Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
APLP2_chr11_130064894_130149805	130095877	AATGATGA others(87): Show AATGATGAGCTACTGCATGCTAGGGGCTGTTCCCAGATAACAGTGGTTAG GAAAATACATGAGGCCTCTCCCCTTGACGAAGTCACATTCTAGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	274	0.0037	-94	c.106 others(113): Show c.106-13548_106-13455delATGAGCTACTGCATGCTAGGGGCTGT TCCCAGATAACAGTGGTTAGGAAAATACATGAGGCCTCTCCCCTTGACGA AGTCACATTCTAGTGATG	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116825447	CTGGCTTG others(87): Show CTGGCTTGAGCAGAATCTTGGGACCTGAGGCTCTCAGGGGACCTCCCATT GGGGGATGGAGGGCAATGGTGGTGGTGCCCAGGAGGTCTTCTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	-94	c.-23 others(105): Show c.-2350_-2257delAGTAGAAGACCTCCTGGGCACCACCACCATTGCC CTCCATCCCCCAATGGGAGGTCCCCTGAGAGCCTCAGGTCCCAAGATTCT GCTCAAGCCA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2144		chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24656844	GGGGTCGG others(87): Show GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01496.hp2 others(3): Show HG00438.hp1 HG01255.hp1 HG01496.hp2 HG01928.hp1 HG03927.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0094 others(3): Show a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0140	6	352	0.0171	-94	c.268 others(113): Show c.268+10047_268+10140delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ASB5_chr4_176208673_176274222	176219185	CATATAAA others(87): Show CATATAAATATATATATTTGTATGACAGATAAATATATATATTTGTATGA TATATAAATATATATGTATGATATATAAATATATATTTGTATGAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	410	0.0024	-94	c.670 others(111): Show c.670+1876_670+1969delATCATACAAATATATATTTATATATCAT ACATATATATTTATATATCATACAAATATATATATTTATCTGTCATACAA ATATATATATTTATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATF2_chr2_175067259_175173203	175108302	ACCCCGTC others(87): Show ACCCCGTCCGGGAGGGAGGTGGGGGGTCAACCCCCGCCCGGCCAGCCGCC TCGTCCGGGAGGGAGGTGGGGGGTCAGCGTCCACCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	224	0.0045	-94	c.828 others(111): Show c.828+3172_828+3265delCGGCTGGCCGGGTGGACGCTGACCCCCC ACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGGGTTGACCCCCCACC TCCCTCCCGGACGGGG	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATF2_chr2_175067259_175173203	175108401	GTCCGGGA others(87): Show GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCAGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG04199.hp2 NA18948.hp1 HG02074.hp2 HG04199.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199	3	224	0.0134	-94	c.828 others(111): Show c.828+3073_828+3166delAGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGCTGACCCC CCACCTCCCTCCCGGA	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112749886	CGCGGGGT others(87): Show CGCGGGGTTGAATCCCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAA GGAGAGTCTCCATCCTCCCACGTGGGGACATGCCTGCTGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp2 HG01891.hp2 others(10): Show HG00621.hp2 HG01123.hp2 HG01891.hp2 HG02148.hp1 HG02735.hp1 HG02886.hp2 HG03017.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 NA18971.hp1 NA19002.