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
CCDC126_chr7_23592382_23649708	23637220	CGCCCGGC others(171): Show CGCCCGGCCGGCCGCCCCGTTCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCTTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCTCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	380	0.0026	-178	c.239 others(17): Show c.239-5702_239-5525del	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC73_chr11_32597721_32799662	32755857	GTATATAT others(171): Show GTATATATCTCCATATATATATCTGTGTATATATCTCCATATATATCTAT ATATATCTCCATATATATATCTATATATATATCTCCATATATATATCTAT ATATATATCTCCATATATATATCTATATATATATCTCCATATATATATCT ATATATATATCTCCATATATATATCTATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03017.hp1 others(6): Show HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0189 others(6): Show a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204	9	312	0.0289	-178	c.135 others(17): Show c.135+4074_135+4251del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CERCAM_chr9_128415857_128442347	128437860	TACACATA others(171): Show TACACATACACGTATATACACGTATATACACATACACGTATATACACGTA TATACACATACACGTATATACACGTATATACACACACGTATATACACGTA TATACACACACGTATATACACGTATATACACACACGTATATACACGTATA TACACACACGTATATACACGTATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(130): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0022 a0001c0024 a0002c0004 a0002c0007 a0002c0016 a0003c0008 a0006c0018 a0009c0019 a0010c0017 a0011c0015	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 others(15): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0002 a0001c0022t0002 a0001c0024t0002 a0002c0004t0002 a0002c0007t0002 a0002c0016t0002 a0003c0008t0002 a0006c0018t0002 a0009c0019t0002 a0010c0017t0002 a0011c0015t0002	a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0067 others(80): Show a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0067 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0154 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0190 a0001c0002t0004g0006 a0001c0003t0002g0011 a0001c0003t0002g0191 a0001c0009t0002g0023 a0001c0010t0002g0003 a0001c0010t0002g0006 a0001c0010t0002g0076 a0001c0011t0002g0042 a0001c0012t0002g0042 a0001c0012t0002g0188 a0001c0022t0002g0078 a0001c0024t0002g0095 a0002c0004t0002g0012 a0002c0004t0002g0205 a0002c0004t0002g0207 a0002c0004t0002g0213 a0002c0007t0002g0012 a0002c0007t0002g0203 a0002c0016t0002g0206 a0003c0008t0002g0048 a0003c0008t0002g0049 a0003c0008t0002g0211 a0006c0018t0002g0050 a0009c0019t0002g0057 a0010c0017t0002g0220 a0011c0015t0002g0027	133	400	0.3325	-178	c.10 others(11): Show c.1013_*1190del	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		514		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20356193	GAGGGGAG others(171): Show GAGGGGAGGTGGTCATACTGTGAGTGAGGAGCTAGTCACACTGAGGGGAG GGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACA CTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGT GGTCATACTGTGAGGGGAAGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	236	0.0085	-178	c.351 others(19): Show c.3514-4016_3514-3839del	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
COL6A1_chr21_45976770_46010048	45988116	CGGGAGTC others(171): Show CGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGG TCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCA GATGGAGGGGACGGCGGGGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	128	0.0078	-178	c.804 others(15): Show c.804+466_804+643del	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
DCDC2C_chr2_3698575_3853008	3725653	GGAGGGAG others(171): Show GGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGG AGATGAGCAAAGAGTGACGAGGCTGGCCAGGTGGATCCCGGAGAGAGACT GCCAGAGAGTGATGAGGGTGGCCAGGTGGATCCCGGAGGGAGATGAGTAG AGAGTGATAAGGCTGCTCGGTGGATCCCA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0207 a0002c0004t0003g0207	1	324	0.0031	-178	c.340 others(17): Show c.340-1330_340-1153del	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132134758	CCGAGTGT others(171): Show CCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03130.hp1 HG03139.hp1 others(1): Show HG02109.hp2 HG03130.hp1 HG03139.hp1 NA19043.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0016 a0003c0006t0006g0016	4	334	0.0120	-178	c.43 others(11): Show c.4336_*4513del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1835		chr12	TogoVar
