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
C1QTNF12_chr1_1237453_1251722	1249495	T T	TGGACCGA others(598): Show TGGACCGAGGGAGGCTGGGCCTCCCCACTCCGCCCTACAGGCCGGGACAA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCCTACAGGCCGGGACA ACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCG CCCTACAGGCCGGGACACGGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAACGGGCAGCCCTGGGA GGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGAC ACGGGCAGCCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACACGGGCAGCCCTGGG AGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	328	0.0031	605	c.-28 others(616): Show c.-2806_-2805insCAGCCTCCCAGGGCTGCCCGTGTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGGCGGAGTGGGA GGCCCAGCCTCCCTCGGTCCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGC TGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGG TCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGCGGAGTGGGG AGGCCCAGCCTCCCTCGGTCC	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2774		chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88951075	C C	CTCGCCTG others(598): Show CTCGCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCT TCCGGGTCAGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAG GAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGC ACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCAC CCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGT CTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTC AGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCGCCTGGACCGG CACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGGTCAGTTCA CCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGGAGTGTTGGCACCT GTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGG TCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACC GGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTT CACCCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19005.hp2 NA19088.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200	3	284	0.0106	605	c.151 others(624): Show c.151+25581_151+25582insCGGGTGAACAGATCCGGAAGACAGGT GCCAACACTCTGACCCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAAC AGATCCGGAAGACAGGTGCCAACACTCTGACCCTCTGTGGCGGTGCCGGT CCAGGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTCCTGACC CTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAACTGACCCGGAAGACAG GTGCCAACACTCTGACCCTCTGTGCCGGTGCCGGTCCAGGCGAGGGGTGA ACAGATCCGGAAGACAGGTGCCAACACTCTGACCCTCTGTGGCGGTGCCG GTCCAGGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTCTGAC CCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAACAGATCCGGAAGACA GGTGCCAACACTCTGACCCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTG AACAGATCCGGAAGACAGGTGCCAACACTCCTGACCCTCTGTGGCGGTGC CGGTCCAGGGGACGGGTGAACTGACCCGGAAGACAGGTGCCAACACTCTG ACCCTCTGTGGCGGTGCCGGTCCAGGCGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGGCC others(598): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18963.hp1 HG02027.hp2 NA18963.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0101 a0003c0003t0002g0107 a0003c0003t0002g0101 a0003c0003t0002g0107	2	398	0.0050	605	c.666 others(620): Show c.666+500_666+501insGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882071	G G	GGGGGGAG others(598): Show GGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18994.hp1 NA18984.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0119 a0001c0001t0002g0125	2	288	0.0069	605	c.303 others(624): Show c.303+24050_303+24051insGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(598): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCTCCCTTCCCCCCTTCCACCCTTCCCCCTTACCCCCTTCC TCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	354	0.0028	605	c.69 others(616): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCC CCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCCTTCCACCCTTCC CCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTT CCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(598): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	402	0.0025	605	c.80- others(620): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(598): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATAAAA TTATATATATTTATATATAAACATATATAATTTTATATATAAATATATAT AATTTTATATATAAATATATATATAATTTTATATATTTATATATAAATAT AATTTTATGTATAAATATATATAATTATATATATTTATATATAATTTTAT ATATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATAT ATAAATATATATAATTTTATATATATAATTATATATAAATATATATAATT ATATATATTTATATATAAATTATATATAATTTTATATATAATATATATAA TTTTATATATTATATATAAATATATATATAATTTATATATAAATATATAA AATTATATATAAATATATATAATTTATATATAAATATGTATAATTTTATA TATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTT ATATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATAT AAATATATACAAATATATATATAAATTTATATAAATATATATAAATATAT ACAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0026 a0001c0006t0002g0026	1	116	0.0086	605	c.56- others(622): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATAAAATTATATATATTTATATATAAACATATATA ATTTTATATATAAATATATATAATTTTATATATAAATATATATATAATTT TATATATTTATATATAAATATAATTTTATGTATAAATATATATAATTATA TATATTTATATATAATTTTATATATAAATATATATAATTATATATATTTA TGTATAAATATAATTTTATATATAAATATATATAATTTTATATATATAAT TATATATAAATATATATAATTATATATATTTATATATAAATTATATATAA TTTTATATATAATATATATAATTTTATATATTATATATAAATATATATAT AATTTATATATAAATATATAAAATTATATATAAATATATATAATTTATAT ATAAATATGTATAATTTTATATATAAATAGATATAATTTTATATATTTAT TTATATAAATTTTATATATTTATATAAATAAATATATATTTATATATAAA AATTTATATACAAATATATATAAATATATACAAATATATATATAAATTTA TATAAATATATATAAATATATACAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL18A1_chr21_45400165_45518720	45500921	T T	TGTTGGGT others(598): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT GGTTTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03688.hp2 HG03942.hp2 others(1): Show HG02895.hp2 HG03688.hp2 HG03942.hp2 NA19240.hp2	a0001 a0022 a0024 a0001 a0022 a0024	a0001c0003 a0001c0004 a0022c0068 others(1): Show a0001c0003 a0001c0004 a0022c0068 a0024c0066	a0001c0003t0001 a0001c0004t0001 a0022c0068t0010 others(1): Show a0001c0003t0001 a0001c0004t0001 a0022c0068t0010 a0024c0066t0010	a0001c0003t0001g0048 a0001c0004t0001g0214 a0022c0068t0010g0004 others(1): Show a0001c0003t0001g0048 a0001c0004t0001g0214 a0022c0068t0010g0004 a0024c0066t0010g0066	4	292	0.0137	605	c.268 others(624): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTGTAGTGTGGGGGTGTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500921	