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0011	a0001c0002 a0001c0004 a0001c0017 others(7): Show a0001c0002 a0001c0004 a0001c0017 a0001c0044 a0002c0003 a0002c0048 a0003c0008 a0005c0018 a0007c0033 a0011c0041	a0001c0002t0001 a0001c0004t0006 a0001c0017t0058 others(8): Show a0001c0002t0001 a0001c0004t0006 a0001c0017t0058 a0001c0044t0045 a0002c0003t0001 a0002c0003t0002 a0002c0048t0008 a0003c0008t0001 a0005c0018t0001 a0007c0033t0001 a0011c0041t0001	a0001c0002t0001g0167 a0001c0004t0006g0058 a0001c0004t0006g0061 others(10): Show a0001c0002t0001g0167 a0001c0004t0006g0058 a0001c0004t0006g0061 a0001c0017t0058g0053 a0001c0044t0045g0133 a0002c0003t0001g0059 a0002c0003t0002g0027 a0002c0048t0008g0165 a0003c0008t0001g0170 a0005c0018t0001g0009 a0005c0018t0001g0168 a0007c0033t0001g0166 a0011c0041t0001g0169	13	254	0.0512	-94	c.40- others(111): Show c.40-35169_40-35076delTGCCTGCTGAAGGAAGCGGGGTTGAATC CCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATC CTCCCACGTGGGGACA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82958798	TGTGTGTG others(87): Show TGTGTGTGTGTGTATACTGTGTGGGGGTGTATGGTGTGTGTGTGTGTACA CTGGGGGTGTATGGTGTGTGTGTGTGTGTACACTGGGGGTGTATG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	266	0.0038	-94	c.681 others(111): Show c.681-1398_681-1305delCATACACCCCCAGTGTACACACACACAC ACACCATACACCCCCAGTGTACACACACACACACCATACACCCCCACACA GTATACACACACACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958956	ATGTGTGT others(87): Show ATGTGTGTGTGTGTACACTGTGGGGGTGTATGGTGTGTGTGTGTGTATAC TGTGTGGGGGTGTATGGTGTGTGTGTATACTGTGGGGGTGTATGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0031 a0001c0006t0002g0031	1	266	0.0038	-94	c.681 others(111): Show c.681-1556_681-1463delCCATACACCCCCACAGTATACACACACA CCATACACCCCCACACAGTATACACACACACACACCATACACCCCCACAG TGTACACACACACACA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
BANP_chr16_87946434_88082316	87996460	AGCTGGGC others(87): Show AGCTGGGCTCTGGTTCTGAGTGTTGCTGGGCCCTCGTCCTGGGCGCCGGC TGGGCTCTGGTTCTGAGTGTTGCTGGTCCCTGGTCCTGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0015 a0002c0028t0015	a0002c0028t0015g0087 a0002c0028t0015g0087	1	352	0.0028	-94	c.363 others(111): Show c.363-7759_363-7666delTCCCTGGTCCTGGGCGCCGGCTGGGCTC TGGTTCTGAGTGTTGCTGGGCCCTCGTCCTGGGCGCCGGCTGGGCTCTGG TTCTGAGTGTTGCTGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BICD1_chr12_32101847_32388633	32346544	ATATATAT others(87): Show ATATATATATATATATATATATATATATATATATATATACGTGTATATAT ATATATATATATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02895.hp2 others(3): Show HG01891.hp2 HG02717.hp1 HG02895.hp2 HG03453.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 others(2): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0030 a0001c0001t0032	a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0154 others(3): Show a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0154 a0001c0001t0019g0191 a0001c0001t0030g0029 a0001c0001t0032g0033	6	290	0.0207	-94	c.276 others(113): Show c.2764+7586_2764+7679delTATATATATATATATATACGTGTATA TATATATATATATATATATATACGTGTATATATATATATATATACGTGTA TATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BLM_chr15_90712346_90821166	90819211	TTCCACGG others(87): Show TTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGTTC CACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG02615.hp1 others(2): Show HG01346.hp1 HG02109.hp2 HG02615.hp1 HG03516.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0004c0008 a0001c0009 a0004c0008	a0001c0009t0002 a0004c0008t0002 a0001c0009t0002 a0004c0008t0002	a0001c0009t0002g0076 a0004c0008t0002g0073 a0004c0008t0002g0074 others(2): Show a0001c0009t0002g0076 a0004c0008t0002g0073 a0004c0008t0002g0074 a0004c0008t0002g0075 a0004c0008t0002g0253	5	280	0.0179	-94	c.39 others(105): Show c.3933_*4026delTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGG GAAGGTGCCGGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAA GGTGCCGGGA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3046		chr15	TogoVar
