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
DYM_chr18_49031387_49465645	49440824	A A	AATATATG others(411): Show AATATATGACTATATATTATATATTTATATAATATATGACTATATATTAT ATATTTATATAATATATGACTATATATTATATATTTATATAATATATGAC TATATATTATATATTTATATAATATATGACTATATATTATATATTTTATA TAATATATGACTATATATTATATATTTATATAATATATGACTATATATTA TATATTTATATAATATATGACTATATATTATATATTTATATAATATATGA CTAATATATTATATATTTATATAATATATGACTATATATTATATATTTAT ATAATATATGACTATATATTATATATTTATATAATATATGACTATATATT ATATATTTATATAATATATTTATATAAATACATTATATTTTATATATTTA TATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	290	0.0035	418	c.-53 others(437): Show c.-53-10378_-53-10377insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATTATATAAATATATAATATAT AGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATA TATAATATATAGTCATATATTATATAAATATATAATATATTAGTCATATA TTATATAAATATATAATATATAGTCATATATTATATAAATATATAATATA TAGTCATATATTATATAAATATATAATATATAGTCATATATTATATAAAA TATATAATATATAGTCATATATTATATAAATATATAATATATAGTCATAT ATTATATAAATATATAATATATAGTCATATATTATATAAATATATAATAT ATAGTCATATATTATATAAATATATAATATATAGTCATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137819425	C C	CTGAGGGG others(411): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCTGATTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGAC TGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAG ACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGG CGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 NA20905.hp1 HG01106.hp2 HG01169.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0018 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0018	3	170	0.0177	418	c.354 others(437): Show c.3540+1298_3540+1299insGTGTACCGAGACCGTAGAGAGGCTGA TTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAG ACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3331307	T T	TTCAGCAG others(411): Show TTCAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGC AGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATAC ACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGATG GTGTCAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAGAG GCAGGTGTGTATACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTAT ACACTCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGA TGGTGTGAGCAGAGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACTCATGAGATGGTGTCAGCAGAGGCAGGTGTGT ATACACTCATGAGATGGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03492.hp1 HG00741.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0069 a0001c0001t0003g0070 a0001c0001t0002g0069 a0001c0001t0003g0070	2	250	0.0080	418	c.259 others(435): Show c.259+6709_259+6710insCACCATCTCATGAGTGTATACACACCTG CCTCTGCTGACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGACA CCATCTCATGAGTGTATACACACCTGCCTCTGCTCACACCATCTCATGAG TGTATACACACCTGCCTCTGCTCACACCATCTCATGAGTGTATACACACC TGCCTCTGCTCACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGA CACCATCTCATGAGTGTATACACACCTGCCTCTGCTGACACCATCTCATG AGTGTATACACACCTGCCTCTGCTCACACCATCTCATGAGTGTATACACA CCTGCCTCTGCTCACACCATCTCATGAGTGTATACACACCTGCCTCTGCT CACACCATCTCATGAGTGTATACACACCTGCCTCTGCTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(411): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATTAGCAGATTATTTTAT AATAATATTATATAATATGTATTAATAACATATAATATAATATACAATCT ATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	314	0.0032	418	c.40 others(429): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATATTAA TATTATTATAATTATTATAATAGTATATAATATAATTATATATTACATAT TATTATATATAATATAATATATAATATAACATATTATATATTATTATATA TAATATAATATATAATATATTATTATATATAATATAATATATAATATATT ATATATTATAATAATATATATGTTATGTAATATATAATATATTATATATA ATAATATATAATATAATATATAATATATTAAGATTATATATGATATGTAA TATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(411): Show GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAG AGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0307 a0001c0001t0004g0307	1	370	0.0027	418	c.39 others(429): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCT CCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27999069	G G	GTATATAA others(411): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATATAAATATATATATTTATATATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0041 a0002c0002 a0011c0041	a0002c0002t0002 a0011c0041t0002 a0002c0002t0002 a0011c0041t0002	a0002c0002t0002g0131 a0011c0041t0002g0184 a0002c0002t0002g0131 a0011c0041t0002g0184	2	292	0.0069	418	c.49 others(429): Show c.4982_*4983insAATATATATTTATATGTATATAATTATATATATT TATATGTATATAATTATATATTTATATGTATATAAATATATATTTATATG TATATATATATAAATATATATATTTATATATATATAAATATATATATTTA TATATATAAATATATATATTTATATATATAAATATATATTTATATGTATA TATGTATATGTATTATATGTATATAAATATATATATTTATATGTTTGTAA ATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAATATACATACATATATATTATATACATATATATTTAT ATGTATATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4204		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71396963	T T	TACACACA others(411): Show TACACACATATATATGTGTGTATATATATATATACACACATATATGTGTG TGTATATATATATATACACATATATATGTGTGTGTATATATATATACACA TATATATGTGTATATATATATACATATATATGTGTATATATATATACATA TATATATGTGTATATATATATATACACACATATATATATGTGTATATATA TATACACATATATATGTGTATATATATACATATATATGTGTATATATATA CACATATATATATGTGTATATATATACATATATATGTGTATATACATATA CATATATGTGTATATACATATACATATATATATGTGTATATACATATACA TATATATATGTGTATATACATATACATATATGTGTATATACATATACATA TATATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0077 a0001c0001t0061g0077	1	96	0.0104	418	c.