T T	TGTTGGGT others(598): Show TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT GGTTTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0103 a0002c0103	a0002c0103t0001 a0002c0103t0001	a0002c0103t0001g0136 a0002c0103t0001g0136	1	292	0.0034	605	c.268 others(624): Show c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT TTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTGTGTAGTGTGGGGGTGTGGTTTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CRTC3_chr15_90524923_90650345	90647407	C C	CTCCAACC others(598): Show CTCCAACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCCCTCCAATTC CACAGCCCTCCTCCACCTCCACACACCCAATCCTCCTCCAGTCCTCCTCC TCCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCTCACCTCCTC CTGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTCCACACTCAC TCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCCCTCCTCAAC TTCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTCCTCA CCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCATCCTCCAC GCCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTCCTCCTCAC TCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCC ACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCAT ACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTC CTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCT CCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA19030.hp1 HG02809.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0011 a0001c0001t0037	a0001c0001t0011g0140 a0001c0001t0037g0139 a0001c0001t0011g0140 a0001c0001t0037g0139	2	276	0.0073	605	c.52 others(616): Show c.5267_*5268insTCCAACCCCTCCTCCACAGACCTCCCTCTCGTCC ACACCCCTCCAATTCCACAGCCCTCCTCCACCTCCACACACCCAATCCTC CTCCAGTCCTCCTCCTCCACACACCTTCTCCTCCACACACCTTCTCCTCC ACACCTCACCTCCTCCTGCACACCCCTACCCCACCGCACCCCTCCCCCTC CTCCTCCACACTCACTCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTC ACACCCCTCCTCAACTTCCACACCCCTCCCCCTCCTCACCCCTCCCACTT CAACTCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCA CCCATCATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCAC ACCCCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCAC CCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCC CTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCT CCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTC CACACCCCTCCTGCTCCACAT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2063		chr15	TogoVar
DBNDD1_chr16_89999871_90024456	90003721	G G	GTGACTCC others(598): Show GTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACATGCACG TGCGGTGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTTTGACTCCCT CCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	412	0.0024	605	c.26 others(616): Show c.2613_*2614insAAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCGGGCCAGGGGAGGGAGTCAAAGAAGTCCCGCCCCACGT GCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTC ACAGAAGTCCCACCGCACGTGCATGTAAAGGTAGCCCGGGCCGGGGGAGG GAGTCACAGAAGTCCCACCGCACGTGCATGTAAAGGTGGCCCGGGCCGGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGG CCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCGGGGGAGGGAGTCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1149		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003941	G G	GTGACTCC others(598): Show GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTTTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG TGGGACTTCTGTGACTCCCTCCCCTGCCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACGT GCACGTGGAGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCT ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCT GGGCTACCTTTACGTGCACGTGGAGCGGGACTTCTGTGACTCCCTCCCCT GGCCTGGGCTACCTTTACGTGCACGTGGAGCGGGACTTCTGTGACTCCCT CCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCCGGCCCGGGCTACCTTTACGTGCACGTGGAGCGGGACTTCT GTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03130.hp2 HG02615.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	2	412	0.0049	605	c.23 others(616): Show c.2393_*2394insTAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCTCCACGTGCACGTAAAG GTAGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCTCCACGT GCACGTAAAGGTAGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCTC CACGTGCACGTAAAGGTAGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTAGCCCGGGCCGGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGGGGAGGGAGTC ACAGAAGTCCCGCTCCACGTGCACGTAAAGGTAGCCCAGGCCAGGGGAGG GAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGGCAGG GGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCCCGGG CCAGGGGAGGGAGTCAAAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCAGGGGAGGGAGTCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		929		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004067	G G	GCCCGGGC others(598): Show GCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTC CCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGATT CCCTCCCCCAGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTG TGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGTGGGAC TTCTGTGACTCCCTCCCCCGGCCCAGGCCACCTTTACGTGCACGTGGGGT GGGACTTCTGTGACTCCCTCCCCTGCCCCGGGCCACCTTTACGTGCACGT GGGGCGGGACTTCTGTGACTCCCTCCCCCGTCCCGGGCCACCTTTACGTG CACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCAGCCCGGGCCACCTTT ACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCA CCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCCGGCCCA GGCCACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTG CCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTC CCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	412	0.0024	605	c.22 others(616): Show c.2267_*2268insACGGGGGAGGGAGTCACAGAAGTCCCGCCCCACG TGCACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCACC CCACGTGCACGTAAAGGTGGCCTGGGCCGGGGGAGGGAGTCACAGAAGTC CCACCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAG AAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCTGGGGGAGGGAGT CACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGACGGGGGAG GGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGGCAG GGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCCTGG GCCGGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGG CCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAA GGTGGCCCGGGCTGGGGGAGGGAATCACAGAAGTCCCACCCCACGTGCAC GTAAAGGTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCACCCCACG TGCACGTAAAGGTGGCCCGGG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		803		chr16	