BMP7_chr20_57163753_57271641	57198069	CTCCTCTC others(87): Show CTCCTCTCCTCTCGCTCTCCTCTCCCCCTTCTCTCCTCTTGCTCTCCTCT CCTCTCCCCTCCTCTCCTCTCGCTCTCCTCTCCCCCTCCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19005.hp2 NA19043.hp2 NA18963.hp2 NA19005.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0231 a0001c0001t0002g0063 a0001c0001t0009g0042 a0001c0001t0001g0231 a0001c0001t0002g0063 a0001c0001t0009g0042	3	272	0.0110	-94	c.760 others(111): Show c.760+4312_760+4405delTAGAGAGGAGGGGGAGAGGAGAGCGAGA GGAGAGGAGGGGAGAGGAGAGGAGAGCAAGAGGAGAGAAGGGGGAGAGGA GAGCGAGAGGAGAGGA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BRSK2_chr11_1384934_1467689	1429530	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0148 a0002c0002t0020g0148	1	360	0.0028	-94	c.92- others(109): Show c.92-6158_92-6065delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430472	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0269 a0002c0002t0005g0269	1	360	0.0028	-94	c.92- others(109): Show c.92-5521_92-5428delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430852	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0181 a0002c0002t0008g0181	1	360	0.0028	-94	c.92- others(109): Show c.92-5141_92-5048delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431183	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0290 a0001c0003t0004g0290	1	360	0.0028	-94	c.92- others(109): Show c.92-4810_92-4717delCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431230	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0299 a0001c0001t0024g0299	1	360	0.0028	-94	c.92- others(109): Show c.92-4669_92-4576delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431865	GTCTGGTC others(87): Show GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp2 NA18982.hp1 HG00408.hp2 NA18612.hp2 NA18982.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0009 a0002c0002t0008 a0005c0010t0002 a0001c0001t0009 a0002c0002t0008 a0005c0010t0002	a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085 a0001c0001t0009g0153 a0002c0002t0008g0151 a0005c0010t0002g0085	3	360	0.0083	-94	c.92- others(109): Show c.92-4174_92-4081delTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432364	CCAGCAGT others(87): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0058 a0001c0003t0004 a0002c0002t0058	a0001c0003t0004g0290 a0002c0002t0058g0325 a0001c0003t0004g0290 a0002c0002t0058g0325	2	360	0.0056	-94	c.92- others(109): Show c.92-3582_92-3489delTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432987	GTCTTCTG others(87): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG01258.hp2 others(5): Show HG00738.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02258.hp1 HG03540.hp1 NA18939.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0009 a0002c0002t0015 others(4): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0015 a0002c0002t0019 a0002c0002t0022 a0002c0002t0073 a0002c0008t0005	a0001c0001t0001g0069 a0001c0001t0009g0187 a0002c0002t0015g0330 others(4): Show a0001c0001t0001g0069 a0001c0001t0009g0187 a0002c0002t0015g0330 a0002c0002t0019g0042 a0002c0002t0022g0003 a0002c0002t0073g0217 a0002c0008t0005g0278	8	360	0.0222	-94	c.92- others(109): Show c.92-2973_92-2880delGCTCAGCAGTGAGCCTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD18_chr11_57738514_57756819	57754637	TTCCCTCC others(87): Show TTCCCTCCCTCCCTTCCTCCCTTCCTTCTTTCTGTCTTTCTTTTGTTTGC TTTGTTTCCTTTCTTTTTCCTCCCTCCCTTCCCCTCCCCTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	-94	c.-32 others(105): Show c.-3239_-3146delGGGGGAGGGGAGGGGAAGGGAGGGAGGAAAAAGA AAGGAAACAAAGCAAACAAAAGAAAGACAGAAAGAAGGAAGGGAGGAAGG GAGGGAGGGA	BTBD18	ENSG00000233436.8	transcript	ENST00000422652.6	protein_coding		2819		chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974180	CTGGGGCG others(87): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02572.hp1 HG03225.hp1 others(1): Show HG00140.hp2 HG02572.