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCATA TAGTGAGTTCACACAGCGAAAACCTGTACAGATATTCACAGCAGTATTCA AATAGTGAATTCACACAGTGAAAACCTGTACAAATATTCACATAGTTCAC ACAGCGAAAACCTGTACAGATATTCACAGCAGTATTCAAATAGTGAATTC ACACAGTGAAAACCTGTACAAATATTCACATAGTGAGTTCACACAGTGAA AACCTGTACAGATAC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0123 a0001c0001t0123g0123	1	232	0.0043	-364	c.111 others(21): Show c.1116+10692_1117-10582del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
ZGPAT_chr20_63703039_63741142	63723065	GTCCTCCC others(357): Show GTCCTCCCTTCTCCTCTGGCATAGCTCCATCCTCCCTTCTCCTATGACAC AGCTCCATCCTCCCTTCTCCTCTGACATAGCTCCATCCTCCCTTCTCCTA TGACACAGCTCCATCCTCCCTTCTCCTCTGACATAGCTCCATCCTCCCTT CTCCTGTGTCATAGCTCCATCCTCCCTTCTCCTCTGACACAGCTCCATCC TCCCTTCTCCTCTGGCATAGCTCCATCCTCCCTTCTCCTATGACACAGCT CCATCCTCCCTTCTCCTATGACACAGCTCCATCCTCCCTTCTCCTATGAC ACAGCTCCATCCTCCCTTCTCCTATGACACAGCTCCATCCTCCCTTCTCC TATGACACAGCTCCA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	346	0.0029	-364	c.585 others(18): Show c.585-10111_585-9748del	ZGPAT	ENSG00000197114.12	transcript	ENST00000355969.11	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF713_chr7_55882456_55947225	55904077	AAAGAGAC others(357): Show AAAGAGACTAGATCACAGCTCCCTGAGAGAGACGGTGGAAGTAAAGCAAG AGTCACCAGTCACCAGTCACCCGTATCAGATACTGTCTTGGAAGAAGTAA TGAGGTCAGGCCAGGCCTGATGGCTCACACCTGCAATCCCAGCACCAGGC CGAGGCGGGTGGATCACTTGAGCTAAGGAGTTTGAAACCAGCCTCGGCAA CGTGGTGAAACCTCACTTCTACTAAAAATACAAAAATTAGCCAGGCATGG TAGTGTACACCTGTAATTCCCAGCTACTTGGGAGGCTGAAGTGGGAGGAC AGCTTGGGTCCAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCACTG CACCCTAGCCAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(176): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0076 a0001c0001t0080 a0001c0001t0081 a0003c0003t0003	a0001c0001t0002g0005 a0001c0001t0002g0080 a0001c0001t0002g0179 others(175): Show a0001c0001t0002g0005 a0001c0001t0002g0080 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0348 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0032 a0001c0001t0005g0065 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0008g0165 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0184 a0001c0001t0008g0372 a0001c0001t0013g0182 a0001c0001t0013g0190 a0001c0001t0013g0212 a0001c0001t0013g0225 a0001c0001t0013g0245 a0001c0001t0013g0246 a0001c0001t0013g0349 a0001c0001t0014g0005 a0001c0001t0014g0197 a0001c0001t0014g0207 a0001c0001t0014g0208 a0001c0001t0014g0217 a0001c0001t0014g0223 a0001c0001t0014g0240 a0001c0001t0015g0041 a0001c0001t0015g0045 a0001c0001t0015g0048 a0001c0001t0015g0051 a0001c0001t0015g0059 a0001c0001t0016g0033 a0001c0001t0016g0034 a0001c0001t0016g0043 a0001c0001t0016g0046 a0001c0001t0016g0078 a0001c0001t0017g0067 a0001c0001t0017g0068 a0001c0001t0017g0285 a0001c0001t0017g0286 a0001c0001t0017g0347 a0001c0001t0022g0191 a0001c0001t0022g0219 a0001c0001t0022g0236 a0001c0001t0023g0152 a0001c0001t0023g0153 a0001c0001t0023g0154 a0001c0001t0028g0166 a0001c0001t0028g0167 a0001c0001t0029g0193 a0001c0001t0029g0202 a0001c0001t0031g0057 a0001c0001t0031g0060 a0001c0001t0032g0038 a0001c0001t0032g0055 a0001c0001t0035g0398 a0001c0001t0038g0002 a0001c0001t0038g0010 a0001c0001t0043g0079 a0001c0001t0044g0196 a0001c0001t0045g0077 a0001c0001t0047g0292 a0001c0001t0048g0294 a0001c0001t0049g0230 a0001c0001t0050g0229 a0001c0001t0051g0235 a0001c0001t0052g0183 a0001c0001t0053g0243 a0001c0001t0054g0297 a0001c0001t0055g0194 a0001c0001t0056g0231 a0001c0001t0057g0061 a0001c0001t0060g0175 a0001c0001t0061g0176 a0001c0001t0062g0244 a0001c0001t0063g0056 a0001c0001t0066g0071 a0001c0001t0068g0066 a0001c0001t0070g0206 a0001c0001t0076g0073 a0001c0001t0080g0298 a0001c0001t0081g0008 a0003c0003t0003g0035	179	410	0.4366	-364	c.-58 others(19): Show c.