-16 others(439): Show c.-167-37720_-167-37719insGTATATACACATATATATATATGT ATATGTATATACACATATATGTATATGTATATACACATATATATATGTAT ATGTATATACACATATATATATGTATATGTATATACACATATATGTATAT GTATATACACATATATATGTATATATATACACATATATATATGTGTATAT ATATACACATATATATGTATATATATACACATATATATGTGTATATATAT ATACACATATATATATGTGTGTATATATATATATACACATATATATATGT ATATATATATACACATATATATGTATATATATATACACATATATATGTGT ATATATATATACACACACATATATATGTGTATATATATATATACACACAC ATATATGTGTGTATATATATATATACACACATATATATGTGTGT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(411): Show CCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTC CCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCA CCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATC CCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCG CCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	406	0.0025	418	c.33 others(429): Show c.3309_*3310insCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCC TCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGC CTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCC CTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCACTTCTCCCGCCCCCCCAGC CTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(411): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCACCCTCCAGCCTACCCCTCCCCCCGCCCACCCCC TCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCC GCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCC CTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCTCCCGCCTCCCCCCC AGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTA TCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCG CCCACCCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	406	0.0025	418	c.33 others(429): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCACCCTCCAGCCTACCCCTC CCCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCA CCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCAC CCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCC GCCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGC CTACCCCTCCCCCCGCCCACCCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(411): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATATATACACTATATAGTGTATATATAGTAT ATATATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03942.hp1 NA20805.hp1 HG02698.hp1 HG03942.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0001g0201 a0001c0001t0002g0009 a0001c0001t0001g0141 a0001c0001t0001g0201 a0001c0001t0002g0009	3	204	0.0147	418	c.114 others(437): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATATATAGTGTATATATACACTATATATAC ATATACAGTGTATATATACACTATATATACACTATATATGTATATATATA CATATATAGTGTATATATAGTGTATATATACTATATATATAGTGTATATA TACTATATATATAGTGTATATACACTATATATATAGTGTATATATACTAT ATATAGTGTATATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(411): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCC CTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGT CCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0257 a0001c0001t0002g0258	2	290	0.0069	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCACCTT CCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCA CCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(411): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCC CTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG01934.hp2 others(11): Show HG00438.hp2 HG01928.hp1 HG01934.hp2 HG02135.hp1 HG02155.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp1 NA18995.hp1 NA19011.hp1 NA19012.hp1 NA19067.hp2 NA19077.hp2 NA19082.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0006c0007t0002 a0001c0001t0002 a0006c0007t0002	a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 others(11): Show a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0006c0007t0002g0144	14	290	0.0483	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC CCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCATCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0167 a0005c0009t0004g0167	1	290	0.0035	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCATCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19004.hp1 NA18982.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0182 a0001c0001t0004g0163 a0001c0001t0004g0182	2	290	0.0069	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(411): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCT TCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCCCCCTCCCCT CCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCC TCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG02074.hp2 others(13): Show HG00438.hp1 HG01192.hp2 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02970.