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0074 a0001c0001t0002 a0001c0001t0040 a0001c0001t0074	a0001c0001t0002g0054 a0001c0001t0002g0141 a0001c0001t0040g0176 others(1): Show a0001c0001t0002g0054 a0001c0001t0002g0141 a0001c0001t0040g0176 a0001c0001t0074g0111	4	414	0.0097	-94	c.-27 others(103): Show c.-277_-184delACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C2CD4C_chr19_400445_414147	404575	GGGGACGG others(87): Show GGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCC TGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	322	0.0031	-94	c.24 others(105): Show c.2427_*2520delTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTC CACACCCCTCAGGGCAGGACCCGTCTCCCCCTCAGACCCCTCAGGGCAGG ACCCCGTCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		869		chr19	TogoVar
C7orf50_chr7_992006_1143247	1127931	CATCTCGG others(87): Show CATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18986.hp2 NA19064.hp1 NA18522.hp2 NA18986.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0067 a0001c0001t0004g0199 a0001c0001t0012g0291 a0001c0001t0001g0067 a0001c0001t0004g0199 a0001c0001t0012g0291	3	326	0.0092	-94	c.-1- others(107): Show c.-1-639_-1-546delCGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGACAGGGTGGG ATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318496	GGGAAAGG others(87): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01168.hp1 others(3): Show HG00140.hp1 HG00738.hp2 HG01168.hp1 HG03490.hp1 HG03492.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0150 a0001c0002t0001g0156 others(2): Show a0001c0001t0001g0001 a0001c0002t0001g0150 a0001c0002t0001g0156 a0001c0002t0001g0215 a0001c0002t0001g0225	6	324	0.0185	-94	c.835 others(111): Show c.835-7597_835-7504delTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA2D3_chr3_54117552_55079557	54736037	ATATATAT others(87): Show ATATATATACACATACATATGTATGTATATATATATACATATATATGTAT GTGTATATATATACATATATATGTATATATATACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02080.hp2 HG02300.hp2 others(1): Show HG01192.hp1 HG02080.hp2 HG02300.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0033 others(1): Show a0001c0001 a0001c0009 a0001c0033 a0001c0042	a0001c0001t0001 a0001c0009t0008 a0001c0033t0001 others(1): Show a0001c0001t0001 a0001c0009t0008 a0001c0033t0001 a0001c0042t0001	a0001c0001t0001g0035 a0001c0009t0008g0077 a0001c0033t0001g0114 others(1): Show a0001c0001t0001g0035 a0001c0009t0008g0077 a0001c0033t0001g0114 a0001c0042t0001g0078	4	118	0.0339	-94	c.116 others(115): Show c.1168-16553_1168-16460delCACATACATATGTATGTATATATA TATACATATATATGTATGTGTATATATATACATATATATGTATATATATA CATATATATATGTATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1921487	CCACAGCC others(87): Show CCACAGCCACGAGGCCCTACCTGGCTGGAGCTGGCTTGATTTTAAAAATC ATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG01952.hp2 others(3): Show HG01256.hp1 HG01496.hp1 HG01952.hp2 HG02602.hp2 HG02922.hp2 NA18985.hp1	a0001 a0012 a0020 a0001 a0012 a0020	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0012c0026 a0020c0020	a0001c0001t0001 a0001c0001t0003 a0001c0005t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0004 a0001c0011t0011 a0012c0026t0021 a0020c0020t0006	a0001c0001t0001g0039 a0001c0001t0003g0180 a0001c0005t0004g0217 others(3): Show a0001c0001t0001g0039 a0001c0001t0003g0180 a0001c0005t0004g0217 a0001c0011t0011g0292 a0012c0026t0021g0188 a0020c0020t0006g0012	6	318	0.0189	-94	c.-31 others(105): Show c.