-582-2173_-582-1810del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNFX1_chr20_49240900_49283057	49274628	AGGCACCT others(357): Show AGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTT GAACCTGGGAGGTGGAGGTTGCAGTGAACCGAGATCGCACCACTGCACTC CAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAAATAAATAAATAC ATAAATAAATTTCATCTGTTTCTTCTTACGTTTTAAAATGATGTTTCTAG AAAATAAAAACTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAG CCGGGCGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0120 a0003c0003t0004g0120	1	398	0.0025	-364	c.61+ others(14): Show c.61+787_61+1150del	ZNFX1	ENSG00000124201.15	transcript	ENST00000396105.6	protein_coding	2/13			chr20	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(356): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCAAAGTCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01257.hp2 others(16): Show HG01074.hp2 HG01106.hp2 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp1 NA18962.hp1 NA18983.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0089 a0001c0001t0001g0317 a0001c0001t0002g0188 others(16): Show a0001c0001t0001g0089 a0001c0001t0001g0317 a0001c0001t0002g0188 a0001c0001t0003g0071 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0118 a0001c0001t0003g0130 a0001c0001t0003g0153 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0241 a0001c0001t0006g0064 a0001c0001t0009g0223 a0001c0001t0011g0039 a0001c0001t0011g0043 a0001c0001t0011g0057 a0001c0001t0020g0014 a0001c0001t0022g0022	19	354	0.0537	-363	c.735 others(15): Show c.735-814_735-452del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283784	ACCCAGAT others(356): Show ACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCT GTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCC CCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTG CGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(27): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00639.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01981.hp1 HG02004.hp2 HG02132.hp2 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG06807.hp1 NA18952.hp1 NA18964.hp1 NA18968.hp2 NA18981.hp2 NA19010.hp2 NA19063.hp2 NA19067.hp1 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0005t0008	a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0328 others(27): Show a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0328 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0229 a0001c0001t0003g0125 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0003g0201 a0001c0001t0003g0239 a0001c0001t0003g0257 a0001c0001t0004g0154 a0001c0001t0004g0279 a0001c0001t0006g0056 a0001c0001t0006g0287 a0001c0001t0007g0007 a0001c0001t0008g0345 a0001c0001t0009g0275 a0001c0002t0002g0143 a0001c0002t0002g0270 a0001c0003t0003g0212 a0001c0003t0005g0052 a0001c0003t0007g0054 a0001c0005t0008g0131 a0001c0005t0008g0314	30	354	0.0848	-363	c.735 others(15): Show c.735-674_735-312del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1289484	CTCCGTCC others(356): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	295	0.0034	-363	c.37 others(11): Show c.3717_*4079del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2906		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289509	CCCCGTGT others(356): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCG AGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	295	0.0034	-363	c.36 others(11): Show c.3692_*4054del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2881		chr1	TogoVar
