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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EVC_chr4_5706201_5819305	5706453	C C	CATACATA others(1052): Show CATACATACATACATACATACATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATACATACATACATA GATAGATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATAGATAGATACATAGATACATAGACAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGA TACATAGATAGATAGATAGATACATAGAGATACATAGATAGATAGATAGA TACATACATACATACATAGATACATAGATAGATAGATAGATACATAGATA CATACATACATAGATAGATAGATAGATAGATACATAGATAGATACATACA TACATAGATAGATAGATACATACATACATAAATAGATAGATACATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATACATAGATAGACAGATA CATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAGATAGATAGATACATAGATAACATACATAGATAGATAGATACATACAT ACATACATACATACATAGATACATAGATAGATAGATACATAGATACATAG ATAGATAGATAGATACATACATACATACATACATAGATACATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGAT ACATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAG ATACATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGAT ACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18949.hp2 NA18975.hp1 others(3): Show NA18941.hp1 NA18949.hp2 NA18975.hp1 NA18993.hp1 NA18994.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0002 a0001c0004t0001 a0001c0004t0022 others(3): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0022 a0001c0004t0038 a0001c0004t0043 a0002c0005t0001	a0001c0002t0002g0061 a0001c0004t0001g0020 a0001c0004t0022g0039 others(3): Show a0001c0002t0002g0061 a0001c0004t0001g0020 a0001c0004t0022g0039 a0001c0004t0038g0079 a0001c0004t0043g0052 a0002c0005t0001g0043	6	369	0.0163	1059	c.-49 others(1070): Show c.-4928_-4927insATACATACATACATACATACATACATAGATAGAT AGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATAG ATACATACATACATAGATAGATAGATACATAGATACATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATACATAG ACAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGAT AGATAGATAGATAGATACATAGATAGATAGATAGATACATAGAGATACAT AGATAGATAGATAGATACATACATACATACATAGATACATAGATAGATAG ATAGATACATAGATACATACATACATAGATAGATAGATAGATAGATACAT AGATAGATACATACATACATAGATAGATAGATACATACATACATAAATAG ATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAC ATAGATAGACAGATACATAGATAGATACATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAG ATAGATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAGATAGATAGATACATAGATAACATACATAGATA GATAGATACATACATACATACATACATACATAGATACATAGATAGATAGA TACATAGATACATAGATAGATAGATAGATACATACATACATACATACATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGACACATAGATAGATACATAGATAGATAGATACATAGATACATAGATA GATAGATACATAGATACATAGATAG		EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding					4747		chr4	TogoVar
EVC_chr4_5706201_5819305	5706453	C C	CATACATA others(1052): Show CATACATACATACATACATACATACATAGATAGATAGATAGATACATAGA TACATACATAGATAGATAGATAGATACATAGATAGATACATACATACATA GATAGATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATAGATAGATACATAGATACATAGACAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGA TACATAGATAGATAGATAGATACATAGAGATACATAGATAGATAGATAGA TACATACATACATACATAGATACATAGATAGATAGATAGATACATAGATA CATACATACATAGATAGATAGATAGATAGATACATAGATAGATACATACA TACATAGATAGATAGATACATACATACATAAATAGATAGATACATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATACATAGATAGACAGATA CATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACA TAGATAGATAGATACATAGATAACATACATAGATAGATAGATACATACAT ACATACATACATACATAGATACATAGATAGATAGATACATAGATACATAG ATAGATAGATAGATACATACATACATACATACATAGATACATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAG ATACATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGAT ACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0150 a0002c0003t0002g0150	1	369	0.0027	1059	c.-49 others(1070): Show c.-4928_-4927insATACATACATACATACATACATACATAGATAGAT AGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATAG ATACATACATACATAGATAGATAGATACATAGATACATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATACATAG ACAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGAT AGATAGATAGATAGATACATAGATAGATAGATAGATACATAGAGATACAT AGATAGATAGATAGATACATACATACATACATAGATACATAGATAGATAG ATAGATACATAGATACATACATACATAGATAGATAGATAGATAGATACAT AGATAGATACATACATACATAGATAGATAGATACATACATACATAAATAG ATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAC ATAGATAGACAGATACATAGATAGATACATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAG ATAGATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGAT AGATAGATAGATACATAGATAGATAGATACATAGATAACATACATAGATA GATAGATACATACATACATACATACATACATAGATACATAGATAGATAGA TACATAGATACATAGATAGATAGATAGATACATACATACATACATACATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGACACATAGATAGATACATAGATAGATAGATACATAGATACATAGATA GATAGATACATAGATACATAGATAG		EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding					4747		chr4	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(1052): Show GGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGAG GCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTG AGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAG GCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGG TGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGG CTGGTGGCAGTGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCA GCGGTGTGGATGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGAG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGC GGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGGTG GAGGCTGGGGTGGAGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG GTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGG AGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCA GCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTG TGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAG GCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGT GAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCT GGTGGCAGCA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	418	0.0024	1059	c.119 others(1078): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCAGCCTCCCCTCA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCTCACCCCAGCCTC CGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCACCCAC ACCGCTGCCACCAGCCTCCCTCCACCCCAGCCTCCACCCACACCGCTGCC ACCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCC CCTCACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACC CCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCTCCACCCCAGCCTCC ACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACC GCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACC AGCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCC CCACCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCCCTCACCCAGC CTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCT GCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCACC CACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGC CTCCACCCACACGGCTGCCACCAGCCTCCCTCACCCCAGCCTCCATCCAC AGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCA CCAGCCTCCTCTCACCCCAGCCTCCACCCACAC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1						chr12	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(1052): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCC CCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCC TTGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACA TACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATTCCCCCCCCCCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCTCAGGGCACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0129 a0005c0012t0001g0129	1	143	0.0070	1059	c.35 others(1070): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGG GGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCTGAGGAGG GAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGG GGGGGGGGAATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGG AGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAG GGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGG GGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGG GATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTG CCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGCCCCAAGGAGGGAGGGGGGATGTGTCCCCT GGAGGGAGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGG GGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAG GGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGG AGGGGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3231		chr13	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(1052): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATATTATATATTTTATATATAATATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATTTTATATATATTATATATTTTATATATAATATATATATATTAT ATATAATATATATTATATATAATATATATATTATATAAAATATATAATAT ATATCTTATATATATCATATATTTTATATATATCATATATTTTATATATA TCATATATTTTATATATAATATATATTATATATACATTATATAATATATA TTATATTATATATAATATATTATATAATATATATTATATATTATACGTAA TATATAATGTATATTATATATAATATACATTATATAATGTATATTATATA TAATATACATTATATACAATGTATATTATATATAATATACATTGTATATA ATGTATATTACATATAATATACATTGTATATAATGTATATTACATATAAT ATACATTATATAATGTATATTACATATAATATACATTGTATATAATGTAT ATTACATATAATATACATTGTATATAATGTATATTACATATAATATACAT TATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATAT TATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATAC ATTATATATAATGTATATATTATATGTAATATATACATTATATATAATGT ATATATTACATGTAATATATACATTATATATAATGTATATTATATGTAAT ATATACATTATATATAATGTATATTATATGTAATATATACATTATATATA ATGTATATTATATGTAATATATACATTATATAATGTATACATTGTATATA ATGTATATTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	350	0.0029	1059	c.94- others(1072): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATTTTATATATATTATATATTTTATATA TAATATATATATATTATATATAATATATATTATATATAATATATATATTA TATAAAATATATAATATATATCTTATATATATCATATATTTTATATATAT CATATATTTTATATATATCATATATTTTATATATAATATATATTATATAT ACATTATATAATATATATTATATTATATATAATATATTATATAATATATA TTATATATTATACGTAATATATAATGTATATTATATATAATATACATTAT ATAATGTATATTATATATAATATACATTATATACAATGTATATTATATAT AATATACATTGTATATAATGTATATTACATATAATATACATTGTATATAA TGTATATTACATATAATATACATTATATAATGTATATTACATATAATATA CATTGTATATAATGTATATTACATATAATATACATTGTATATAATGTATA TTACATATAATATACATTATATATAATGTGTATATTACATGTAATATACA TTATATATAATGTATATTATATGTAATATATACATTATATAATGTGTATA TTATATGTAATATATACATTATATATAATGTATATATTATATGTAATATA TACATTATATATAATGTATATATTACATGTAATATATACATTATATATAA TGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTAA TATATACATTATATATAATGTATATTATATGTAATATATACATTATATAA TGTATACATTGTATATAATGTATATTA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5						chr15	TogoVar