DDX51_chr12_132131594_132149319	132136114	CGCTCCTC others(171): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	334	0.0030	-178	c.29 others(11): Show c.2980_*3157del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		479		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2276887	AGGGGAAA others(171): Show AGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAG GGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAGAGA GAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGGAGGAGAGGGAGGAAATAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	-178	c.389 others(18): Show c.389-10118_389-9941del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	608315	ACACACAC others(171): Show ACACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAG CCCCCCCCACACACAGCCCCCCACACACACACCCCCACAGCCCCCCACAC ACACCCCCAGCCCCCCCCACACACACCCCCCCCACACCCATCCCCCCACA CCCACACACACACCCACACACCCCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	88	0.0114	-178	c.85+ others(17): Show c.85+81001_85+81178del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPH7_chr9_137549444_137583925	137565662	TCTGTCTG others(171): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01169.hp2 others(12): Show HG00438.hp2 HG00609.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG02015.hp2 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG03942.hp2 HG04228.hp1 NA18747.hp1 NA18957.hp1 NA18962.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0045 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0219	15	340	0.0441	-178	c.641 others(15): Show c.641-686_641-509del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565927	CTCTGTCT others(171): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	340	0.0029	-178	c.641 others(15): Show c.641-951_641-774del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566388	TGGGTGAC others(171): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp2 NA21309.hp2 HG01123.hp1 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0288 a0001c0001t0002g0303 a0001c0001t0002g0309	3	340	0.0088	-178	c.641 others(17): Show c.641-1412_641-1235del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566694	TCTGTCTG others(171): Show TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18962.hp1 HG02886.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0002g0286 a0001c0001t0001g0185 a0001c0001t0002g0286	2	340	0.0059	-178	c.641 others(17): Show c.641-1718_641-1541del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566842	ACTCTGTC others(171): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG02015.hp2 others(7): Show HG00621.hp1 HG00733.hp2 HG02015.hp2 HG02735.hp2 HG03942.hp2 NA18747.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0219 a0001c0011t0001g0315	10	340	0.0294	-178	c.641 others(17): Show c.641-1866_641-1689del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567540	TGGGTGAC others(171): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGG GGTGACTCTGTCCGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	340	0.0029	-178	c.641 others(17): Show c.641-2564_641-2387del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EMCN_chr4_100390341_100523022	100469477	AAAATGAA others(171): Show AAAATGAAAAAGCAGCTTACAAATTGAGAAAAATAATTTGTAAATTATAT ATCTGATAAGGAGTTAATAGTCAAAGTTTATAAAATAATTATTTAATTTA AGTCTTTAATCTATCGAGTTAATTTTTGAATATGGTGTAAAGAAGGGGTA CAGTTTTAATCTTCTGCATATGGCTAGCC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00673.hp1 others(56): Show HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02300.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18955.hp1 NA18973.hp1 NA18979.hp2 NA19001.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0002c0002t0006 a0003c0003t0002 a0004c0005t0017 a0005c0007t0002	a0001c0001t0001g0182 a0001c0001t0002g0003 a0001c0001t0002g0127 others(55): Show a0001c0001t0001g0182 a0001c0001t0002g0003 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0157 a0001c0001t0012g0180 a0001c0001t0012g0238 a0001c0001t0013g0246 a0001c0001t0027g0247 a0001c0001t0029g0159 a0001c0001t0032g0254 a0001c0001t0033g0141 a0001c0001t0034g0140 a0002c0002t0006g0053 a0003c0003t0002g0172 a0004c0005t0017g0019 a0004c0005t0017g0020 a0005c0007t0002g0209	59	262	0.2252	-178	c.260 others(17): Show c.260-4116_260-3939del	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EML5_chr14_88607431_88797953	88796214	ATATATAT others(171): Show ATATATATTATATGTTATATATATTATATATATTATATATATATTATATG TTATATATATTATATATATATTATATGTTATATATATTATATATATATTA TATGTTATATATATTATATATATATTATATGTTATATATTTTATATATAT ATTATATGTTATATATATTATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	332	0.0030	-178	c.-38 others(11): Show c.-3889_-3712del	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3262		chr14	TogoVar
EPHX1_chr1_225805124_225850563	225819063	TAAAAATA others(171): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	422	0.0024	-178	c.-6+ others(15): Show c.-6+8900_-6+9077del	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERBIN_chr5_65921575_66087546	65940466	GGGGGGTC others(171): Show GGGGGGTCAGTCCCCCCCCCCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	306	0.0033	-178	c.-58 others(19): Show c.-58+13666_-58+13843del	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERO1B_chr1_236210101_236286958	236245366	ATACGTAT others(171): Show ATACGTATATATATACACACGTATATATATACGTATATATATACACACGT ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACACGTATATATATACGTATATATATACACGTATATATATATGTGTGTAT GTATGTGTGTGTATATATATGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	396	0.0025	-178	c.432 others(17): Show c.432-2049_432-1872del	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EXOC6B_chr2_72170984_72831033	72401494	CATATATA others(171): Show CATATATATATATATATATATACATATATACATATATATATATATATATA TGTGTATATATATATATATATACATATATATATATATACATATATATATA TATATATATGTGTATATATATATATATACATATATATATATATACATATA TACATATATATATATATATATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA20752.hp1 HG01168.hp2 HG01169.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0014 a0001c0002t0004g0103 a0001c0002t0004g0104 a0001c0002t0004g0014 a0001c0002t0004g0103 a0001c0002t0004g0104	3	104	0.0289	-178	c.198 others(21): Show c.1981-21802_1981-21625del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