ANKRD30B_chr18_14743172_14859667	14822942	TACGTGCT others(356): Show TACGTGCTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(312): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(41): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045	a0001c0001 a0001c0003 a0001c0011 others(61): Show a0001c0001 a0001c0003 a0001c0011 a0001c0015 a0001c0036 a0001c0037 a0001c0041 a0001c0055 a0001c0059 a0001c0060 a0001c0063 a0002c0002 a0002c0004 a0003c0006 a0003c0019 a0003c0021 a0004c0007 a0004c0022 a0004c0045 a0005c0005 a0006c0008 a0007c0009 a0008c0010 a0009c0013 a0010c0026 a0010c0027 a0010c0049 a0011c0014 a0012c0012 a0013c0017 a0014c0018 a0015c0023 a0015c0048 a0016c0031 a0016c0050 a0017c0016 a0018c0032 a0018c0051 a0019c0020 a0020c0040 a0021c0042 a0022c0061 a0023c0043 a0024c0038 a0025c0030 a0026c0029 a0027c0028 a0028c0025 a0029c0024 a0030c0062 a0031c0047 a0033c0044 a0034c0053 a0035c0054 a0036c0035 a0037c0058 a0038c0057 a0039c0056 a0040c0033 a0041c0034 a0042c0052 a0043c0039 a0044c0064 a0045c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0011t0003 a0001c0015t0001 a0001c0036t0002 a0001c0037t0003 a0001c0041t0001 a0001c0055t0001 a0001c0059t0002 a0001c0060t0002 a0001c0063t0004 a0002c0002t0001 a0002c0002t0012 a0002c0004t0001 a0003c0006t0001 a0003c0006t0008 a0003c0019t0001 a0003c0021t0001 a0004c0007t0001 a0004c0022t0001 a0004c0045t0010 a0005c0005t0001 a0005c0005t0006 a0006c0008t0001 a0007c0009t0007 a0008c0010t0001 a0008c0010t0008 a0009c0013t0005 a0010c0026t0001 a0010c0027t0001 a0010c0049t0001 a0011c0014t0001 a0012c0012t0002 a0013c0017t0001 a0013c0017t0005 a0014c0018t0005 a0015c0023t0001 a0015c0048t0001 a0016c0031t0003 a0016c0050t0003 a0017c0016t0003 a0017c0016t0004 a0018c0032t0002 a0018c0051t0003 a0019c0020t0001 a0020c0040t0001 a0021c0042t0005 a0022c0061t0002 a0023c0043t0001 a0024c0038t0008 a0025c0030t0001 a0026c0029t0001 a0027c0028t0001 a0028c0025t0001 a0029c0024t0001 a0030c0062t0001 a0031c0047t0001 a0033c0044t0001 a0034c0053t0010 a0035c0054t0001 a0036c0035t0004 a0037c0058t0002 a0038c0057t0003 a0039c0056t0001 a0040c0033t0004 a0041c0034t0004 a0042c0052t0001 a0043c0039t0009 a0044c0064t0001 a0045c0065t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(306): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0110 a0001c0001t0002g0276 a0001c0001t0003g0055 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0011g0022 a0001c0001t0013g0242 a0001c0003t0001g0120 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0186 a0001c0003t0001g0193 a0001c0003t0001g0195 a0001c0003t0001g0220 a0001c0003t0002g0097 a0001c0003t0002g0106 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0123 a0001c0003t0002g0131 a0001c0003t0002g0151 a0001c0003t0002g0155 a0001c0003t0002g0157 a0001c0003t0002g0159 a0001c0003t0002g0188 a0001c0003t0002g0196 a0001c0003t0002g0205 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0222 a0001c0003t0002g0224 a0001c0003t0003g0214 a0001c0003t0004g0244 a0001c0003t0004g0295 a0001c0003t0004g0296 a0001c0003t0004g0298 a0001c0003t0004g0303 a0001c0003t0004g0305 a0001c0003t0004g0307 a0001c0003t0004g0308 a0001c0003t0009g0228 a0001c0003t0009g0229 a0001c0011t0003g0223 a0001c0011t0003g0270 a0001c0011t0003g0274 a0001c0011t0003g0280 a0001c0015t0001g0062 a0001c0015t0001g0063 a0001c0015t0001g0064 a0001c0036t0002g0192 a0001c0037t0003g0191 a0001c0041t0001g0249 a0001c0055t0001g0088 a0001c0059t0002g0050 a0001c0060t0002g0077 a0001c0063t0004g0297 a0002c0002t0001g0098 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0215 a0002c0002t0001g0225 a0002c0002t0001g0231 a0002c0002t0001g0248 a0002c0002t0012g0221 a0002c0004t0001g0004 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0021 a0002c0004t0001g0029 a0002c0004t0001g0037 a0002c0004t0001g0047 a0002c0004t0001g0049 a0002c0004t0001g0052 a0002c0004t0001g0070 a0002c0004t0001g0076 a0002c0004t0001g0254 a0002c0004t0001g0266 a0002c0004t0001g0267 a0002c0004t0001g0278 a0002c0004t0001g0284 a0002c0004t0001g0288 a0003c0006t0001g0003 a0003c0006t0001g0237 a0003c0006t0001g0240 a0003c0006t0008g0236 a0003c0019t0001g0090 a0003c0019t0001g0091 a0003c0021t0001g0239 a0004c0007t0001g0005 a0004c0007t0001g0299 a0004c0007t0001g0309 