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(598): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCT AATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGT GCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAA GACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGC GTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCA CTGAAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	334	0.0030	605	c.123 others(624): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGT GCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACAC CATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCA CCACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCA TGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCG GCCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTT ATCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCC GAGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68926144	T T	TTCCAGCC others(598): Show TTCCAGCCTGGGTGACAAAGTGAGACCGTCTCTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTTCTGCC TCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCACCACGCCCAGCT AATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGA TGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTTCGAAAGT GCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTTATCTTTTTAAAA GACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGAGACCATCCTGGC TAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGC GTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCA CTGAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG02027.hp2 others(9): Show HG00642.hp1 HG01168.hp1 HG02027.hp2 HG02257.hp2 HG02523.hp1 HG04184.hp1 NA18954.hp2 NA18961.hp1 NA18997.hp1 NA19010.hp2 NA19062.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0003g0015 a0001c0002t0001g0196 a0001c0002t0001g0203 a0001c0002t0001g0232 a0001c0007t0001g0149	12	334	0.0359	605	c.123 others(624): Show c.1239+6174_1239+6175insTGACAAAGTGAGACCGTCTCTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTCGCCCAGGCTGGAGT GCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACAC CATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGAGCCCACCA CCACGCCCAGCTAATTTGTTGTATTTTTTAGTAGAGACAGGGTTTCACCA TGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCG GCCTTCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCTTT ATCTTTTTAAAAGACAGGTTCACCAGGAGCTGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGCGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTGATGGTGGGCACTTGTAGTCTCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGGTTGCAGTGAGCC GAGATGGCGCCACTGAACTCCAGCCTGGG	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(598): Show GCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCTAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	605	c.86- others(622): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGT GGGAGGGGTGGGTGGGTGCTGTCCTAGGATCCGGCTGTGGGAGGGGTGGG TGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCT GGGATCCGGCTGTGGGAGGGGTGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(598): Show CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCTCCCAC AGCCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCC AGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCA CCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGA TCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCC CACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATC CGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCAGATCCCAGGACGGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCC CAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC CACCCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	605	c.86- others(622): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTG GGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGT CCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGT GGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGG TGGGTGGGTGCCGTCCTCGGATCCGGCTGTGGGAGGGGGGTGGGTGGGTG CTGTCCTGGGATCCGGCTGTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	600442	A A	AGATGCTC others(598): Show AGATGCTCCGGAGCCACCCGACAGCCCCTTCCACCTTAAAGAGGACGGCC CAGGGTGTTCGGATGCTCCGGAGCCACCCGACAGCCCTTTCCACCTTAAA GACGACGGCCCAGGGTGTTCGGATGCTCCGGAGCGACCCCACAGCCCTGT CCACCTTAAAGAGGACGGCCCAGGGTGTTCGGATGCTCCGGAGCCACCCG ACAGCCCTTTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCG GAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTG CGGATGCTCCGGAGCCACCCGACAGCCCTTTCCACCTTAAAGAGGACGGC CCAGGGTGTGCGGATGCTCCGGAGCGACCCCCACAAGCCCTGTCCACCTT AAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCC CTGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGA CCCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATG CTCCGGAGCCACCCGACAGCCCTTTCCACCTTAAAGAGGACGGCCCAGGG TGTGCG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	88	0.0114	605	c.85+ others(622): Show c.85+89051_85+89052insCGCACACCCTGGGCCGTCCTCTTTAAGG TGGAAAGGGCTGTCGGGTGGCTCCGGAGCATCCGCACACCCTGGGCCGTC CTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACAC CCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAG CATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGG GTCGCTCCGGAGCATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGAAA GGGCTGTCGGGTGGCTCCGGAGCATCCGCACACCCTGGGCCGTCCTCTTT AAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGG CCGTCCTCTTTAAGGTGGAAAGGGCTGTCGGGTGGCTCCGGAGCATCCGA ACACCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTGTGGGGTCGCTCCG GAGCATCCGAACACCCTGGGCCGTCGTCTTTAAGGTGGAAAGGGCTGTCG GGTGGCTCCGGAGCATCCGAACACCCTGGGCCGTCCTCTTTAAGGTGGAA GGGGCTGTCGGGTGGCTCCGGAGCATC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(598): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0002 a0001c0043t0002	a0001c0043t0002g0102 a0001c0043t0002g0102	1	358	0.0028	605	c.236 others(624): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DPEP1_chr16_89608642_89643433	89634891	C C	CCCTTTCC others(598): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCC TTCCTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19240.hp2 HG02818.