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
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(509): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGAGGAGGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGG AGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGGGAGGGGGAG GAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGA GGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGA GGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02572.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0029 a0001c0001t0020 a0001c0001t0029	a0001c0001t0020g0286 a0001c0001t0029g0151 a0001c0001t0020g0286 a0001c0001t0029g0151	2	301	0.0066	516	c.125 others(537): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCC TCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCT CCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCT CCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCT CCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(509): Show GAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCA GGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGC AGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAG CAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGC AGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAG CAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGG AGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGCAGGAGCAGGAGCAG GAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGAAGCAGCAGAAGCA GCAGAAGCAGAAGCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02897.hp2 HG03540.hp1 HG02257.hp1 HG02897.hp2 HG03540.hp1	a0002 a0004 a0002 a0004	a0002c0052 a0002c0056 a0004c0032 a0002c0052 a0002c0056 a0004c0032	a0002c0052t0001 a0002c0056t0001 a0004c0032t0003 a0002c0052t0001 a0002c0056t0001 a0004c0032t0003	a0002c0052t0001g0017 a0002c0056t0001g0040 a0004c0032t0003g0052 a0002c0052t0001g0017 a0002c0056t0001g0040 a0004c0032t0003g0052	3	80	0.0375	516	c.667 others(535): Show c.667+88884_667+88885insGTTGCTTCTGCTTCTGCTGCTTCTGC TGCTTCTGCTTCTGCTTCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTG CTCCTGCTCCTCCTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCC TCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCT CCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(509): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0136 a0001c0008t0004g0136	1	363	0.0028	516	c.-48 others(533): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCTCGCACCCCACCT GTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCAC ACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(509): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	300	0.0033	516	c.655 others(535): Show c.655-22337_655-22336insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758645	A A	ACTCATTC others(509): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0188 a0017c0020t0001g0188	1	300	0.0033	516	c.654 others(535): Show c.654+22373_654+22374insGGTGGAGCAGGTGATCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(509): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	300	0.0033	516	c.654 others(535): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGG TCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(509): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT ATATATATACTATATATATACTATATATATAGTTTATATATATATACTAT ATATATAGTTTATATATATACTATATATATAGTTTATATATATATACTAT ATATATAGTATATATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTA TATATATATAAACTATATATATAGTTTATATATATATATATACTATATAT ATAGTATATATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATATA CTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	304	0.0033	516	c.331 others(535): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATACTATATATATAGT ATATATATATATATAAACTATATATATAGTTTATATATATATAAACTATA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAA ACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATAGTATATATATACTATATAT AGTATATATATATAAACTATATATATAGTATATATAAACTATATATATAG TATATATATATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(509): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCTGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	391	0.0026	516	c.36 others(527): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCTGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCTGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(509): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCGACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCC ACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCT TCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCA CCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0031 a0003c0004t0048 a0001c0001t0031 a0003c0004t0048	a0001c0001t0031g0314 a0003c0004t0048g0047 a0001c0001t0031g0314 a0003c0004t0048g0047	2	394	0.0051	516	c.170 others(535): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCGACCTT CCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACC TTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511802	T T	TCTTCCAC others(509): Show TCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCACCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACC TTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGCCTTCCACCTTCC ACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCT TCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCA CCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCCAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00738.hp2 others(54): Show HG00597.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 NA18941.