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18952.hp2 NA18992.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0161 a0001c0001t0004g0164 others(13): Show a0001c0001t0004g0005 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0183 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212	16	290	0.0552	418	c.972 others(433): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPR173_chrX_53043789_53085615	53074166	A A	ATAAATAT others(411): Show ATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACAT GTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTC ATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATAT ATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATAC ATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTAT TCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATAT ACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTT ATTCATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	208	0.0048	418	c.-97 others(435): Show c.-97-2331_-97-2330insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATGTAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074265	C C	CACATATA others(411): Show CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATAAATATATATAAATATACATGTATATTTATTCACATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCACATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATTTACATATAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0009 a0001c0002t0005g0009	1	208	0.0048	418	c.-97 others(435): Show c.-97-2259_-97-2258insCATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCACATATAAATATATATAAATATACA TGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATTTACATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(411): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATT TATATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATA TATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATA ACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATT TATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	208	0.0048	418	c.-97 others(435): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA TATATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGT TATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATA TATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATA AATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATA TAGATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(411): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGCGTGTGTGTGT GTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTGTGT ATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGGTAT CTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTATGGG TGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGGGTGT GGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTGTGA GTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTGTGT GGCTATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02965.hp1 HG01109.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0049 a0002c0003t0050 a0001c0001t0049 a0002c0003t0050	a0001c0001t0049g0103 a0002c0003t0050g0108 a0001c0001t0049g0103 a0002c0003t0050g0108	2	202	0.0099	418	c.262 others(435): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGCGTGTGTG TGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGTG TGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGGG TATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTAT GGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGGG TGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGTG TGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGTG TGTGGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IDE_chr10_92446684_92579093	92524442	A A	ATATAATA others(411): Show ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATATTATATAATATATATTAT ATTATATATAATATATTTTATATATTATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATAATATATATTATATTATATATAATATATTTTA TATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	314	0.0032	418	c.661 others(435): Show c.661+7305_661+7306insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATATAATATAATATATAT TATATATTATATAAAATATATTATATATAATATAATATATATTATATATT ATATAAAATATATTATATATAATATAATATATATTATATATTATATAAAA TATATTATATATAATATAATATATATTATATATTATATAAAATATATTAT ATATAATATAATATATATTATATATTATATAAAATATATTATATATAATA TAATATATATTATATAATATATAAAATATATTATATATAATATAATATAT ATTATATAATATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775180	G G	GGAGGGAG others(411): Show GGAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGGGCAGGG GGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGAGGGGCAGGAGGAGGGGCAGGGAGGAGGGGCAGG GGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAGACAGGGAGGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	204	0.0049	418	c.978 others(435): Show c.978-2490_978-2489insAGGGAGGAGGGGGGGCAGGGAGGAGGGA CGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGAGGGGCAGGAGGAG GGGCAGGGAGGAGGGGCAGGGGGAGGAGAGACAGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGACAGGG AGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5E_chr9_136423619_136444845	136431599	C C	CCCCCCCA others(411): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCA GGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCA CCTCTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCT CATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCC TCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCGCCACGCC CGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCC CAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCT CACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCC TCATCTCCCTCCACGCCCG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	382	0.0026	418	c.154 others(435): Show c.1549+224_1549+225insCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGG GGGGGCGGGCGTGGAGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGG GCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGCGGGCGTGGCG GGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGA GGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGT GAGGGCCTGGGGGGGCGGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCT GGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGGGGGGGC GGGCGTGGCGGGAGATGAGGAGAGGTGAGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(411): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0174	1	308	0.0033	418	c.127 others(437): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
ITGA11_chr15_68291532_68437163	68400885	A A	AAATATTA others(411): Show AAATATTATATTATATATTATATAATAAATATTATATTATATATTATATA ATAAATATTATATTATATATTATATAATAAATATTATATTATATATTATA TAATAAATATTATATTATATATTATATAATAAATATTATATTATATATTA TATAATAAATATTATATTATATATTATATAATAAATATATTATATATTAT ATAATAAATATTATATTATATATTATATAATAAATATTATATTATATATT ATATAATAAATATTATAATATTATATATTATATAATAAATATTATAATAT TATATATTATATAATAAATATTATAATATTATATATTATATAATAAATAT TATATTATATATTATATAATAAATATTATATTATATATTATATAATAAAT ATTATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0075 a0004c0075	a0004c0075t0034 a0004c0075t0034	a0004c0075t0034g0015 a0004c0075t0034g0015	1	242	0.0041	418	c.164 others(435): Show c.164+2032_164+2033insATATATTATATAATATAATATTTATTAT ATAATATATAATATAATATTTATTATATAATATATAATATAATATTTATT ATATAATATATAATATTATAATATTTATTATATAATATATAATATTATAA TATTTATTATATAATATATAATATTATAATATTTATTATATAATATATAA TATAATATTTATTATATAATATATAATATAATATTTATTATATAATATAT AATATATTTATTATATAATATATAATATAATATTTATTATATAATATATA ATATAATATTTATTATATAATATATAATATAATATTTATTATATAATATA TAATATAATATTTATTATATAATATATAATATAATATTTATTATATAATA TATAATATAATATTTATTATATAATATATAATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCC CCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCC TCCACACGTGTAGCTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0283 a0005c0023t0001g0283	1	338	0.0030	418	c.117 others(439): Show c.1170-14170_1170-14169insGGAGAGCTACACGTGTGGAGGGGG ACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTG GGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTC CACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGC TCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0186 a0002c0002t0006g0186	1	338	0.0030	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGC AGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGG GGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0003c0019 a0002c0010 a0003c0019	a0002c0010t0057 a0003c0019t0068 a0002c0010t0057 a0003c0019t0068	a0002c0010t0057g0099 a0003c0019t0068g0137 a0002c0010t0057g0099 a0003c0019t0068g0137	2	338	0.0059	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0174 a0002c0002t0006g0174	1	338	0.0030	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(411): Show ACCCACCCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCT CCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAG CTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACC CCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCC CTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0006 a0001c0003t0050g0006	1	338	0.0030	418	c.117 others(439): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTG CAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGG GGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGG GTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(411): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATCTATATATATCCAAGAGGATATATATATCTATATA TATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATATC TATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	232	0.0043	418	c.