-3108_-3015delAATTTGGTGGCATTCATCAGCTTCTTAAAATTTG TAATTTGGAATGATTTTTAAAATCAAGCCAGCTCCAGCCAGGTAGGGCCT CGTGGCTGTG	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2836		chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	TACCTGGC others(87): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02922.hp1 others(1): Show HG02109.hp2 HG02280.hp2 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0025 a0001c0001 a0001c0005 a0001c0025	a0001c0001t0002 a0001c0001t0015 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0005t0001 a0001c0025t0003	a0001c0001t0002g0150 a0001c0001t0015g0317 a0001c0005t0001g0258 others(1): Show a0001c0001t0002g0150 a0001c0001t0015g0317 a0001c0005t0001g0258 a0001c0025t0003g0054	4	318	0.0126	-94	c.-31 others(105): Show c.-3125_-3032delGGGGCCTCGTGGCTGTGAATTTGGTGGCATTCAT CAGCTTCTTAAAATTTGTAATTTGGAATGATTTTTAAAATCAAGCCAGCT CCAGCCAGGT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2853		chr12	TogoVar
CACNB2_chr10_18135424_18548557	18442920	ATATATGT others(87): Show ATATATGTATATATATATATATGTGTATATATATATATGTATATATATAT GTGTATATATATATATGTATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02040.hp2 HG02523.hp2 others(5): Show HG00423.hp2 HG02040.hp2 HG02523.hp2 NA18952.hp2 NA18984.hp1 NA18985.hp1 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0050 a0001c0002t0017	a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0131 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0050g0040 a0001c0002t0017g0164	8	200	0.0400	-94	c.333 others(113): Show c.333+40883_333+40976delGTATATATATATATATGTGTATATAT ATATATGTATATATATATGTGTATATATATATATGTATATATATATGTGT ATATATATATATGTATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18442926	GTATATAT others(87): Show GTATATATATATATATGTGTATATATATATATGTATATATATATGTGTAT ATATATATATGTATATATATATGTGTATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp1 HG03041.hp1 others(2): Show HG02572.hp2 HG02970.hp1 HG03041.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0002t0002g0140 others(2): Show a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0185	5	200	0.0250	-94	c.333 others(113): Show c.333+40899_333+40992delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGTATATATATATATGTAT ATATATATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442920	ATATATGT others(87): Show ATATATGTATATATATATATATGTGTATATATATATATGTATATATATAT GTGTATATATATATATGTATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp2 HG02040.hp1 others(11): Show HG00423.hp2 HG02027.hp2 HG02040.hp1 HG02135.hp1 NA18952.hp1 NA18960.hp1 NA18968.hp1 NA18972.hp1 NA18977.hp2 NA18984.hp1 NA18985.hp2 NA19082.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 a0001c0001t0001 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0020g0004 a0001c0001t0020g0102 a0001c0002t0002g0081	14	302	0.0464	-94	c.171 others(113): Show c.171+40883_171+40976delGTATATATATATATATGTGTATATAT ATATATGTATATATATATGTGTATATATATATATGTATATATATATGTGT ATATATATATATGTATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442926	GTATATAT others(87): Show GTATATATATATATATGTGTATATATATATATGTATATATATATGTGTAT ATATATATATGTATATATATATGTGTATATATATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG03041.hp2 others(2): Show HG02572.hp2 HG02970.hp2 HG03041.hp2 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0007g0153 a0001c0001t0007g0161 a0001c0002t0002g0246 others(2): Show a0001c0001t0007g0153 a0001c0001t0007g0161 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248	5	302	0.0166	-94	c.171 others(113): Show c.171+40899_171+40992delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGTATATATATATATGTAT ATATATATATATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24317623	AAAGACAG others(87): Show AAAGACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	366	0.0027	-94	c.212 others(113): Show c.212-29108_212-29015delGACAGACAGAAAGAAAGAAAAGAAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN5_chr11_77061971_77131155	77094336	GGGCTCTG others(87): Show GGGCTCTGGTCCTGCAACCCAACCTCCTATCCCAGCACAGTTCCAAGCTG CTGGTGTTCTGGACCAGGGCCAAAGGGTTTGGGTTGGAAAGAATA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18990.hp2 NA18940.