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0127 a0003c0003t0002g0128	2	250	0.0080	605	c.105 others(622): Show c.105-1017_105-1016insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158915958	G G	GTGGTTGA others(598): Show GTGGTTGACATTAAGGATGATTGTGAAACGTTTACACGCTGGTTGACATT AAGGATGATTGTGAAACGTCGACATGCTGGTTGACATTAAGAATGATTGT GAAACCTCGACACGGTGGTTGACATTAAGGATGATTGTGAAACCTCAACA CGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGA TTAAGGATGATTGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTG AAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACATCAACAC GCTGGTTGGCATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGAC ACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAG ATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGAT TGTGAAACATCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCG ACACGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	274	0.0037	605	c.179 others(624): Show c.1791+1667_1791+1668insTTACACGCTGGTTGACATTAAGGATG ATTGTGAAACGTCGACATGCTGGTTGACATTAAGAATGATTGTGAAACCT CGACACGGTGGTTGACATTAAGGATGATTGTGAAACCTCAACACGCTGGT TGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGA TGATTGTGAAACGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGGTGGTTGAGATTAAGGATGATTGTGAAACATCAACACGCTGGTT GGCATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGAT GATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACG TCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGG TTGACATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGG ATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAA CATCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCT GGTTGACATTAAGGATGATTGTGAAACGT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(598): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCT GCCCACCCTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATC CTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACC CGACCCTCCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCT CCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCG CATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTC AGGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAC CTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCA CCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCAACCTCC ACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCAC CCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03579.hp1 HG02055.hp1 HG02630.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	3	374	0.0080	605	c.14 others(616): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGGTTCCTTGAGGATGC AGAGGAGGGTCAGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGG TTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGC AGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAG AAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTC GGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTTGGGTGG AGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGG GCAGGTTCCCTGAGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(598): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATTTACATACATATA AATATATATTTACATACATATAAATATATACATTTATATACATATAAATA TATACATATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATATATTTATATATATATAAATATATATATATTTGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG01993.hp2 others(6): Show HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG03540.hp1 NA19077.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0112 others(6): Show a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0112 a0002c0002t0002g0053 a0002c0002t0002g0116 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0172 a0003c0003t0002g0194	9	292	0.0308	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAATATACATACATATATATTTATATGTATATAC ATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19066.hp2 NA18941.hp1 NA19066.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0045 a0002c0008t0002g0046 a0002c0008t0002g0045 a0002c0008t0002g0046	2	292	0.0069	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TATAAATATATATATATTTATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19010.hp1 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0152 a0001c0001t0001g0169	2	292	0.0069	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATAAATATATATATATTTATATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TATAAATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0208 a0003c0003t0002g0208	1	292	0.0034	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATTTATATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATTTGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0211 a0004c0006t0001g0211	1	292	0.0034	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATATATTTATATATATATAAATATATATATATTTGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	292	0.0034	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATGTAAATATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATATTTATATGTATATAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(598): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATACATTTATATACATATAAATATATACATATATACATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATATATTTATATATATATAAATATATATATATTTGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATTTATATACATATAAATATAAATATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18966.hp2 NA18971.hp1 others(5): Show NA18953.hp2 NA18966.hp2 NA18971.hp1 NA18982.hp1 NA19002.hp2 NA19010.hp2 NA19064.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 others(1): Show a0001c0001 a0001c0004 a0004c0005 a0004c0006	a0001c0001t0002 a0001c0004t0002 a0004c0005t0002 others(1): Show a0001c0001t0002 a0001c0004t0002 a0004c0005t0002 a0004c0006t0002	a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0049 a0001c0001t0002g0142 a0001c0004t0002g0149 a0004c0005t0002g0243 a0004c0006t0002g0234	8	292	0.0274	605	c.49 others(616): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCCACAGG others(598): Show TCCACAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCTCAG CCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCGGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT AGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCACAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGCAGGCC ACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	314	0.0032	605	c.17 others(616): Show c.1797_*1798insCCACAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCACAGGCCACCCTCCCTCCCTCCTCAGCCCAG GGACCTCGGCAGGCCACCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(598): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCGT TCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTCGT GTTGTGTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGAC TCGTTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	441	