-67 others(437): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATAT ATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGG ATATATATATATATATATATCCAAGAGGATATATATATATATATATATCC AAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATCTATATATATCCAAGAGGATATATATAT CTATATATATCCAAGAGGATATATATATCTATATATATCCAAGAGGATAT ATATATCTATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(411): Show CCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTCCACCCTCCAACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTC CACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCAT CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCC TCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCG CCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCA CCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0073 a0001c0001t0016g0073	1	398	0.0025	418	c.64+ others(435): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGAT CTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGTTGGAGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGC GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780908	A A	ACACACAC others(411): Show ACACACACACAGCTCCACACACACACACACACACACAGCGCCACACACAC ACAGCTCCACACACACACACACAGCTCCACACACACACAGCTCCACACAC ACACACACAGCTCCACACACACACACACACAGCTCCACACACACACACAC AGCTCCACACACACACAGCTCCACACACACACACACAGCTCCACACACAC ACACACAGCTCCACACACACACAGCTCCACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAC ACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACAC ACACACACAGCTCCACACACACACACACAGCTCCACACACACACAGCTCC ACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0015 a0004c0016t0015	a0004c0016t0015g0094 a0004c0016t0015g0094	1	330	0.0030	418	c.882 others(435): Show c.882+1681_882+1682insGAGCTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG GCGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997285	G G	GGGGCGGG others(411): Show GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	375	0.0027	418	c.-21 others(429): Show c.-2184_-2183insGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCT GCAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		385		chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(411): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGG AGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	316	0.0032	418	c.583 others(433): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTCTCCTCCTCCTCTT ATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCC ACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCC TCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCC ACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCC TCCCCCTCCCCTCCTCCCTCTCCTTCCCTCTTCCCTCTCCTCCCCTTCCT CCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(411): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGCAGGAGGAGGGGGGGAGGGGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	316	0.0032	418	c.583 others(433): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCTCCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCATTTTCTCCTCCTCCTCTTA TTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCA CTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCCCT CCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCCA CTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCCT CCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCCT CCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LHPP_chr10_124456823_124619141	124507062	A A	AGGGGTAG others(411): Show AGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	260	0.0039	418	c.624 others(435): Show c.624+8955_624+8956insCGGGGGGTTAGAGAGGATTTCAGGTGGG AGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGG GGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953632	C C	CTCCTGCA others(411): Show CTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACATGTC CACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACC CACCCCACACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCA GCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACA TCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACA CCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCACAC CAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTGCA CATCCACACAGACACAGACCCGAAACCAGCCTCCTGCACATCCACACAGA CACAGACCCGAAACCAGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01934.hp2 others(1): Show HG00140.hp1 HG00323.hp2 HG01934.hp2 HG03516.