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013 a0015	a0001c0001 a0001c0002 a0001c0010 others(9): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0002c0003 a0003c0004 a0004c0005 a0005c0017 a0006c0045 a0010c0011 a0013c0021 a0015c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0045 a0001c0001t0057 a0001c0001t0069 a0001c0002t0026 a0001c0002t0089 a0001c0010t0002 a0001c0039t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0071 a0003c0004t0008 a0004c0005t0003 a0004c0005t0004 a0004c0005t0051 a0005c0017t0002 a0006c0045t0003 a0010c0011t0005 a0010c0011t0018 a0013c0021t0001 a0013c0021t0002 a0015c0031t0004	a0001c0001t0001g0014 a0001c0001t0001g0242 a0001c0001t0001g0257 others(54): Show a0001c0001t0001g0014 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0368 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0393 a0001c0001t0002g0029 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0236 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0083 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0008g0011 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0011g0218 a0001c0001t0012g0353 a0001c0001t0014g0255 a0001c0001t0015g0224 a0001c0001t0023g0168 a0001c0001t0023g0253 a0001c0001t0024g0055 a0001c0001t0025g0023 a0001c0001t0026g0273 a0001c0001t0045g0359 a0001c0001t0057g0252 a0001c0001t0069g0339 a0001c0002t0026g0111 a0001c0002t0089g0032 a0001c0010t0002g0098 a0001c0010t0002g0256 a0001c0039t0002g0319 a0002c0003t0001g0335 a0002c0003t0002g0103 a0002c0003t0004g0250 a0002c0003t0071g0296 a0003c0004t0008g0310 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0051g0123 a0005c0017t0002g0259 a0006c0045t0003g0392 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0013c0021t0001g0031 a0013c0021t0002g0254 a0015c0031t0004g0066	57	394	0.1447	516	c.170 others(535): Show c.170-23353_170-23352insCACCTTCCACCTTCTTCCACCTTCCA CCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCC ACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTT CCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCA CCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCGC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACC TTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(509): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0270 a0002c0010t0005g0270	1	338	0.0030	516	c.300 others(533): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888547	G G	GGGGTGGG others(509): Show GGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGG AGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGGT GGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGCTGG GGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGGGT AGGGTGGGGGAAGGGTGCGGGTGGGGCTGGGGAGGGGTGGGGTGGGGTGG GAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGAG GAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGGGGG AGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGG GGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGG GAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGG TGGGGTGGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0284 a0001c0002t0035g0284	1	284	0.0035	516	c.712 others(533): Show c.712-2406_712-2405insACCCCTCCCCCACCCCACCCACACCCTT CCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCCACCC CTCCCCCACCCACACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCT CCTCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCACCC CACCCCTCCCCAGCCCCACCCGCACCCTTCCCCCACCCTACCCACCCCTC CCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCACC CCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCT CCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCC AGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(509): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTTCTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCCCACTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACT ACTCACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAA CCCTCCCACTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATT CCCCCGCTACTACCTACCTTCCAACCCTCCCACTATTTCCTCCCACCACT CACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01978.hp2 HG02109.hp2 others(21): Show HG01175.hp1 HG01978.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03654.hp1 HG03704.hp1 HG04199.hp2 HG04204.hp2 NA18950.hp1 NA18998.hp2 NA19012.hp1 NA19043.hp1 NA19058.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0037 a0001c0001t0041 a0001c0001t0055 a0001c0001t0056 a0001c0001t0063 a0001c0001t0069 a0001c0008t0010 a0002c0002t0018 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0101 a0001c0001t0001g0189 others(21): Show a0001c0001t0001g0017 a0001c0001t0001g0101 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0004g0175 a0001c0001t0005g0102 a0001c0001t0007g0070 a0001c0001t0007g0221 a0001c0001t0008g0066 a0001c0001t0008g0092 a0001c0001t0009g0127 a0001c0001t0010g0004 a0001c0001t0010g0170 a0001c0001t0018g0167 a0001c0001t0037g0073 a0001c0001t0041g0005 a0001c0001t0055g0188 a0001c0001t0056g0055 a0001c0001t0063g0120 a0001c0001t0069g0083 a0001c0008t0010g0009 a0002c0002t0018g0001 a0003c0004t0001g0015 a0005c0006t0001g0114	24	242	0.0992	516	c.266 others(533): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGGA GGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGTGGGAGGGTTGGAAGGT GAGTAGTAGGGGGAGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTCGGG GGGAAATAGTGGGAGGGTTGGAAGGTGAGAAGTAGGGGGGAAATAGTGGG AAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAG GTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGA AATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(509): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	256	0.0039	516	c.-45 others(537): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(509): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	256	0.0039	516	c.