a0004c0007t0001g0310 a0004c0022t0001g0301 a0004c0045t0010g0089 a0005c0005t0001g0302 a0005c0005t0006g0232 a0005c0005t0006g0233 a0005c0005t0006g0245 a0005c0005t0006g0246 a0005c0005t0006g0247 a0006c0008t0001g0163 a0006c0008t0001g0171 a0006c0008t0001g0190 a0006c0008t0001g0219 a0007c0009t0007g0128 a0007c0009t0007g0129 a0007c0009t0007g0226 a0007c0009t0007g0227 a0008c0010t0001g0261 a0008c0010t0001g0262 a0008c0010t0008g0006 a0008c0010t0008g0007 a0009c0013t0005g0100 a0009c0013t0005g0104 a0009c0013t0005g0105 a0010c0026t0001g0121 a0010c0027t0001g0135 a0010c0049t0001g0053 a0011c0014t0001g0086 a0011c0014t0001g0264 a0011c0014t0001g0265 a0012c0012t0002g0108 a0012c0012t0002g0153 a0012c0012t0002g0154 a0013c0017t0001g0009 a0013c0017t0005g0101 a0014c0018t0005g0102 a0014c0018t0005g0103 a0015c0023t0001g0134 a0015c0048t0001g0096 a0016c0031t0003g0124 a0016c0050t0003g0059 a0017c0016t0003g0148 a0017c0016t0004g0294 a0018c0032t0002g0213 a0018c0051t0003g0289 a0019c0020t0001g0234 a0020c0040t0001g0206 a0021c0042t0005g0099 a0022c0061t0002g0042 a0023c0043t0001g0095 a0024c0038t0008g0238 a0025c0030t0001g0114 a0026c0029t0001g0203 a0027c0028t0001g0165 a0028c0025t0001g0202 a0029c0024t0001g0235 a0030c0062t0001g0094 a0031c0047t0001g0255 a0033c0044t0001g0268 a0034c0053t0010g0093 a0035c0054t0001g0258 a0036c0035t0004g0306 a0037c0058t0002g0044 a0038c0057t0003g0273 a0039c0056t0001g0257 a0040c0033t0004g0304 a0041c0034t0004g0300 a0042c0052t0001g0079 a0043c0039t0009g0230 a0044c0064t0001g0218 a0045c0065t0001g0194	315	316	0.9968	-363	c.274 others(17): Show c.2743+280_2743+642del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD5_chr17_30826966_30900869	30859685	CGGTCTCA others(356): Show CGGTCTCACTTTGTTGCCCAGGCTAGAATACAGTTTGTTTGTTTGTTTAT TTATTTTTATTTTTTGAGACGGCGTCTTGCTCTGCCGCCCAGGCAGTGGT GTGATCTCGGCTCACTGCAGCCTCAGCCTTCTAGGTTCCACCGATTCTCC TGCTTCTGCCTCCTAGGTAGCTGAGATTACAGGCACACGCCACCATGCCT GGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAG GCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTATTTATTTAT TTTTTAAGAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01346.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0019 a0002c0002 a0002c0012 a0002c0019	a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 others(2): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 a0002c0012t0002 a0002c0019t0013	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(59): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0009g0031 a0002c0002t0009g0061 a0002c0002t0019g0035 a0002c0012t0002g0012 a0002c0019t0013g0065	64	286	0.2238	-363	c.295 others(17): Show c.2957-734_2957-372del	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNA1B_chr9_137872782_138129619	138126643	GCCCCCGG others(356): Show GCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGC CATGACACCGTGAGCAAGAGGGCACTGCAGTGCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGA GGGCCCTGCAGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03704.hp1 HG03017.hp2 HG03704.hp1	a0011 a0012 a0011 a0012	a0011c0037 a0012c0036 a0011c0037 a0012c0036	a0011c0037t0014 a0012c0036t0014 a0011c0037t0014 a0012c0036t0014	a0011c0037t0014g0048 a0012c0036t0014g0224 a0011c0037t0014g0048 a0012c0036t0014g0224	2	248	0.0081	-363	c.46 others(11): Show c.4645_*5007del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2025		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132914094	GCCCGAGG others(356): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp1 HG03453.hp2 HG02630.hp1 HG03017.hp1 HG03453.hp2	a0012 a0051 a0012 a0051	a0012c0025 a0012c0076 a0051c0105 a0012c0025 a0012c0076 a0051c0105	a0012c0025t0002 a0012c0076t0001 a0051c0105t0001 a0012c0025t0002 a0012c0076t0001 a0051c0105t0001	a0012c0025t0002g0007 a0012c0076t0001g0131 a0051c0105t0001g0239 a0012c0025t0002g0007 