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0128 a0001c0001t0008g0156 a0001c0001t0008g0128 a0001c0001t0008g0156	2	382	0.0052	-94	c.297 others(109): Show c.297+561_297+654delAGTTCCAAGCTGCTGGTGTTCTGGACCAGG GCCAAAGGGTTTGGGTTGGAAAGAATAGGCTCTGGTCCTGCAACCCAACC TCCTATCCCAGCAC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBFA2T3_chr16_88869858_88982207	88894453	CGCACACA others(87): Show CGCACACATGCATACATATACACATGCACACAATGTACACACATGCACAC ACACATGCACACACACATGCATACATATACACATGCACACAATGT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0284 a0001c0002t0035g0284	1	284	0.0035	-94	c.380 others(111): Show c.380-2062_380-1969delACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88902881	GCTCCTGC others(87): Show GCTCCTGCTGACACCTGTGGGTCTCACCCACGACTGCCCCGCACCCTCCT CCTGTTAACACCTGTGGGTCTCACCCACGACTGCCCTGCACCCTC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	284	0.0035	-94	c.152 others(111): Show c.152-1319_152-1226delGAGGGTGCAGGGCAGTCGTGGGTGAGAC CCACAGGTGTTAACAGGAGGAGGGTGCGGGGCAGTCGTGGGTGAGACCCA CAGGTGTCAGCAGGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDH7_chr18_65746012_65895337	65782022	CTTTCTCC others(87): Show CTTTCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp1 HG01515.hp2 others(2): Show HG00140.hp2 HG01099.hp1 HG01515.hp2 HG01952.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005	a0001c0001t0002 a0002c0002t0003 a0002c0003t0014 others(1): Show a0001c0001t0002 a0002c0002t0003 a0002c0003t0014 a0002c0005t0041	a0001c0001t0002g0049 a0001c0001t0002g0073 a0002c0002t0003g0035 others(2): Show a0001c0001t0002g0049 a0001c0001t0002g0073 a0002c0002t0003g0035 a0002c0003t0014g0031 a0002c0005t0041g0080	5	208	0.0240	-94	c.210 others(113): Show c.210+18972_210+19065delTTCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDYL_chr6_4771404_4960544	4895407	GTATACGT others(87): Show GTATACGTATATATGCATGTATACATGTATACGTATATATGCATATATAC ATGTATACATATATACGTATATATGTATATATACATGTATACATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0141 a0001c0009t0002g0141	1	250	0.0040	-94	c.691 others(111): Show c.691+3043_691+3136delCATGTATACATGTATACGTATATATGCA TATATACATGTATACATATATACGTATATATGTATATATACATGTATACA TATATACGTATATATG	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CELF1_chr11_47460937_47558132	47541700	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAA GAAAGAACGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG04228.hp1 NA18979.hp2 others(2): Show HG02559.hp1 HG04228.hp1 NA18979.hp2 NA19062.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0230 others(2): Show a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0230 a0001c0001t0002g0261 a0001c0001t0003g0059	5	340	0.0147	-94	c.-15 others(115): Show c.