-45 others(537): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(509): Show TACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAG AGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp2 HG02293.hp2 others(1): Show HG01934.hp2 HG01993.hp2 HG02293.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0031 a0001c0003t0001g0164 a0001c0003t0001g0199 others(1): Show a0001c0003t0001g0031 a0001c0003t0001g0164 a0001c0003t0001g0199 a0002c0002t0001g0150	4	236	0.0170	516	c.351 others(535): Show c.3514-2380_3514-2379insCTGTGAGGGGAGGTGGTCACACTGAG GAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGG GGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(509): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	236	0.0042	516	c.351 others(535): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(509): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTATGGGAGTGTATGGGGTGTGTGTAT GACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGT ATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTAT GGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTG TGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTG TGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAG TGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAG TGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTG TGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01106.hp2 others(5): Show HG00280.hp2 HG01106.hp1 HG01106.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp1 NA18974.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0024 a0002c0031 a0004c0009 others(1): Show a0001c0024 a0002c0031 a0004c0009 a0005c0005	a0001c0024t0001 a0001c0024t0006 a0002c0031t0006 others(2): Show a0001c0024t0001 a0001c0024t0006 a0002c0031t0006 a0004c0009t0002 a0005c0005t0001	a0001c0024t0001g0097 a0001c0024t0006g0096 a0002c0031t0006g0283 others(4): Show a0001c0024t0001g0097 a0001c0024t0006g0096 a0002c0031t0006g0283 a0004c0009t0002g0289 a0005c0005t0001g0021 a0005c0005t0001g0201 a0005c0005t0001g0205	8	336	0.0238	516	c.341 others(533): Show c.3418+378_3418+379insTCACACTCCCATACACACACACTCACTC CCATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCAT ACACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCAT ACACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATAC TCACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATAC ACAACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCA TACACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCC CATACACACACTCCCATACACACACACCCATACACAGTCATACACACACC CCATACACTCCCATACACACACTCTCCCATACACACACCCATACTCACAC TCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATAC ACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036113	T T	TATATGTG others(509): Show TATATGTGTGTGTATGGGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTG AGTGTGAGTGGGAGTGTGCGTATGGGTGTGTGTATGGGAGTGTGAGTATG GGTGTGTGTATGGGAGAGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGT ATGACTGTGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGA GTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGT ATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAG TGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTG TGTGTATGGGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTG AGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTG AGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTG TGTGTATGGGAGTGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0043 a0003c0020t0001g0150 a0003c0020t0001g0043 a0003c0020t0001g0150	2	336	0.0060	516	c.341 others(533): Show c.3418+378_3418+379insTCACACTCCCATACACACACTCACTCCC ATACACACACACCCATACTCACACTCCCATACACACACTCACTCCCATAC ACACACACACCCATACTCACACTCCCATACACACACACTCACTCCCATAC ACACACACCCATACTCACACTCCCATACTCCCATACACACACCCATACTC ACACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACAC AACCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATA CACACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCA TACACACACTCCCATACACACACACCCATACACAGTCATACACACACCCC ATACACTCCCATACACACACACTCTCCCATACACACACCCATACTCACAC TCCCATACACACACCCATACGCACACTCCCACTCACACTCACTCCCATAC ACTCCCATAGACACACACACTCCCATACACACACATAT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAGGAAGG others(509): Show CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGG GGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAAGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGAGGGCAGGCAGGAAGGGAG GGGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0231 a0002c0015t0001g0231	1	344	0.0029	516	c.85- others(533): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCTG CCTGCCCTCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCTTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSMD1_chr8_2930361_4999914	3558334	G G	GTAGTACC others(509): Show GTAGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATGGTAC CCCGTGTCCACCCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGT CCACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCC TCCAATGATGAACGGTGTCTCAATGGTACCCCGTGTCCACTCCTCCAATG ATGAATGGTGCCTCAATGGTACCCCGTGTCCACCCCTCCAATGATGAACG GTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATAGTGTCTC AATAGTACCCCATGTCCACTCCTCCAATGATGAACGGTGCCTCAATGGTA CCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATGGTACCCCGTG TCCACTCCTGCAATGATGAATGGTGCCTCAATAGTACCCCGTGTCCACTC CTCCAATGATGAATGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAAT GATGAATGGTGCCTCAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0027 a0001c0090t0001g0027	1	126	0.0079	516	c.134 others(537): Show c.1344+16610_1344+16611insTTGAGGCACCATTCATCATTGCAG GAGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGAGGAGTGGA CACGGGGTACTATTGAGGCACCATTCATCATTGCAGGAGTGGACACGGGG TACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATT GAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGACAC TATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCGTTCAT CATTGGAGGGGTGGACACGGGGTACCATTGAGGCACCATTCATCATTGGA GGAGTGGACACGGGGTACCATTGAGACACCGTTCATCATTGGAGGAGTGG ACATGGGGTACTATTGAGACACTATTCATCATTGCAGGAGTGGACACGGG GTACCATTGAGGCACCGTTCATCATTGGAGGGGTGGACACGGGGTACCAT TGAGGCACCATTCATCATTGGAGGAGTGGACACGGGGTACTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(509): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGGGGAGGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	126	0.0079	516	c.416 others(537): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCCCCTCCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCT CTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DLEC1_chr3_38034208_38129025	38084485	A A	AGTAGTGG others(509): Show AGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAG TGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTG GTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGT GGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAG TAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGT GGTGGCAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGG TGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTA GTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGT GGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGG TAGTAGTAGTAGTGGTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0278 a0001c0041t0001g0278	1	298	0.0034	516	c.126 others(533): Show c.1261+242_1261+243insAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGT GGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTA GTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGG TAATAGTAGTAGTGGTGGTGGTGGCAGTAGTAGTGGTAGTAGTAGTAGTG GTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGT AGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAG TAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(509): Show CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	250	0.0040	516	c.-10 others(535): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGTAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99928032	G G	GTGGTGGT others(509): Show GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	288	0.0035	516	c.190 others(535): Show c.1909+7166_1909+7167insGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GET4_chr7_871554_901436	889903	T T	TCTGGGAG others(509): Show TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGT GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGTC TGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAG GGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTCAGGACGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp1 HG02896.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0011 a0001c0006t0002 a0001c0005t0011 a0001c0006t0002	a0001c0005t0011g0277 a0001c0006t0002g0276 a0001c0005t0011g0277 a0001c0006t0002g0276	2	384	0.0052	516	c.467 others(533): Show c.467-1007_467-1006insCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGG TGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTCAGGACGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGCCTGGGAGTGGAGGGAGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GRAMD4_chr22_46615386_46684785	46643147	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	328	0.0031	516	c.283 others(533): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	328	0.0031	516	c.283 others(533): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	328	0.0031	516	c.283 others(533): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	328	0.0031	516	c.283 others(533): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	328	0.0031	516	c.283 others(533): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCT ACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG02451.hp2 others(6): Show HG00642.hp2 HG01070.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 others(6): Show a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0013g0020 a0001c0001t0013g0055	9	328	0.0274	516	c.283 others(533): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0046 a0001c0001t0032g0046	1	328	0.0031	516	c.283 others(533): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCGTCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCAT CCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCC ATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTAT CCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCC GTGGATCCATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	328	0.0031	516	c.283 others(533): Show c.283+5230_283+5231insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCC ATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGAT CCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCC ATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATGCATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(509): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCC ATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCAT CCATCCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	328	0.0031	516	c.283 others(533): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTAC CCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCATGCATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GYG2_chrX_2823930_2887818	2887108	C C	CGCAGCCA others(509): Show CGCAGCCAGTAGTTTTTTTTTTTATTTTTTTTTTTTTTATTTTTTTTTAT TTTTTTTCTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTTCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAATATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0037 a0009c0013t0005g0037	1	