a0012c0076t0001g0131 a0051c0105t0001g0239	3	246	0.0122	-363	c.212 others(18): Show c.2121-1199_2121-837del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914226	GCCCGAGG others(356): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCC CCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	246	0.0041	-363	c.212 others(18): Show c.2121-1331_2121-969del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CLASP1_chr2_121332776_121654462	121611349	GGAACTGG others(356): Show GGAACTGGAGGAGGAGGTGTTGGAGGAGTTACAGGAGAAAGAGGAACTGG AGGAGGAGGAGGAGTTACAGGAGAAAGAGGAACTGGAGGATGATGAGGAG TTACAGGAGGAAGAGGAACTGGAGGAGGAGGCGTTGGAGGAGTTACAGGA AGAAGAGGAACTGGAGGAGGAGGAGTTGGAGGAGTTACAGGAGAAAGAGG AACTGGAGGAGGAAGAGGAGTTACAGGAGGAAGAGGAACTGGAGGAGGAG GAGTTGGAGGAGTTACAGGAGGAAGAGGAACTGGAGGAAGAGGAGGAGTT GGAGGAGTTACAGGAGGAAGAGGAACTGGAGGAGGAGGAGTTGGAGGAGT TACAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0172 a0001c0002t0011g0172	1	214	0.0047	-363	c.-28 others(19): Show c.-285-5532_-285-5170del	CLASP1	ENSG00000074054.21	transcript	ENST00000696935.1	protein_coding	1/40			chr2	TogoVar
CNST_chr1_246561456_246673595	246578024	TTTTTCTA others(356): Show TTTTTCTACATCTGTTTCCTTGGGTAAAAGGTAGTGAGAGACTTTAGTAT TGTAGTTCAATTGAACAAACATTAATTAAACACCGTTCATATGCCTGGGC TATGTTTTGGTGAGGATTGTAAAAGAAGTAATGGGCACATTCTCCTGCTG CAAGCATTCAAGCACTTGAATTCCAGATGGGAAATAATATATATGCATGA AATAACTTGAGAAAAATTCTAAAACAATAAATAAGCAAATTCGAGACAGT GTCTACTAAATACCAAATAAGTTACAGTGCTTTAAAATAAGCTCTAAAAT TATCGTGCTCTAAAAAATGGGTCTCTGAAAATGTTTCAGTGTGGATTCTG TATTAACCATTGCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0044 a0003c0003t0001g0044	1	320	0.0031	-363	c.-52 others(19): Show c.-52+11364_-52+11726del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(356): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCC CTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp1 HG01952.hp2 others(1): Show HG01192.hp1 HG01358.hp1 HG01952.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0262 a0001c0003t0002g0280 a0001c0003t0002g0282 others(1): Show a0001c0003t0002g0262 a0001c0003t0002g0280 a0001c0003t0002g0282 a0001c0003t0002g0293	4	404	0.0099	-363	c.197 others(17): Show c.1976+721_1977-431del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362250	CAGCACCA others(356): Show CAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCA CCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACC ACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCA CCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATC TCCACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCAC CACCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCA CCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0015 a0001c0001t0027g0015	1	230	0.0044	-363	c.544 others(19): Show c.544-11805_544-11443del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805904	CCCCCCTC others(356): Show CCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0044 a0003c0007t0001g0044	1	314	0.0032	-363	c.17 others(11): Show c.1739_*2101del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1618		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807649	CTCCCTCC others(356): Show CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0116 a0004c0004t0001g0116	1	314	0.0032	-363	c.34 others(11): Show c.3484_*3846del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3363		chr2	TogoVar