-154+11198_-154+11291delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCT TTCTTTCTTTCTTTCTTTCT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(87): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp1 NA18983.hp1 others(1): Show HG03209.hp2 HG03579.hp1 NA18983.hp1 NA19063.hp2	a0002 a0012 a0039 others(1): Show a0002 a0012 a0039 a0051	a0002c0003 a0012c0021 a0039c0039 others(1): Show a0002c0003 a0012c0021 a0039c0039 a0051c0083	a0002c0003t0001 a0012c0021t0001 a0039c0039t0001 others(1): Show a0002c0003t0001 a0012c0021t0001 a0039c0039t0001 a0051c0083t0001	a0002c0003t0001g0159 a0012c0021t0001g0205 a0039c0039t0001g0040 others(1): Show a0002c0003t0001g0159 a0012c0021t0001g0205 a0039c0039t0001g0040 a0051c0083t0001g0130	4	268	0.0149	-94	c.556 others(111): Show c.5563+765_5563+858delCTATATATATATATATATCTATATATAT CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHD8_chr14_21380199_21461123	21427352	GTAGCAAG others(87): Show GTAGCAAGGAGCACTCACTTGAGCTTACTCTTGCACGTCCCATCACAATA GCAAGGAGCACTCACTTGAGCTTGCTCTTGCACGTCCCATCACAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(168): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0008 a0001c0013 others(6): Show a0001c0001 a0001c0008 a0001c0013 a0002c0002 a0002c0007 a0002c0010 a0003c0004 a0004c0011 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0008t0001 a0001c0013t0002 a0002c0002t0001 a0002c0002t0004 a0002c0007t0001 a0002c0010t0001 a0003c0004t0001 a0004c0011t0001 a0006c0012t0002	a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0079 others(168): Show a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0006g0043 a0001c0008t0001g0087 a0001c0008t0001g0088 a0001c0013t0002g0026 a0002c0002t0001g0057 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0136 a0002c0002t0001g0148 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0004g0257 a0002c0007t0001g0231 a0002c0007t0001g0232 a0002c0010t0001g0093 a0003c0004t0001g0133 a0003c0004t0001g0151 a0003c0004t0001g0156 a0003c0004t0001g0170 a0004c0011t0001g0095 a0006c0012t0002g0021	171	260	0.6577	-94	c.160 others(111): Show c.1601+423_1601+516delTTGTGATGGGACGTGCAAGAGCAAGCTC AAGTGAGTGCTCCTTGCTATTGTGATGGGACGTGCAAGAGTAAGCTCAAG TGAGTGCTCCTTGCTA	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	4/37			chr14	TogoVar
CHFR_chr12_132827356_132892605	132847917	CATGCAGA others(87): Show CATGCAGAGAACCAGCTGGCTGCACCAGTGAGGAAACATGGCTCCCGGCT CCCCAACCCGCAGCGGGTCAGGTAAAACAGATAAACACCAATAGA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0177 a0001c0005t0038g0177	1	378	0.0027	-94	c.164 others(110): Show c.1647+74_1647+167delTCTATTGGTGTTTATCTGTTTTACCTGAC CCGCTGCGGGTTGGGGAGCCGGGAGCCATGTTTCCTCACTGGTGCAGCCA GCTGGTTCTCTGCAT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	14/17			chr12	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375888	TGTGGGTG others(87): Show TGTGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTGTGTTGAGTCGTG TGGGTGGTATGTGAGTGGTTGTGTGAGTGGTGTGTGTGTTGAGTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0023 a0002c0017t0023	a0002c0017t0023g0020 a0002c0017t0023g0020	1	133	0.0075	-94	c.160 others(111): Show c.160+1048_160+1141delGACTCAACACACACACCACTCACACAAC CACTCACATACCACCCACACGACTCAACACACACACCACTCACACAACCA CTCACATACCACCCAC	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9			chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140419741	GTATATAT others(87): Show GTATATATACACATATACGTGTATACACGTGTATACACGTATATACACGT ATACGTGTATATACGTGTATATACGTATATATACGTATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA20300.hp1 HG03130.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0005 a0001c0009 a0002c0005	a0001c0009t0010 a0002c0005t0004 a0001c0009t0010 a0002c0005t0004	a0001c0009t0010g0110 a0002c0005t0004g0092 a0001c0009t0010g0110 a0002c0005t0004g0092	2	110	0.0182	-94	c.638 others(111): Show c.638-1376_638-1283delACACATATACGTGTATACACGTGTATAC ACGTATATACACGTATACGTGTATATACGTGTATATACGTATATATACGT ATATGTGTATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140490008	GTACATGT others(87): Show GTACATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG03225.hp1 HG02615.hp1 HG02622.