316	0.0032	516	c.58 others(527): Show c.5895_*5896insGCAGCCAGTAGTTTTTTTTTTTATTTTTTTTTTT TTTATTTTTTTTTATTTTTTTTCTTTTTATTATACTCTAAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCT GGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAA TGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGAT ATTTCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGA GTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAATATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding		4291		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544798	T T	TCACCACC others(509): Show TCACCACCACCACTACCACCTCTACCACCACCATCATCACCACCACTACC ACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCAC CATCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCACCA CCACTACCACCTCTACCACCACCACCACCACCACCACTACCACCTCTACC ACCTCTACCACCACCACCACCATCACCTCTACCACCACCATCACCACCAC CATCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCACCT CTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATC ACCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCACCTG TACCACCACTGCTACCATCACCACCACTACCACCACCATCACCACCACTA CCACTACCTCTACCTCCACTGCTACCATCACCACCACCACCACCACCTCT ACCACCACCATCACCAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0032 a0032	a0032c0037 a0032c0037	a0032c0037t0071 a0032c0037t0071	a0032c0037t0071g0117 a0032c0037t0071g0117	1	134	0.0075	516	c.520 others(537): Show c.5208-19889_5208-19888insGTGGTGATGGTGGTGGTAGAGGTG GTGGTGGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGT GGTGATGGTGGTGGTAGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGG TAGTGGTGGTGGTGGTGATGGTAGCAGTGGTGGTAGAGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGATGGTGGTGG TGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAG GTGGTAGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGT GGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTG GTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(509): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACC ACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCAC CTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCA CTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCC TCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCC CAGCACTACCACCATCACCTCCTCCACCACTACCACCATCTCCTCCACCA CCACCACCACCACCACA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18984.hp2 NA18982.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0034 a0001c0001t0003g0035	2	274	0.0073	516	c.804 others(533): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGG AGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTG GAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGT GGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
KANK1_chr9_499695_751103	514127	T T	TCTCCCTC others(509): Show TCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCC TTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0085 a0007c0014t0002g0085	1	254	0.0039	516	c.-84 others(533): Show c.-84+9391_-84+9392insCTCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTTCCTCTCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(509): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGCATGTGTATTCAT GTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTATGT GTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGTGT GCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTTGTGTTGCA TGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTA CGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTA TGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATG TGTGTGCATATGTGTATGCATGTGTGTATGTGTGCATGTGTATATATGTG TCTATGTACTTGTGTGTATGTGTATGCATGTGTGTGTACATGTATGTATA CGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTATGTGTGTAGG AGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0032 a0001c0001t0019g0032	1	198	0.0051	516	c.946 others(533): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACACATGCATACACATACACACAAGTACATAGACACATATATAC ACATGCACACATACACACATGCATACACATATGCACACACATACACACAT GCATACACATATGCACACACATACACACATGCATACACATACACACATGC ATACACGTGCACATGTAAATACACACGCACAAATACACGTACACACAGGT ATACACATGCACATGTAAATACACACACATATACACACATGCAACACAAA TACACATACACACAGGTATACACACATGCCCATACATGCACACACATGCA TACACATGCACACACAAATACATATACGTGTATACACACACATACATGCA CGCACGTGCATACACATGCACACACAAATATACACACACATGAATACACA TGCACACATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(509): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCC ACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACA CCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCC CACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACAC ACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGC TCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0271 a0001c0003t0003g0271	1	308	0.0033	516	c.66 others(527): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCA CACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACAC CCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTC ACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACA CCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCTCACACCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(509): Show TATTTTATATATATTTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTATATATTATATATTTTTATATTTTTATATATTTATATATATA TTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATTATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTAT ATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTAT ATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTATAC ATATATATTTATATGTATTTATATATAGTATATATATTTTTTATGTATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	260	0.0039	516	c.125 others(533): Show c.125+9485_125+9486insATTTTATATATATTTTATATATATATAA ATTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATAT TTTTATATTTTATATATATTTATATATTTATATATTATATATTTTTATAT TTTTATATATTTATATATATATTTATATATATTTATGTATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATTATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATTTATATGTATTTATATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATAGT ATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(509): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04204.hp2 HG00140.hp2 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0001 a0001c0001t0001 a0003c0014t0001	a0001c0001t0001g0194 a0003c0014t0001g0016 a0001c0001t0001g0194 a0003c0014t0001g0016	2	294	0.0068	516	c.153 others(535): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(509): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	294	0.0034	516	c.153 others(535): Show c.1530-3001_1530-3000insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857762	T T	TCGGGACG others(509): Show TCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACG GGTGTGCAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	294	0.0034	516	c.153 others(535): Show c.1530-3057_1530-3056insTGACACCACTGCACACCCGTCCCGTG ACACCACGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858482	T T	TCGGGATG others(509): Show TCGGGATGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTG ACTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGCGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0152 a0001c0018t0001g0152	1	294	0.0034	516	c.153 others(535): Show c.1530-3777_1530-3776insTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTGCACACGCGTCCCGTGACAC CACTGCACACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCA CTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGT CCCGTGACACCAGTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACGCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858496	C C	CGTGGTGT others(509): Show CGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCA GTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0090 a0001c0008t0001g0090	1	294	0.0034	516	c.153 others(535): Show c.1530-3791_1530-3790insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGC GTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACA CCAGTCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858496	C C	CGTGGTGT others(509): Show CGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCA GTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0023 a0001c0008t0001g0023	1	294	0.0034	516	c.153 others(535): Show c.1530-3791_1530-3790insTCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACAC GCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGC GTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGT CCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACA CCAGTCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTGAGACA others(509): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG01081.hp2 others(32): Show HG00438.hp1 HG00621.hp2 HG01081.hp2 HG01258.hp2 HG01884.hp1 HG01981.hp2 HG02132.hp2 HG02155.hp2 HG02280.hp1 HG02523.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG06807.hp1 NA18941.hp1 NA18952.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp2 NA18984.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19058.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0013 a0014 a0019 a0027 a0030	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0013c0013 a0014c0012 a0019c0020 a0027c0026 a0030c0028	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0022 a0004c0004t0001 a0004c0004t0002 a0006c0006t0003 a0006c0006t0014 a0013c0013t0002 a0014c0012t0001 a0019c0020t0005 a0027c0026t0003 a0030c0028t0018	a0001c0001t0001g0006 a0001c0001t0001g0095 a0001c0001t0002g0146 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0095 a0001c0001t0002g0146 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0020 a0002c0002t0001g0040 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0082 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0002g0034 a0002c0002t0002g0091 a0003c0003t0003g0102 a0003c0003t0003g0145 a0003c0003t0003g0147 a0003c0003t0008g0046 a0003c0003t0022g0157 a0004c0004t0001g0060 a0004c0004t0001g0072 a0004c0004t0002g0013 a0004c0004t0002g0112 a0006c0006t0003g0005 a0006c0006t0003g0043 a0006c0006t0003g0064 a0006c0006t0014g0156 a0013c0013t0002g0121 a0014c0012t0001g0164 a0019c0020t0005g0170 a0027c0026t0003g0110 a0030c0028t0018g0014	35	176	0.1989	516	c.753 others(533): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTGAGACA others(509): Show TTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGA TCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGT AATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGG TCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTG CTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTC TAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAA ATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAA GATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCA CAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTT GTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03453.hp2 NA18522.hp2 HG01257.hp2 HG03453.hp2 NA18522.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0004c0004 a0016c0015 a0001c0001 a0004c0004 a0016c0015	a0001c0001t0012 a0004c0004t0005 a0016c0015t0004 a0001c0001t0012 a0004c0004t0005 a0016c0015t0004	a0001c0001t0012g0068 a0004c0004t0005g0168 a0016c0015t0004g0151 a0001c0001t0012g0068 a0004c0004t0005g0168 a0016c0015t0004g0151	3	176	0.0171	516	c.753 others(533): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar

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Search Results (Total: 10000 hits)