0.0023	605	c.35- others(618): Show c.35-515_35-514insGAACGAGTCCACCGCGTCTAACACAACACGAA CGAGTCCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACAC GAACGAACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGA ACGAGTCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAAC GAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGA ATCCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAAC CCTCCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCAC CGCGTCTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCG CGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCG TCTAACACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTC TAACACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTA ACACGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(598): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGATGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGT GGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGC GGTTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0096 a0006c0007t0096	a0006c0007t0096g0219 a0006c0007t0096g0219	1	282	0.0036	605	c.684 others(618): Show c.684+66_684+67insGAAAGGGTGTGGGATGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGG GGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGC GATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTTGGG GGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(598): Show TGGGAGGGGGAATGGAGGTTGGGGGGGAAAGGGTGTGGGGTGCGATTGGG GGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAG GGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGG GAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAAT GGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGG GGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGG GTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGT GGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGG ATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGC GGTTGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0058 a0001c0002t0050g0058	1	282	0.0036	605	c.684 others(618): Show c.684+66_684+67insGGAAAGGGTGTGGGGTGCGATTGGGGGAGGGG GAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAAT GGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGA GGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTT GGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGG GTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGT GGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGG GTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGC GATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGAT TGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGG GGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTPBP6_chrX_299759_323796	322507	A A	AAAAAAAA others(598): Show AAAAAAAAGAAAAGAGAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTCGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTT TGACACCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGT CCCAGCTGCTCGGGACGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGTT TGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATCGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACA AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTG GTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGC TTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATT ATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	155	0.0065	605	c.-37 others(616): Show c.-3721_-3720insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTT CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTAC CATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCGATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGC TAATTTTTCTTTTCTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTAC CATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCAC CTCAGCGTCCCGAGCAGCTGGGACGACAGGCACCCACCACCACGCCCGGC TAATTTCTCTTTTCTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3712		chrX	TogoVar
KIAA0930_chr22_45187244_45245894	45228743	T T	TACCACCA others(598): Show TACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGA TCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACC CCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGA TCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCC CCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAA CACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAA AGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA CCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAA GATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCAC CCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	398	0.0025	605	c.64+ others(622): Show c.64+11896_64+11897insTGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGA TCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGG GGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGA GGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTG GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTG GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAG GGATCTCTCAGGTGAGTGTTTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LRPAP1_chr4_3498612_3537422	3509283	T T	TTGAGACG others(598): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGT GGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTCAA CGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCA GTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACA CGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTC ACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTG GAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCC GACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAG ACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGAGACTG CTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0153 a0011c0016t0153	a0011c0016t0153g0118 a0011c0016t0153g0118	1	420	0.0024	605	c.36 others(616): Show c.3690_*3691insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCC GGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAG TCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTC AGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGC GTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAG TCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGAC TCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCA	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3690		chr4	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(598): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCA TCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATC CATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTG TCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAAC CATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCA TCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACT TGTCCACCCATACACCTGTTCACCCCATCCACCCATCCATCCATCCATCC ATCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	372	0.0027	605	c.55 others(616): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGG TGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTG GGTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGA TGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATG GGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAG AGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTG GGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTG AGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGG CAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTG GATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGG AGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(598): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCA TCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACC CACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTG TTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATC CATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCA TTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACC TGTTCACACCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCC ATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0242 a0001c0008t0016g0242	1	372	0.0027	605	c.55 others(616): Show c.5547_*5548insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGTGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTG GGTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGA TGAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATG GATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGG TGGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATG GATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGG TGGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGA TGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATG GGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGG TGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(598): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCCATCCATCCATCCATCCAT CCATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACC ATCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTAC CCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCT GTTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTAT CCATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCC ATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACAC CTGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCC ATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0150 a0001c0001t0025g0150	1	372	0.0027	605	c.55 others(616): Show c.5547_*5548insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGGATGGATG GATAGGCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGA TGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATG GGTGGGTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGG TGGATGGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(598): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGGAAAGGGGGAGGGGAGAAGGGGAGGGGC AGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAA GGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAG GGGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAG GGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGG AGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGG AGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGA GGGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	272	0.0037	605	c.250 others(620): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCC TTTCCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(598): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGG CCCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGATGGAGGTGGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	256	0.0039	605	c.241 others(624): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(598): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGC CCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGATGGAGGTGGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	256	0.0039	605	c.241 others(624): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGG ACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG ACTGACCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425004	A A	ATATATAT others(598): Show ATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATTTAGCTATATT TATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAG AAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACT ACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTA AATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATAT ATATATAAATATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0204 a0001c0002t0008g0204	1	312	0.0032	605	c.293 others(624): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATATAAATATATATATATAATTATATATATATATTTAGGT CCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTT TTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAAT ATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTGTA TATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(598): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTATATAGTTCATATATAATATGTTCATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATTCATATA TTTCATATATATGTTCATATATATATATTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATTTCATATATATGTTCATATATATATTCATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	364	0.0028	605	c.394 others(620): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTATATAGTTCATA TATAATATGTTCATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATTCATATATTTCATATATATGTTCATATATATATATTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATTTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCCACAGG others(598): Show TCCACAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCTCAG CCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCGGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT AGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCACAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCGGCAGGCC ACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	319	0.0031	605	c.