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0043 a0002c0002t0011 a0001c0001t0005 a0001c0001t0043 a0002c0002t0011	a0001c0001t0005g0035 a0001c0001t0043g0064 a0002c0002t0011g0039 a0001c0001t0005g0035 a0001c0001t0043g0064 a0002c0002t0011g0039	3	110	0.0273	-94	c.134 others(115): Show c.1344+23280_1344+23373delCATGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMKLR2_chr2_206170316_206218371	206172917	CGGGAGAG others(87): Show CGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	322	0.0031	-94	c.31 others(105): Show c.3169_*3262delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2398		chr2	TogoVar
CNOT6_chr5_180489379_180583358	180531107	GGGCAGAG others(87): Show GGGCAGAGGGGCTCCTCACTTCCCAGACCGGGCGGCTGGGCGGAGGCGCC CCCCACCTCCCTCCCAGCTGGGGCGGCTGGCCGGGGCGGCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00733.hp2 others(47): Show HG00408.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02148.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18950.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18978.hp1 NA18990.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19054.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 others(8): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055	a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 others(47): Show a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0144 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0156 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0007g0125 a0001c0001t0007g0129 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0007g0155 a0001c0001t0007g0325 a0001c0001t0015g0012 a0001c0001t0015g0115 a0001c0001t0015g0119 a0001c0001t0015g0126 a0001c0001t0015g0127 a0001c0001t0016g0013 a0001c0001t0016g0116 a0001c0001t0016g0120 a0001c0001t0016g0121 a0001c0001t0016g0331 a0001c0001t0024g0118 a0001c0001t0024g0151 a0001c0001t0024g0157 a0001c0001t0030g0131 a0001c0001t0030g0152 a0001c0001t0031g0132 a0001c0001t0031g0133 a0001c0001t0032g0128 a0001c0001t0032g0154 a0001c0001t0053g0117 a0001c0001t0054g0145 a0001c0001t0055g0153	50	334	0.1497	-94	c.112 others(111): Show c.112+1747_112+1840delCGGGCGGCTGGGCGGAGGCGCCCCCCAC CTCCCTCCCAGCTGGGGCGGCTGGCCGGGGCGGCTGCCAGGCAGAGGGGC TCCTCACTTCCCAGAC	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN1_chr12_40687439_41077415	41056925	AGATATTT others(87): Show AGATATTTATAAATATTTATAATATTTAGATATTTATAAATATTATAAAT ATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01515.hp1 HG02145.hp2 others(4): Show HG00741.hp1 HG01515.hp1 HG02145.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0004t0007 a0001c0005t0002 others(1): Show a0001c0001t0002 a0001c0004t0007 a0001c0005t0002 a0001c0005t0007	a0001c0001t0002g0069 a0001c0001t0002g0096 a0001c0004t0007g0213 others(4): Show a0001c0001t0002g0069 a0001c0001t0002g0096 a0001c0004t0007g0213 a0001c0004t0007g0214 a0001c0005t0002g0062 a0001c0005t0002g0210 a0001c0005t0007g0148	7	230	0.0304	-94	c.298 others(115): Show c.2981-13017_2981-12924delTATAATATTTAGATATTTATAAAT ATTATAAATATTTAGATATTTATAAATATTATAAATATTTAGATATTTAT AAATGATATTTATAAATATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056944	TAATATTT others(87): Show TAATATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAAATA TTATAAATATTTAGATATTTATAAATGATATTTATAAATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0211 a0001c0001t0013g0211	1	230	0.0044	-94	c.298 others(115): Show c.2981-12939_2981-12846delGATATTTATAAATATTATAAATAT TTAGATATTTATAAATATTATAAATATTTAGATATTTATAAATATTATAA ATATTTAGATATTTATAAAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)