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0024 a0001c0005 a0009c0024	a0001c0005t0001 a0001c0005t0012 a0009c0024t0001 a0001c0005t0001 a0001c0005t0012 a0009c0024t0001	a0001c0005t0001g0109 a0001c0005t0001g0116 a0001c0005t0012g0110 others(1): Show a0001c0005t0001g0109 a0001c0005t0001g0116 a0001c0005t0012g0110 a0009c0024t0001g0117	4	294	0.0136	418	c.503 others(433): Show c.503+724_503+725insAGCTGGTTTCGGGTCTGTGTCTGTGTGGAT GTGCAGGAGGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCT GGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGG GTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGG ACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGG CTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGT CCGTGTCTGTGTGAACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGT GGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGA AGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953959	A A	AACCAGCC others(411): Show AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCC ACACAGACACCCACCCCAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	294	0.0034	418	c.503 others(433): Show c.503+397_503+398insGTGGGGTGGGTGTCTGTGTGGACATGTAGG AAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCG GGTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTT GGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTC TGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACATG TAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGT TTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP1_chr12_57123483_57218361	57191935	C C	CACACTAC others(411): Show CACACTACACACCCCACACACACACCACATACACACACCACACACACACC ACACCACATACACACACCACACACACACCACAAAACATACACACATTCCC CACACACACACCATACATACCACATACGCACACCACCGCACACACATACA TACACACATAGCACACACACTGCAGCACACACGAGATACACACCACACCA TACAACACACCACACACACCACACAGGACATGTACACCACACACACAACC AACACACATCACATGCACACACACATACACACACCACACATACTATACCA CATACACATGCAGTACACACACCACACCACACACACACCACAGACACAGA TACCACACACACTGCAGCACACACAAGACACACACCACACCATGTAACAC ACCACACACACACCACGCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0006 a0006	a0006c0062 a0006c0062	a0006c0062t0001 a0006c0062t0001	a0006c0062t0001g0252 a0006c0062t0001g0252	1	276	0.0036	418	c.742 others(435): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACATACATACACACATAGCACACACACTGCAGCACACACG AGATACACACCACACCATACAACACACCACACACACCACACAGGACATGT ACACCACACACACAACCAACACACATCACATGCACACACACATACACACA CCACACATACTATACCACATACACATGCAGTACACACACCACACCACACA CACACCACAGACACAGATACCACACACACTGCAGCACACACAAGACACAC ACCACACCATGTAACACACCACACACACACCACGCAACAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CATAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT TATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0073 a0009c0073	a0009c0073t0001 a0009c0073t0001	a0009c0073t0001g0032 a0009c0073t0001g0032	1	152	0.0066	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACATAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT CATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0022 a0049 a0022 a0049	a0022c0010 a0049c0077 a0022c0010 a0049c0077	a0022c0010t0001 a0049c0077t0001 a0022c0010t0001 a0049c0077t0001	a0022c0010t0001g0138 a0049c0077t0001g0140 a0022c0010t0001g0138 a0049c0077t0001g0140	2	152	0.0132	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTCATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(411): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATATA ATTATATATAATTATATATAATTTATATACTTATAAATATGTAATTATAT ATGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATAT AATATATAATATATAGTATAATACAAAATATACATTATAATATATTATAT AAAAATATTATAATATATAATAATATATATTATAATATATATAATATATA TAATATATTATAATATATATTATATATAGTATAATATATATATTATAATT TATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01074.hp1 others(46): Show HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03579.hp1 HG03704.hp1 HG04228.hp2 NA18957.hp1 NA18964.hp2 NA18971.hp1 NA18981.hp1 NA18998.hp1 NA19030.hp1 NA19063.hp1 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(35): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0018 a0020 a0022 a0023 a0024 a0025 a0026 a0033 a0035 a0036 a0039 a0040 a0041 a0042 a0045 a0047 a0048 a0054 a0057 a0063 a0064 a0066 a0068 a0083	a0001c0001 a0001c0003 a0001c0076 others(44): Show a0001c0001 a0001c0003 a0001c0076 a0001c0120 a0002c0020 a0002c0027 a0004c0005 a0005c0012 a0005c0058 a0006c0004 a0007c0015 a0008c0006 a0009c0071 a0010c0014 a0011c0018 a0011c0029 a0012c0092 a0013c0067 a0014c0068 a0014c0116 a0017c0026 a0017c0072 a0018c0017 a0020c0007 a0022c0010 a0023c0060 a0023c0112 a0024c0113 a0025c0013 a0026c0063 a0033c0047 a0035c0044 a0036c0045 a0039c0095 a0040c0093 a0041c0094 a0042c0090 a0045c0066 a0047c0036 a0048c0117 a0054c0069 a0057c0075 a0063c0057 a0064c0059 a0066c0082 a0068c0078 a0083c0054	a0001c0001t0001 a0001c0003t0001 a0001c0076t0002 others(44): Show a0001c0001t0001 a0001c0003t0001 a0001c0076t0002 a0001c0120t0001 a0002c0020t0002 a0002c0027t0001 a0004c0005t0001 a0005c0012t0001 a0005c0058t0001 a0006c0004t0001 a0007c0015t0001 a0008c0006t0001 a0009c0071t0001 a0010c0014t0001 a0011c0018t0002 a0011c0029t0001 a0012c0092t0001 a0013c0067t0001 a0014c0068t0001 a0014c0116t0002 a0017c0026t0001 a0017c0072t0002 a0018c0017t0001 a0020c0007t0001 a0022c0010t0001 a0023c0060t0001 a0023c0112t0001 a0024c0113t0001 a0025c0013t0002 a0026c0063t0001 a0033c0047t0001 a0035c0044t0002 a0036c0045t0001 a0039c0095t0001 a0040c0093t0001 a0041c0094t0001 a0042c0090t0001 a0045c0066t0001 a0047c0036t0001 a0048c0117t0002 a0054c0069t0002 