IPO7_chr11_9379652_9453127	9413581	TCTAACTA others(356): Show TCTAACTATGTAATACTGAGAAAGATAGTTAATTTCTGTGCCTCAGTTTC CTGAACTATCAAAGTGAGGATACTCATGTGGGCCTTGAAGATTTTTGACC TCATAATACATGTTCAGAAAATACTGGATAATCTTTACCCAAGGTTTTAT TCAAGATGCTTTCTTTTTATGGTTTTGCTCTAGATATTTTTCTTTTTCTA AATTGGTTAGGAAGTATTTGATTATATTTGTGTGAATAGTAGCAGCTGAT AAATAAAAAATTTCATTATGCCTCCTCATCTATATCAATTGATTCACAGT TAGAGACTGCATAGTCAAGTGGTTAAGAGGGCAGACCTTGGATTCCAGTT GCCTAGGTTCATGC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	314	0.0032	-363	c.480 others(15): Show c.480-642_480-280del	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNS3_chr2_17873667_17937958	17937595	TCAACGTT others(356): Show TCAACGTTTTACCAACTCCTGAGAAACTTGTTTCATCTCTCTGACTCACT TCCTCTTCTCCCCAGTTTATTTTGAAGCAAGTCTCAATCCTATCATTTAA TCCATAAATATTTCAGAAAGTATCTTTAAAAGAGCAATCTTTTTCTAAAC ATGATTACAATGCCATTAGTAAAACTAAAAATTAATGATGACTCCTTAAT GCTATGAAATAGCCAGCCTTAGTATTGCATAACCATCACTTTCTAGTTAC TTGGCATTTCTGAACACCTGGTTTGAGTAAGAATTTCTACAAATGTTATG CTAAAGAGTCACAGGAATGTAGTGAGCCTCAAAAAGTAATTGAAATGATG TCTGCTTAGAGTCT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG00733.hp1 others(49): Show HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG02922.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18612.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18957.hp1 NA18968.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19086.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0001c0001t0004 a0008c0015t0001 a0001c0001t0001 a0001c0001t0004 a0008c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0354 a0001c0001t0004g0305 a0001c0001t0004g0320 a0001c0001t0004g0321 a0008c0015t0001g0097	52	384	0.1354	-363	c.51 others(11): Show c.5112_*5474del	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding		4638		chr2	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(356): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCA TACGTAGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATAT CATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGATAC ATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAGAT ACATATCATACGTAGTAAGTTTGCCATCTATCTATATATCATCTATACAG ATACATATCATACG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01257.hp2 others(22): Show HG00733.hp1 HG01074.hp2 HG01257.hp2 HG01358.hp1 HG02280.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA19043.hp2 NA20752.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 others(6): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0016 a0002c0002t0022 a0002c0002t0024 a0002c0002t0046 a0002c0002t0056 a0002c0002t0057	a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 others(22): Show a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0142 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0045 a0002c0002t0009g0046 a0002c0002t0012g0070 a0002c0002t0012g0071 a0002c0002t0012g0073 a0002c0002t0012g0074 a0002c0002t0016g0011 a0002c0002t0022g0014 a0002c0002t0022g0015 a0002c0002t0024g0017 a0002c0002t0024g0018 a0002c0002t0046g0043 a0002c0002t0056g0028 a0002c0002t0057g0027	25	258	0.0969	-363	c.131 others(17): Show c.1319+501_1319+863del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NBPF11_chr1_148097151_148157281	148138111	GCATCATA others(356): Show GCATCATAAACAAGGTAAAGAAAAAAGTGCTGTGCTTTTGATGTGCATAT ACATAAACATCTCAATGCCTTAAAGAGCAGTATTGCTGCCAGCATGTCCC ACCTCCAGTCCTAAGGCGGTTTTCTCCTATCTCAGTAGATGGAATATACA ATCGGGCTTTACACCGAGACATTCCATTGCCCAGGGATGAGCAGGAGACA GATGCCTTCCTCTTATCTCAACTGCAAAGAGGCCTTCCTTCCTCTTTTAC TAATCCTCCTCAGCACAGACCCTTTACGGGTGTCGGGCTGGGGGACAGTC AGGTCTTTCCCTTCCCATGAGGCTGTATTTCAGACTATGACATGGGGAGA AACCTTGGACAATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0138 a0001c0001t0001g0060 a0001c0001t0001g0138	2	388	0.0052	-363	c.-27 others(17): Show c.-276-665_-276-303del	NBPF11	ENSG00000263956.8	transcript	ENST00000682118.1	protein_coding	2/23			chr1	TogoVar