FAM210A_chr18_13658347_13731558	13675487	ATTTCCAG others(171): Show ATTTCCAGCTTCCTGATTATTAACATTCCTGAGCCCTGGCCTCTTTATTT CCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTT CCTGATTATTAACATTTCTGAGCCCTGGCCTCTTTATTTCCAGTTTCCTG ATTATTAACATTCCTGAGCCCTGGCTTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00673.hp1 others(46): Show HG00140.hp2 HG00280.hp2 HG00673.hp1 HG00735.hp2 HG01167.hp2 HG01256.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp2 NA18906.hp1 NA18949.hp1 NA18952.hp2 NA18961.hp2 NA18964.hp2 NA18999.hp1 NA19058.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0048 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0007g0053 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0008g0163 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0013g0049 a0001c0001t0017g0097 a0001c0001t0020g0007 a0001c0001t0025g0290 a0001c0001t0026g0029 a0001c0001t0048g0289 a0001c0003t0001g0034	49	326	0.1503	-178	c.474 others(17): Show c.474-3692_474-3515del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FOXN3_chr14_89151177_89422233	89361272	ACCTCCAC others(171): Show ACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCA GCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACC TCCACCACCACCTCCTACCACTACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0168 a0001c0001t0023g0168	1	230	0.0044	-178	c.544 others(19): Show c.544-10642_544-10465del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805903	TCCCCCCT others(171): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	314	0.0032	-178	c.17 others(11): Show c.1738_*1915del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1617		chr2	TogoVar
GARIN5B_chr19_55349908_55368260	55361638	TCCAGGGC others(171): Show TCCAGGGCCCCAGCCTCTCCTCCCTTGACTCAGGGGTCCAGGCCTCAGTT CCTCCTCCCTCAGACCCAGGAGTCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTTCAGACTGCCAGCCCTCCACCCTCAGACCCAGGAGTCCAGACCCCA CAGCCCCTCCTCCCTCAGACCCAGGAGTC	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0043 a0016c0018t0001g0043	1	356	0.0028	-178	c.565 others(15): Show c.565-382_565-205del	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GNG12_chr1_67696475_67838467	67710002	ATATATAT others(171): Show ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAG TTATATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02818.hp1 HG02886.hp2 others(1): Show HG02486.hp1 HG02818.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0181 a0001c0001t0006g0182 others(1): Show a0001c0001t0006g0175 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0265	4	274	0.0146	-178	c.-26 others(17): Show c.-26-2468_-26-2291del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346348	GGACCCAG others(171): Show GGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGG ACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGG ACCCGGGAGGACCTCTGTGGCAAAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01934.hp1 others(1): Show HG00140.hp2 HG01175.hp2 HG01934.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0118	4	288	0.0139	-178	c.466 others(17): Show c.466-1567_466-1390del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346372	GAGAGCGG others(171): Show GAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACAT CTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAA GAGCAGACCCGGGAGGACCTCTGTGGCAA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	288	0.0035	-178	c.466 others(17): Show c.466-1591_466-1414del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346501	CGGGAGGA others(171): Show CGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAA AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	288	0.0035	-178	c.466 others(17): Show c.466-1720_466-1543del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346640	GAGAGCGG others(171): Show GAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCT CTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCC GGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAA GAGCAGACCCGGGAGGACCTCTGTGGACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	288	0.0035	-178	c.466 others(17): Show c.466-1859_466-1682del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347125	CGGGAGGA others(171): Show CGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAG AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACC CGGGAGGACCTCTGTGGCTGAGCGGATCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0003 a0008c0012t0003 a0001c0001t0003 a0008c0012t0003	a0001c0001t0003g0267 