a0057c0075t0001 a0063c0057t0001 a0064c0059t0001 a0066c0082t0001 a0068c0078t0002 a0083c0054t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0003t0001g0056 others(46): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0003t0001g0056 a0001c0076t0002g0075 a0001c0120t0001g0142 a0002c0020t0002g0086 a0002c0027t0001g0060 a0004c0005t0001g0033 a0004c0005t0001g0034 a0005c0012t0001g0039 a0005c0058t0001g0110 a0006c0004t0001g0133 a0007c0015t0001g0122 a0008c0006t0001g0059 a0009c0071t0001g0001 a0010c0014t0001g0135 a0011c0018t0002g0062 a0011c0029t0001g0097 a0012c0092t0001g0017 a0013c0067t0001g0003 a0014c0068t0001g0079 a0014c0116t0002g0085 a0017c0026t0001g0055 a0017c0072t0002g0082 a0018c0017t0001g0137 a0020c0007t0001g0130 a0022c0010t0001g0141 a0023c0060t0001g0027 a0023c0112t0001g0037 a0024c0113t0001g0038 a0025c0013t0002g0066 a0026c0063t0001g0041 a0033c0047t0001g0002 a0035c0044t0002g0084 a0036c0045t0001g0014 a0039c0095t0001g0069 a0040c0093t0001g0015 a0041c0094t0001g0105 a0042c0090t0001g0128 a0045c0066t0001g0012 a0047c0036t0001g0006 a0048c0117t0002g0088 a0054c0069t0002g0089 a0057c0075t0001g0080 a0063c0057t0001g0150 a0064c0059t0001g0151 a0066c0082t0001g0144 a0068c0078t0002g0068 a0083c0054t0001g0036	49	152	0.3224	418	c.299 others(439): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGTT ATAACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATA TACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATA TAAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAA ATATACATTATAATATATTATATAAAAATATTATAATATATAATAATATA TATTATAATATATATAATATATATAATATATTATAATATATATTATATAT AGTATAATATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315378	A A	ATATAATT others(411): Show ATATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATGTATAACTATAATTTATAGAAATATA ATTTATATAAATGTATAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0001 a0002c0039t0001	a0002c0039t0001g0134 a0002c0039t0001g0134	1	152	0.0066	418	c.342 others(437): Show c.3420-8534_3420-8533insCTATAATTTATAGAAATATAATTTAT ATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAA CTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATA GAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATGTATAACTATAATTTATAGAAATATAATTTATATAAATGT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(411): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0050 a0001c0001t0016g0050	1	191	0.0052	418	c.343 others(435): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATGAATATATATATGAATCTATATATGA ATATATATGAATCTATATATGAATATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	390	0.0026	418	c.112 others(435): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG01346.hp1 others(8): Show HG00741.hp2 HG01192.hp1 HG01346.hp1 HG01981.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02895.hp2 HG03942.hp1 NA19056.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0108 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0003g0020 a0001c0001t0003g0050 a0001c0001t0003g0246 a0001c0001t0003g0256	11	390	0.0282	418	c.112 others(435): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01109.hp2 others(5): Show HG00558.hp1 HG00621.hp2 HG01109.hp2 HG01169.hp2 HG02897.hp2 HG02922.hp2 HG03486.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0002g0026 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0002g0026 a0001c0001t0002g0059 a0001c0001t0006g0026 a0001c0004t0001g0228	8	390	0.0205	418	c.112 others(435): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG02055.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0119 a0001c0001t0004g0211 a0001c0001t0001g0119 a0001c0001t0004g0211	2	390	0.0051	418	c.112 others(435): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTT GTAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAG GCTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGA AGACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCA CAAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGG CGGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAA CAGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	418	c.18 others(429): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(411): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01192.hp2 HG01346.hp2 others(9): Show HG00741.hp2 HG01192.hp2 HG01346.hp2 HG01981.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02895.hp1 HG03942.hp2 NA19056.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0002g0017	12	364	0.0330	418	c.18 others(429): Show c.1863_*1864insTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGC CACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCT CGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGG CTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAA TCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACC ATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar

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Search Results (Total: 10000 hits)