NCOR2_chr12_124319415_124572612	124467465	TCCTCATC others(356): Show TCCTCATCCTCATCACCCCCATCACCCTCATCCTCATCACCCCCATCATC CTCATCCTCATCACCCCCATCACCCTCATCCTCATCACCCCCATCGTCCT CATCCTCATCACTGTCATCCTCATCCCTCCCCTCATCTTCATCCTCATTA CCCCCCTCATCTTCATCATCTTCACCCCATCATCCTTATCTTCATCACCC CATCACCCTTATCATCCTCATGACCTCCATCATCCTTATCACCCTCATCA TCCTCATCACCCTCATCCTCATCACCCCATCACCCTCATCTTCATCACCC CCATCACCCTCATCATCCTTATCCTCATCACCCCCATCATCCTCATCCTT ATCACCCCCATCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0036 a0002c0040t0036	a0002c0040t0036g0151 a0002c0040t0036g0151	1	234	0.0043	-363	c.592 others(17): Show c.592-1542_592-1180del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NEU4_chr2_241804193_241822413	241807649	CTCCCTCC others(356): Show CTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0009 a0000c0011t0009	a0000c0011t0009g0010 a0000c0011t0009g0010	1	319	0.0031	-363	c.-16 others(11): Show c.-1628_-1266del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1543		chr2	TogoVar
NRDC_chr1_51784210_51883727	51849647	TCTACTAA others(356): Show TCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCTGGCACCTGTAG TCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCAGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCGGGGCGA CAGAGCGAGACTCTGTCTCAAAAACAAAAAAAAAGAAAGAAAAGGAAAGG AAGAACAAGGGGAAGGAACTGCCTTACCAGGTATAAAAATACAGACTTTA GGCTGGGTGTAGTGGCCCACGCCTCTAATCCCAGCACTTTGGGAGGCTAA GGCAGGCAGATCACTTGAGCCCAGGAGTTCATGATCAGCCTGCCCAACAT GGCGAAACCCTTCG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	244	0.0041	-363	c.342 others(17): Show c.342-9496_342-9134del	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
PRKCA_chr17_66297613_66815743	66799235	GTGGTGGT others(356): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTG GTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0050 a0001c0001t0097g0050	1	178	0.0056	-363	c.185 others(19): Show c.1855-4629_1855-4267del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
S1PR4_chr19_3173769_3185332	3174670	CCCTCATG others(356): Show CCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGAC GCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTC ATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTG TGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGTTCTCATGGG ACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACG CCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTC ATGGGACGCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02486.hp1 others(19): Show HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0001c0014t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0011t0001g0000 a0001c0014t0001g0000	22	418	0.0526	-363	c.-41 others(11): Show c.-4122_-3760del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4098		chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1289484	CTCCGTCC others(356): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0107 a0002c0003t0002g0107	1	290	0.0035	-363	c.166 others(17): Show c.1663-778_1663-416del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1106023	ACGTGCTG others(356): Show ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGG ACACCTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGT GGACACCTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATA GTGGACACATGCTGTCACTCGGGTTCAGGGTATGGAGAGCTCCTTGGTAA TAGTGGATGCGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGATGTGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG ATAATAATGGACACGTGCTGTCACTCGGTGCAGGGTATGGAGAGCTCCTT GGTAATAGTGGATG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp2 HG03471.hp1 others(2): Show HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA20129.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0014 a0005c0006 a0001c0002 a0004c0014 a0005c0006	a0001c0002t0001 a0001c0002t0002 a0004c0014t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0004c0014t0002 a0005c0006t0002	a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0002g0002 others(2): Show a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0002g0002 a0004c0014t0002g0001 a0005c0006t0002g0003	5	190	0.0263	-363	c.325 others(17): Show c.325+7638_325+8000del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)