a0008c0012t0003g0268 a0001c0001t0003g0267 a0008c0012t0003g0268	2	288	0.0069	-178	c.466 others(17): Show c.466-2344_466-2167del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347183	CCCAGGAG others(171): Show CCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACC CGGGAGGACCTCTGTGGCCAAGAACAGAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	288	0.0035	-178	c.466 others(17): Show c.466-2402_466-2225del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347200	GGCCGAGA others(171): Show GGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGA GGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGG ATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGG CCAAGAACAGATCCGGGAGGACCTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG04199.hp1 HG01257.hp1 HG01258.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0100	3	288	0.0104	-178	c.466 others(17): Show c.466-2419_466-2242del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347586	GGCTGAGA others(171): Show GGCTGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGA GGACCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAG ACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGG CCAAGAACAGATCCGGGAGGACCTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	288	0.0035	-178	c.466 others(17): Show c.466-2805_466-2628del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347589	TGAGAACA others(171): Show TGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACC CGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCA AGAACAGATCCGGGAGGACCTCTGAAGCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	288	0.0035	-178	c.466 others(17): Show c.466-2808_466-2631del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HTR1E_chr6_86932528_87021679	87010153	ACCTCCCG others(171): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGATGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCTCAGT AGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCTGACCCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(93): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01192.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03540.hp1 HG03579.hp1 HG04115.hp1 HG04204.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0003c0006t0003 a0004c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0253 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0007g0022 a0001c0001t0007g0023 a0003c0006t0003g0201 a0004c0007t0002g0131	96	300	0.3200	-178	c.-18 others(19): Show c.-185-4962_-185-4785del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTRA1_chr10_122456553_122519907	122457569	TGATGTGG others(171): Show TGATGTGGGTTTGTCATCAGGGTGTACCTGCTGTTAAAGGAGGTTACGAC CTCTGATGCTGGGGTGGCCAGAGGGGATGGGAGTGGGTCTGGCACTCTGA GGAAAGGGGGTGAAACCAGCTGAGAAGTCATCTTTTACCTGCTGGCATGG CCCCAGCCAGGGTTCTGTTGCTATGGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(98): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0337 a0001c0002t0001g0338	101	362	0.2790	-178	c.-40 others(11): Show c.-4083_-3906del	HTRA1	ENSG00000166033.13	transcript	ENST00000368984.8	protein_coding		3983		chr10	TogoVar
IFT81_chr12_110119357_110223793	110174279	AAAAAAAA others(171): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGTGTG CCTGTAATCCCAGCTACTTAGGAGGCTGAGGCCAGAGAATTGCTTGAACC TGGGAGGCGGAGGTTGCAGTGACCCGAGATTGCACCATTGCATTCCAGCC TGGGAGACAAGAGCAAGACTCCGTCTCAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	218	0.0046	-178	c.118 others(19): Show c.1189-6122_1189-5945del	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IPCEF1_chr6_154149496_154361803	154357650	TATATAAT others(171): Show TATATAATATATATATTATATATATATTATATATATATTATATATAATAT ATATATTATATATATATTATATATATAATATATATATTATATATATTATA TATATATAATATATAAAATATATATATTATATATATAAAATATATATAAT ATATATAATATATATATAAAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	264	0.0038	-178	c.-12 others(11): Show c.-1218_-1041del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		848		chr6	TogoVar
KCNG2_chr18_79792938_79905100	79807767	TGAGGAGC others(171): Show TGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCTCGCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	312	0.0032	-178	c.-11 others(19): Show c.-115+9754_-115+9931del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3			chr18	TogoVar