-33 others(616): Show c.-3315_-3314insCCACAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCACAGGCCACCCTCCCTCCCTCCTCAGCCCAG GGACCTCGGCAGGCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(598): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGT ATACTGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTG TATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTAT GTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACTATACAGTATGTATACTGTATATATACACAATACAGTATGTATA CTGTATATATACACAATACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACAC ACAGTA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0091 a0002c0008t0004g0091	1	362	0.0028	605	c.-75 others(624): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATTGTGTATATATACAGTATACATACTGTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGT ATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCA GTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATACA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATACATACAGTATACA TGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(598): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGT ATACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATA CTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTA TATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACAC ACAGTA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	362	0.0028	605	c.-75 others(624): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATT GTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACAT ACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTA TGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATACATACAGTATACA TGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(598): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATGTA TACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTATA CTGTATGTATGTATACTGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTGTATATATACACAGTATGTATACCGTGTATATATA CACAGTATGTATACCGTGTATATATACACAGTATGTATACCGTGTATATA TACACAGTATGTATACCGTGTATATATACACAGTATGTATACTGCATACA GTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATAC ACTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGT ATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATG TATACTGTATATATACACTATACAGTATGTATACTGTATATATACACTAT ACAGTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	362	0.0028	605	c.-75 others(624): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATA TACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAG TGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATA CTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTATACATACTG TGTATATATACACGGTATACATACTGTGTATATATACACGGTATACATAC TGTGTATATATACACGGTATACATACTGTGTATATATACACGGTATACAT ACTGTGTATATATACACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACAGTATACATACATACAGTATACATACATACAGTATAC ATACATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATA CATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATAT ATACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOL4L_chr20_32438059_32590333	32563138	A A	AGTGCAGG others(598): Show AGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAGAAGGTA AGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGTGGAGGG AGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAGGGAGGG TGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGA AGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGAGGGAGGGAGAGTGGG GAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGTGGAG GGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGGTGGAGGG CAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGGGGAGGGT GGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGAGGGGAGG GAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGAGGGAGGG TGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAGGGTGGAG GGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGG GTGGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0189 a0001c0002t0032g0189	1	196	0.0051	605	c.321 others(624): Show c.321+21431_321+21432insCTCCACCCTCCCTCCCCTCCACCTTC CCCACTCTCCCTCCCTCCACCCTCCTTCCCCTCCACCCTCCCTCTCCACT CTCCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCCCACCCTCCC TGCTCTCCACCCTCCCTGCCCTCCACCCTCCCTCCCCTCCAACCTCCCCA CTGTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCACTCTCCCTCC CTCCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCTCCCCACTCT CCCTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCCCCACTCTCC CTCCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCCTCCCTCCCC CCTGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCCTCC ATCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCCTCCC TGTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTGCCTT CCACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCCTCCC CACTCTCCCTCCCTCCACCCTCCCTGCAC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOS3_chr7_150986017_151019588	150995593	C C	CCCCCCAT others(598): Show CCCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCT CCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAA CCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCC CCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCC CTCTCCCCATCCCACCCCTGCACCCCTTTCCCCCCTCCCACCCCTGCACC CTTCCTCCCTCTCCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCT AAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGT CCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCC TCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCA CACCCCTGCACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCCTCCT CCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCTCTGCCCCCGTCCCA CCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCCTTGCACCCCTCCTC CCTCTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	382	0.0026	605	c.270 others(620): Show c.270+284_270+285insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCC CACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCC TGCACCCTTCCTCCCTCTCCCCATCCCACCCCTGCACCCCTTTCCCCCCT CCCACCCCTGCACCCTTCCTCCCTCTCCCCCATCCCACCCCTGCACCCCT CCCATCCCACCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAA CCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCACC CCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCCCT CTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCACCC TTGCACCCCTCCTCCCTCTTCCCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 10000 hits)