KCNIP1_chr5_170499020_170741632	170517738	TGGTGATG others(171): Show TGGTGATGGTGATAATGGTAATGATGGTAGTGATGGTGGTGGTGGTAGTG ATGATGGTGAAGTGATAGTGATGGTGGTGGTTATGGAGGTGGTGATGGTG ATAATGGTAATGATGGTAGTGATGGTGGTGGTGGTAGTGATGATGGTGAA GTGATAGTGATGGTAGTGGTTATGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0078 a0001c0001t0017g0078	1	218	0.0046	-178	c.61+ others(17): Show c.61+13138_61+13315del	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170517771	TGGTGGTG others(171): Show TGGTGGTGGTGGTAGTGATGATGGTGAAGTGATAGTGATGGTGGTGGTTA TGGAGGTGGTGATGGTGATAATGGTAATGATGGTAGTGATGGTGGTGGTG GTAGTGATGATGGTGAAGTGATAGTGATGGTAGTGGTTATGGAGGCGGTG ATGGTGATAATGGTAATGATGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	218	0.0046	-178	c.61+ others(17): Show c.61+13199_61+13376del	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KDM6A_chrX_44868188_45117779	45041083	ACCCCTCA others(171): Show ACCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC ACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0127 a0004c0006t0003g0128 a0004c0006t0003g0127 a0004c0006t0003g0128	2	199	0.0101	-178	c.654 others(17): Show c.654+3412_654+3589del	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KNDC1_chr10_133155219_133231412	133223199	GAGAGCCC others(171): Show GAGAGCCCATCCAGGCATGCTCTTCCCGGTGTGTGTGTGTGTGAGAGCCC ATCCAGGCATGCTCTTCTCGGCATGTGTGTGTGTGTGTGTGTGAGAGCCC ATCCAGGCATGCTGTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCC AGGCATGCTCTTCTCGGCGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02145.hp1 HG02818.hp2 others(5): Show HG00733.hp1 HG02145.hp1 HG02818.hp2 HG02886.hp2 HG03139.hp1 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0003 a0003	a0003c0011 a0003c0034 a0003c0011 a0003c0034	a0003c0011t0001 a0003c0034t0011 a0003c0011t0001 a0003c0034t0011	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(5): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0034t0011g0313	8	332	0.0241	-178	c.501 others(19): Show c.5019-1459_5019-1282del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29			chr10	TogoVar
LMF1_chr16_848634_975984	952855	CCACCCCA others(171): Show CCACCCCAAACCAGCCTCCTACACATCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCAC GTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACATATCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(7): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02027.hp1 HG02738.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0014 others(2): Show a0001c0001 a0003c0009 a0003c0014 a0003c0030 a0003c0032	a0001c0001t0002 a0003c0009t0001 a0003c0014t0001 others(2): Show a0001c0001t0002 a0003c0009t0001 a0003c0014t0001 a0003c0030t0002 a0003c0032t0001	a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 others(7): Show a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0007 a0003c0014t0001g0009 a0003c0030t0002g0008 a0003c0032t0001g0006	10	294	0.0340	-178	c.503 others(17): Show c.503+1324_503+1501del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	952879	ATCCACAC others(171): Show ATCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAG CCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCAC ACAGACACCCCAAACCAGCCTCCTACACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01361.hp1 others(19): Show HG00099.hp1 HG00597.hp2 HG01361.hp1 HG01517.hp1 HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02896.hp2 HG02970.hp2 HG03579.hp1 HG03688.hp2 HG04228.hp2 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19043.hp2 NA19068.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0021	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0020 a0001c0023 a0001c0060 a0002c0052 a0006c0021 a0006c0049 a0021c0062	a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 a0001c0004t0001 a0001c0020t0001 a0001c0023t0001 a0001c0060t0002 a0002c0052t0001 a0006c0021t0001 a0006c0021t0006 a0006c0049t0001 a0021c0062t0008	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(19): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0019g0258 a0001c0003t0001g0124 a0001c0003t0001g0250 a0001c0004t0001g0075 a0001c0020t0001g0099 a0001c0023t0001g0244 a0001c0060t0002g0128 a0002c0052t0001g0018 a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0049t0001g0243 a0021c0062t0008g0212	22	294	0.0748	-178	c.503 others(17): Show c.503+1300_503+1477del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953401	CCACCCCA others(171): Show CCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCAC GTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACATATCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	294	0.0034	-178	c.503 others(15): Show c.503+778_503+955del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRIG2_chr1_113068198_113137260	113070057	CGCCCGGC others(171): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC CGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	268	0.0037	-178	c.-33 others(11): Show c.-3349_-3172del	LRIG2	ENSG00000198799.12	transcript	ENST00000361127.6	protein_coding		3140		chr1	TogoVar
LRRC4B_chr19_50511892_50573435	50526858	TTTTTTTT others(171): Show TTTTTTTTTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGATGGAGTG CAGTGGCACAATCTTGGCTTACTACAACCTCTGGCTCCCGGGTTCATGCA ATTCTCTTGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACACGCCAC TACGCCCGGCTAATTTTTGTATTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG04228.hp1 HG01074.hp2 HG01255.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0079 a0001c0001t0011g0217 a0001c0001t0012g0055 a0001c0001t0002g0079 a0001c0001t0011g0217 a0001c0001t0012g0055	3	360	0.0083	-178	c.298 others(17): Show c.298-7621_298-7444del	LRRC4B	ENSG00000131409.13	transcript	ENST00000652263.1	protein_coding	2/2			chr19	TogoVar

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Search Results (Total: 10000 hits)