HRNR_chr1_152207076_152229193	152213253	T T	TGAGCCAG others(1052): Show TGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCGGACC CATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCA TAGCTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGA CTGACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATG TAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGC TGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGAC AGAAGAGTGACCCAAGCGAGACTCATATGGGCCACGGCTGGAAGAACGAC CTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACCGGAC CCATGTCGGCCGTGGCTAGGGGACTGGCCAGATCCAGAGCCCTGTCGGCC ATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAG ACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGAT GCAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATG TTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGC CAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCAC CCTGAGCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGA CCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCAT GTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAG CTGGAAGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTG TCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAG ATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGA CCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGA AGACCAACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18988.hp2 NA19082.hp2 NA19084.hp1 NA18988.hp2 NA19082.hp2 NA19084.hp1	a0001 a0001	a0001c0031 a0001c0137 a0001c0031 a0001c0137	a0001c0031t0001 a0001c0137t0001 a0001c0031t0001 a0001c0137t0001	a0001c0031t0001g0036 a0001c0137t0001g0148 a0001c0031t0001g0036 a0001c0137t0001g0148	3	418	0.0072	1059	c.837 others(1068): Show c.8375_8376insCGGTTGGTCTTCCAGCAGTGGCCGACATGGGTCTGG CTCAGGTCAGTCTTCTGGATTTGGTCACCATGAGTCTAGCTCATGGCAGT CCTCTGGTTACACTCAGCATGGATCTGGCTCAGGTCACTCCTCCAGCTAC GAACAACACGGCTCTAGGTCAGGACAGTCATCTAGGGGTGAACAACACGG ATCTAGCTCAGGTTCATCTTCCAGCTATGGTCAGCATGGGTCTGGCTCCC GTCAGTCTTTGGGCCACGGCCAACATGGGTCTGGATCTGGCCAGTCTCCT AGCCCTAGCCGTGGCCGACATGGGTCTGGTTCTGGGCAGTCTTCCAGCTA CGGCCCATATGGGTCTGGCTCAGGGTGGTCTTCCAGCCGTGGCCCATATG AGTCTGGCTCCGGTCACTCTTCTGGCTTAGGTCACCGAGAGTCTCGCTCA GGACAGTCCTCTGGCTACGGTCAACATGGATCTAGCTCAGGTCATTCCTC TACCCATGGGCAACATGGTTCTGCATCAGGACAGTCATCGAGCTGTGGCC AACATGGAGCTAGCTCAGGTCAGTCTTCCAGCCACGGTCAGCATGGCTCT GGCTCAAGTCAGTCTTCTGGCTATGGCCGACAGGGCTCTGGATCTGGCCA GTCCCCTAGCCACGGCCGACATGGGTCCGGTTTGGGGCACTCCTCCAGCC ACGGCCAACATGGGTCTGGCTCAGGTCGTTCTTCCAGCCGTGGCCCATAT GAGTCTCGCTTGGGTCACTCTTCTGTCTTTGGTCAACATGAGTCTGGCTC AGGACATTCCTCTGCTTACAGTCAGCATGGTAGTGGCTCAGGGCACTTCT GTAGCCAAGGACAGCATGGTTCTACATCAGGACAGTCATCAACCTTTGAC CAGGAGGGATCTAGCACAGGTCAGTCTTCCAGCCACGGTCAGCATGGCTC TGGCTCAAGTCAGTCTTCTAGCTATGGCCAACAGGGCTCTGGATCTGGCC AGTCTCCTAGTCGCGGCCGACATGGGTCCGGTTCCGGGCACTCTTCCAGC TACGGCCAACATGGGTCTGGCTC	p.Ser others(1074): Show p.Ser2792_Gly2793insGlyTrpSerSerSerSerGlyArgHisGly SerGlySerGlyGlnSerSerGlyPheGlyHisHisGluSerSerSerTr pGlnSerSerGlyTyrThrGlnHisGlySerGlySerGlyHisSerSerS erTyrGluGlnHisGlySerArgSerGlyGlnSerSerArgGlyGluGln HisGlySerSerSerGlySerSerSerSerTyrGlyGlnHisGlySerGl ySerArgGlnSerLeuGlyHisGlyGlnHisGlySerGlySerGlyGlnS erProSerProSerArgGlyArgHisGlySerGlySerGlyGlnSerSer SerTyrGlyProTyrGlySerGlySerGlyTrpSerSerSerArgGlyPr oTyrGluSerGlySerGlyHisSerSerGlyLeuGlyHisArgGluSerA rgSerGlyGlnSerSerGlyTyrGlyGlnHisGlySerSerSerGlyHis SerSerThrHisGlyGlnHisGlySerAlaSerGlyGlnSerSerSerCy sGlyGlnHisGlyAlaSerSerGlyGlnSerSerSerHisGlyGlnHisG lySerGlySerSerGlnSerSerGlyTyrGlyArgGlnGlySerGlySer GlyGlnSerProSerHisGlyArgHisGlySerGlyLeuGlyHisSerSe rSerHisGlyGlnHisGlySerGlySerGlyArgSerSerSerArgGlyP roTyrGluSerArgLeuGlyHisSerSerValPheGlyGlnHisGluSer GlySerGlyHisSerSerAlaTyrSerGlnHisGlySerGlySerGlyHi sPheCysSerGlnGlyGlnHisGlySerThrSerGlyGlnSerSerThrP heAspGlnGluGlySerSerThrGlyGlnSerSerSerHisGlyGlnHis GlySerGlySerSerGlnSerSerSerTyrGlyGlnGlnGlySerGlySe rGlyGlnSerProSerArgGlyArgHisGlySerGlySerGlyHisSerS erSerTyrGlyGlnHisGlySerGlySer	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	8451/9629	8375/8553	2792/2850			chr1	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(1052): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTATCAC CATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCC CCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACC ACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCAC CACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCAT TATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCATCACCTCCACCACCACCACCACCACCACCAC CATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCCACCA CCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACC ATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCACCAC TATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCA CTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCC TCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTAC CCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAA CCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCC TCCACCATCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	274	0.0037	1059	c.804 others(1076): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTG GTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTA GTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGT GCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGG TGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGT GATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGG AGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTA GTGGTGTTGAAGGAGATGGTGGTGGTGGTGG		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(1052): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGGCAGG GAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGA GGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG GGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGA GGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	204	0.0049	1059	c.978 others(1076): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACA GGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAG GAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(1052): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCACAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGC TCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCC ACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCC CGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0002 a0005c0014t0001g0002	1	140	0.0071	1059	c.133 others(1078): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC ACAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGC TCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTC CCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC CACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144233418	A A	ACCCACCA others(1052): Show ACCCACCATCAACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCGC CTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCTCCCG CAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCC CCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGC ACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC ACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTC TCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGC TCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCTCTC CCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCC ACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCC CGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCT TCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCA GCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0004 a0002c0004t0001g0001 a0002c0004t0001g0004	2	140	0.0143	1059	c.133 others(1078): Show c.1339-5329_1339-5328insAACCTTCCCTCCCCCGCAGCTCCTGC ACCCCACCATCCGCCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCA CCTTCTCTCTCCCGCAGCTCCTGCACCCCACCATCCACCTTCCCTCTCCC GCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACC CACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTC CCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCT CCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCAT CCACCTTCCCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCC CCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTG CACCCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCCACCATCCA CCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCG CAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCACCC CACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTT CTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGC TCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACC ATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCACCATCCACCTTCCCTC CCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCT GCACCCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATC CACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACCTTCTCTCCC CCGCAGCTCCTGCACCCACCATCCACCTTCCCTCCCCCGCAGCTCCTGCA CCCACCATCCACCTTCTCTCCCCCGCAGCTCCTGCACCCCACCATCCACC TTCTCTCCCCCGCAGCTCCTGCACCCCACCATC		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43					INFO_REALIGN_3_PRIME	chr8	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1052): Show TGGCAATTAACATTTTTTTTTTTTTTTTTTTATTATACTCCAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGAC TTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGT TCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAA TGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATT TGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTT GGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCT TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	388	0.0026	1059	c.949 others(1074): Show c.949-809_949-808insTTTTTTTTTTTTTATTATACTCCAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTA TAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTT TTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGC CCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTT CTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAA ATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTT TGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGT CTTTTGTTGCCAGGCAATTAACATTTTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1052): Show TGGCAATTAACATTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGAC TTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGT TCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAA TGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATT TGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTT GGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCT TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(38): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02135.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02965.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp1 NA18977.hp2 NA19058.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0004 a0002c0002t0015 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0015 a0002c0007t0001	a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0148 others(38): Show a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0187 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0220 a0002c0002t0001g0247 a0002c0002t0001g0367 a0002c0002t0004g0141 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0015g0137 a0002c0002t0015g0239 a0002c0007t0001g0199	41	388	0.1057	1059	c.949 others(1074): Show c.949-809_949-808insTTTTTTTTTTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTA TAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTT TTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGC CCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTT CTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAA ATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTT TGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGT CTTTTGTTGCCAGGCAATTAACATTTTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1052): Show TGGCAATTAACATTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGAC TTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGT TCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAA TGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATT TGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTT GGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCC ACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCT TTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAAT TTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTG CTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCT TTTGTTGCCA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	388	0.0026	1059	c.949 others(1074): Show c.949-809_949-808insTTTTTTTTTTTTTATTATACTCTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCT CCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGT GTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACC TATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTAC TGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAAC TCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACAT TTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCT TTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTA TAGCAGCATGATTTATAGTCATTTGGGTATATACCCAGTAATGGGATGGC TGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTG ACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGT GTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTT AATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGA TTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTT TTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGC CCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTT CTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAA ATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTT TGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGT CTTTTGTTGCCAGGCAATTAACATTTTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(1052): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCCCCTCCCTTCCTCCTCCACCCAACCACCCAACCAT CCCAACCCAACCCACCCTCCCAACCAACACCCAACCCACCCAACCATCCC TCCCTCCATCCCTTCCCTACCCTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCTTCCTCCTCTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCT TCCCTCCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCTTCCCTCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCCTTCCCTTCCTTCC TCTACCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCCTTCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	178	0.0056	1059	c.773 others(1074): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCCCCTCCCTTCCTCCTCCACCCAACCA CCCAACCATCCCAACCCAACCCACCCTCCCAACCAACACCCAACCCACCC AACCATCCCTCCCTCCATCCCTTCCCTACCCTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTCCTTCCTCCTCTCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCT TCCTTCCCTTCCCTCCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCTTC CCTCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTTCCCCTTCC CTTCCTTCCTCTACCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCC CTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PDE3B_chr11_14638804_14877044	14841725	A A	ACACCTTC others(1052): Show ACACCTTCTTCACACGATGGCAGAAAGGAGAAGTGCAAGCAGGGGAAATG CCAGATGCTTATAAAACCATCAGATCTTGTGAGACTCACTATCATGAGAA CAGCCTGGAGAAAACTGCCCCCATGATCCGGTTACCTCTACCCTTAGTCC CACCCTTGACATGTGGGGATTATAGGGTTACAATTCAAGATGAGATTTTG GGTGGGAACACAGCCAAACAATATCCCTAAGATGGAAAGAATAGAGATAT TATGTATGGGCTAAATACCGTGGGCTTCTTCTCTACAGCCCACCTGGCTC AGGCCTCTGCTGTGTGCCTTGCTCTCCAGTAAGAGAGACCAATCGTGAGC CCTTAATATGGCACCATTCCCTGAGGGAATATTCAGACATTTGGGTGGTG GTAGATTACATTGGACCCTTTCCTTTATGGAAGAGACAGCTTTTGTTCTC ATTTATTCTGGATGTAGATTTACCTTCATTGTCTATAGCGCTTCACCATC GCCATCCTTGAACTTACTTACTGCCTTATTTACCATCAGGTTATTATAGG TAGTATTGCATCTGATCAAGAAACTAATTTTTTTTGCAAATTGTGGCAGT GGGCTTATGCCCACAGAGTTTACTAATCTTTCCATGAACCTTATCAGTCT ACATCAGACCTGAGAGAATGGTAGAATGACATCTTTAAGACTCAGATGGG GTTCCTGCTAGGCGTAAATATTTTGTGGAGCTAACCTGTGGGATAGGAGT ACTATCCCACAAGATGCGATTTGTTGTTTGAACTGATGACCATTATGTGG TATTCTCTTCCATTGGTTCAAATACCTGTTTTTGTGCTGGTACCATGCTG TTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACAGGGTCTGGCTCTGTC ACTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGAAACCTCTGCT TCCTGGGCTCAAGCCATCCTTCCACCTCAGCCTCCTGAGTAACTGGGACT ACAGGTGCATGCCATCATGGCTGGCTAATTTTGTGTGTGTTTTTTATAGA GATGGGGTTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	332	0.0030	1059	c.232 others(1078): Show c.2321-2098_2321-2097insTTCTTCACACGATGGCAGAAAGGAGA AGTGCAAGCAGGGGAAATGCCAGATGCTTATAAAACCATCAGATCTTGTG AGACTCACTATCATGAGAACAGCCTGGAGAAAACTGCCCCCATGATCCGG TTACCTCTACCCTTAGTCCCACCCTTGACATGTGGGGATTATAGGGTTAC AATTCAAGATGAGATTTTGGGTGGGAACACAGCCAAACAATATCCCTAAG ATGGAAAGAATAGAGATATTATGTATGGGCTAAATACCGTGGGCTTCTTC TCTACAGCCCACCTGGCTCAGGCCTCTGCTGTGTGCCTTGCTCTCCAGTA AGAGAGACCAATCGTGAGCCCTTAATATGGCACCATTCCCTGAGGGAATA TTCAGACATTTGGGTGGTGGTAGATTACATTGGACCCTTTCCTTTATGGA AGAGACAGCTTTTGTTCTCATTTATTCTGGATGTAGATTTACCTTCATTG TCTATAGCGCTTCACCATCGCCATCCTTGAACTTACTTACTGCCTTATTT ACCATCAGGTTATTATAGGTAGTATTGCATCTGATCAAGAAACTAATTTT TTTTGCAAATTGTGGCAGTGGGCTTATGCCCACAGAGTTTACTAATCTTT CCATGAACCTTATCAGTCTACATCAGACCTGAGAGAATGGTAGAATGACA TCTTTAAGACTCAGATGGGGTTCCTGCTAGGCGTAAATATTTTGTGGAGC TAACCTGTGGGATAGGAGTACTATCCCACAAGATGCGATTTGTTGTTTGA ACTGATGACCATTATGTGGTATTCTCTTCCATTGGTTCAAATACCTGTTT TTGTGCTGGTACCATGCTGTTTTTTGTTTGTTTGTTTGTTTGTTTTTTGA GACAGGGTCTGGCTCTGTCACTCAGGCTGGAGTGCAGTGGCATGATCTCA GCTCACTGAAACCTCTGCTTCCTGGGCTCAAGCCATCCTTCCACCTCAGC CTCCTGAGTAACTGGGACTACAGGTGCATGCCATCATGGCTGGCTAATTT TGTGTGTGTTTTTTATAGAGATGGGGTTTCACC		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB40B_chr17_82649973_82703698	82672045	C C	CCACCCCT others(1052): Show CCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTG ACACACCCCACCCCTGTAACTCTAACACACACACTCACACACTCCCTGTA CTGACACACCCCACCCCTGTAACTCTAACACACACACTCACATGCTCTCT GTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACACTCACAT GCTCTCTGAACTCACTGACACACCCCACCCCTGTAACTCTAACACACACA CACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAACACAC ACACTCACACGCTCCCTGTACCCACTGACACACCCCACCCCTGTAACTCT AACACACACACACGCTCCCTGTACTCACTGACACACCTCACCCCTGTAAC TCTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCCCACCC CGTAACTCTAACACACAAACTCACATGCTCTCTGTACTCACTGACACACC TAACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTCACTG ACACACCCCACCCCGTAACTCTAACACACAAACTCACATGCTCTCTGTAC TCACTGACACACCTAACCCCTGTAACTCTAACACACACACTCACACGCTC CCTGTACCCACTGACACACCCCACCCCTGTAACTCTAACACACACACACG CTCCCTGTACTCACTGACACACCTCACCCCTGTAACTCTAACACACACAC TCACACGCTCCCTGTACTCACTGACACACCCCACCCCGTAACTCTAACAC ACAAACTCACATGCTCTCTGTACTCACTGACACACCTAACCCCTGTAACT CTAACACACACACTCACACGCTCCCTGTACTCACTGACACACCTCACCCC TGTAACTCTAACACACACACTCACACACTCCCTGTACTGACACACCCCAC CCCTGTAACTCTAACACACACACTCACATGCTCTCTGTACTCACTGACAC ACCCCACCCCGTAACTCTAACACACACACTCACACGCTCCCTGTACCCAC TGACACAGCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02647.hp2 others(2): Show HG01255.hp1 HG01884.hp2 HG02647.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0001 a0001c0001t0002 a0001c0001t0042	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0320 a0001c0001t0042g0012	5	338	0.0148	1059	c.143 others(1076): Show c.143-7490_143-7489insAGCTGTGTCAGTGGGTACAGGGAGCGTG TGAGTGTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGTACAGAG AGCATGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTACA GGGAGTGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGT GAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTG TGTCAGTGAGTACAGAGAGCATGTGAGTTTGTGTGTTAGAGTTACGGGGT GGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTA CAGGGGTGAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAG TTACAGGGGTGGGGTGTGTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGT GTTAGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACAGAGAGCATGTGAG TTTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCG TGTGAGTGTGTGTGTTAGAGTTACAGGGGTTAGGTGTGTCAGTGAGTACA GAGAGCATGTGAGTTTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTG AGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGT GTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTACAGGGGTGGGG TGTGTCAGTGGGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGG GGTGAGGTGTGTCAGTGAGTACAGGGAGCGTGTGTGTGTGTTAGAGTTAC AGGGGTGGGGTGTGTCAGTGAGTTCAGAGAGCATGTGAGTGTGTGTGTTA GAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGAGAGCATGTGAGTGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTACAGGGAGTGTGTGAGT GTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCG TGTGAGTGTGTGTGTTAGAGTTACAGGGGTG		RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5						chr17	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1052): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATATAATTATATTATATAAATAT AATATAATTATATAATTATATTATATAAATATAATATAATTATATAATTA TATAATATAATTATATTATATAAATATAATAATATAATATAATTATATAA ATATAATAATATAATATAATTATATAAATATAATAATATAATATAATAAT ATAATATAATATAATTATATTTTTATATAATATAATTATATTATATAATT ATATAATATAATATAATTATATTATGTAATTATATAATATAATATAATTA TATTATATTATATAATTACATAATATAATATAATTATATTATATAATTAT ATAATATAATATAATATAATTATATTATATAATTATATAATAAATATAAT ATAATTATATTATATAATTATATTATAAATATAATATAATTATATTATAT AATTATATTATAAATATAATATAATTATATTATATAATTATATTATAAAT ATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATAT TATATAATTATATAATAAATATAATATAATTATATTATATAATTATATAA TAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATAATAATATAATATAATTATATTATATAATTAT ATAATAAATATAATATAATTATATTATATAATTATATAATAAATATAATA TAATTATATTATATAATATGATATAATATAATATAATATAATATAATATA ATTATATTATATAATTATATAATATAATATAATATAATTATATTATATGA TTATATATAATTACATAATATAATATAATATAATTATATTATATGATTAT ATATAATTAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	304	0.0066	1059	c.347 others(1074): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATAATTAT ATTATATAAATATAATATAATTATATAATTATATTATATAAATATAATAT AATTATATAATTATATAATATAATTATATTATATAAATATAATAATATAA TATAATTATATAAATATAATAATATAATATAATTATATAAATATAATAAT ATAATATAATAATATAATATAATATAATTATATTTTTATATAATATAATT ATATTATATAATTATATAATATAATATAATTATATTATGTAATTATATAA TATAATATAATTATATTATATTATATAATTACATAATATAATATAATTAT ATTATATAATTATATAATATAATATAATATAATTATATTATATAATTATA TAATAAATATAATATAATTATATTATATAATTATATTATAAATATAATAT AATTATATTATATAATTATATTATAAATATAATATAATTATATTATATAA TTATATTATAAATATAATATAATTATATTATATAATTATATAATAAATAT AATATAATTATATTATATAATTATATAATAAATATAATATAATTATATTA TATAATTATATAATAAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATAATAATATAATATAATTAT ATTATATAATTATATAATAAATATAATATAATTATATTATATAATTATAT AATAAATATAATATAATTATATTATATAATATGATATAATATAATATAAT ATAATATAATATAATTATATTATATAATTATATAATATAATATAATATAA TTATATTATATGATTATATATAATTACATAATATAATATAATATAATTAT ATTATATGATTATATATAATTACATATAT		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1052): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATGGAATATATATATATATGGAATATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATTCCATATATATATTCCATATATATATTC CATATATATATATTCCATATATATATTCCATATATATATTCCATATATAT ATTCCATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	324	0.0031	1059	c.115 others(1076): Show c.115-2706_115-2705insATATATATATATGGAATATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATATTCCATATATATATATATTCCATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(1052): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0053 a0002c0010t0002g0053	1	128	0.0078	1059	c.143 others(1080): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(1052): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCC CTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCC CCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCC TTGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACA TACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCT CCCTCCAGGGGACACATTCCCCCCCCCCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCTCAGGGCACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGG ACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0125 a0002c0003t0125	a0002c0003t0125g0231 a0002c0003t0125g0231	1	260	0.0039	1059	c.54 others(1070): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGG GCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCTTGGGGCACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATAC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCC TCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCT CGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCAGGGGACACATTCCCCCCCCCCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCAG GGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGA CACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACA CATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCC CCCTCCCTCCAGGGGACACATCCCC		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					323		chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113817317	T T	TCCTCCCC others(1052): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGAC ACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATA CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCTC CACGGGACACATCCCCCCTCCCTCCAGGGAACACATCCCCCCCTCCTCCA GGGGGCACATCCCCCCTCCCTCCACGGGGCACATCACCCCTCCCTCCAGG GGGCACATCCCTCCTCCCTCCAGGGCGCACATCCCCCCTCCCTCCAGGGG ACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0150 a0001c0001t0112g0150	1	260	0.0039	1059	c.54 others(1070): Show c.5414_*5415insCCTCCCCCCACGGGACACATCCCCCCTCCCCCCA CGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCTCGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCC CCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCCTCCCTCCTCGGGGCACATCCCCCCTC CCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTC CTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGG ACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCCTCCCTCCACGGGACA CATCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCTCCAGGGAACACA TCCCCCCCTCCTCCAGGGGGCACATCCCCCCTCCCTCCACGGGGCACATC ACCCCTCCCTCCAGGGGGCACATCCCTCCTCCCTCCAGGGCGCACATCCC CCCTCCCTCCAGGGGACACATCCCC		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding					323		chr13	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(1052): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCG GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTG CTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(1052): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCG GTGCACCCTGCTGTCGGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCC TGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCTGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTG TCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1052): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCGG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	394	0.0025	1059	c.129 others(1076): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTC		U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(1052): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCGGGGTTGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAATAAGGTGTTTCACTCTTGT TGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGA TCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCTTTCTCTTATCA TGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGTGGCTCACGCCT GTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0006 a0002c0009t0006	a0002c0009t0006g0055 a0002c0009t0006g0055	1	274	0.0037	1059	c.51 others(1070): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCTTATTGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCAACCCCGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCGGAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAGTGAAACACCATCTCAAAAACAACAACAA CAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTTTTTTTTCTTT GTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCACCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGGTTTCACTGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTG		VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding					2246		chr17	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(1052): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCCTCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC CTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC CTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	246	0.0041	1059	c.-10 others(1076): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCCTTT CCCCCTTCCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC		ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1						chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(1053): Show TTTATATATTTATATATTTATAGATAAATATATAAATATATAAATATATA TATATTTATAGATAAATATATAAATATATAAATATATATATATTTATAGA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATATA TATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGATA AACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTATATA TTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATAAA TATTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAGATA AACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATA TTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAA TATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATA AACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATA TTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAA TATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATA AACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATA TTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAA TATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATA AACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATA TTTATAGATAAACGTATAAGTATTTTTATATTTATAGATAAACGTATAAG TATTTTTATATTTATAGATATATAAATATATAAATATTTTTATATTTATA GATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTT TATATTTATAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0290 a0001c0015t0002g0290	1	306	0.0033	1060	c.130 others(1079): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATCTATAAATATAAAAAT ATTTATATATTTATATATCTATAAATATAAAAATACTTATACGTTTATCT ATAAATATAAAAATACTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAT AAATATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCT ATAAATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTAT ACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATAT AAATATTTATATATATATATTTATCTATAAATATATATATATATTTATAT ATTTATCTATAAATATATATATATTTATATATTTATCTATAAATATATAT ATATTTATATATTTATATATTTATCTATAAATATATATATATTTATATAT TTATATATTTATCTATAAATATATAAATATATAA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATATATTT others(1053): Show ATATATTTATAGATAAATATATAAATATATATATATATTTATAGATAAAT ATATATATATAAATATTTATATATTTATAGATAAACGTATAAATATTTAT ATATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTAT AAATATTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAG ATAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTAT ATATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAGTATTTTT ATATTTATAGATAAACGTATAAGTATTTTTATATTTATAGATATATAAAT ATATAAATATTTTTATATTTATAGATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT ATAAATATTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0005 a0001c0005t0017g0005	1	306	0.0033	1060	c.130 others(1079): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATA AAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATATATCTATAAATATAAAAATATTTATATATTTATATATCTATA AATATAAAAATACTTATACGTTTATCTATAAATATAAAAATACTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATACG TTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAAA TATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATA AATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATACG TTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATA TATATATATATTTATATATTTATCTATAAATATA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATATATTT others(1053): Show ATATATTTATAGATAAATATATAAATATATATATATATTTATAGATAAAT ATATATATATAAATATTTATATATTTATAGATAAACGTATAAATATTTAT ATATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTAT AAATATTTATATATTTATAGATAAACGTATAAATATTTATATATTTATAG ATAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTT ATATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTAT AAATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAG ATAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAGTATTTTT ATATTTATAGATAAACGTATAAGTATTTTTATATTTATAGATATATAAAT ATATAAATATTTTTATATTTATAGATATATAAATATATAAATATTTTTAT ATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAA ATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT ATAAATATTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0108 a0012c0029t0001g0108	1	306	0.0033	1060	c.130 others(1079): Show c.1308+1271_1308+1272insAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATA AAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATATATCTATAAATATAAAAATATTTATATATTTATATATCTATA AATATAAAAATACTTATACGTTTATCTATAAATATAAAAATACTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAA TATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATA AATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTATACG TTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATATAAA TATTTATACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATA AATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTATACG TTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATA TATATATATATTTATATATTTATCTATAAATATA		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(1053): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTC AGCCCACCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCCCCCCATCACCTCAGCCCACCCCCCCATCACCTCAGCCCACCCCCCCA TCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCC ACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCC CCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAG CCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0237 a0001c0001t0011g0238 a0001c0001t0003g0237 a0001c0001t0011g0238	2	337	0.0059	1060	c.61+ others(1075): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGGCTGAGGTGAT GGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGTGGGCTGAGGT GATGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGG GCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG GGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGT TGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTG GACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGA CTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGT GGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(1053): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACATTGTATATACTATATATATATTTTATGTATAGTATGTACATTGTATA TACTATATATATATTTTATGTATAGTATGTACTGTATATATTTTATACAT AGTATATACAGTGTATATACTATATATATTTTATACATAGTATATACAGT GTATATACTATATATTTTATACATAGTATATACAGTGTATATACTATATA TATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATAT AGTATATACACTGTATATACTATATATATTTTATATATAGTATATACACT GTATATACTATATATATTTTATATATAGTATATACACTGTATATACTATA TATATTTTATATATAGTATATACACTGTATATACTATATATATTTTATAT ATAGTATATACACTGTATATACTATATATATTTTATATATAGTATATACA CTGTATATACTATATATATTTTATATATAGTATATACACTGTATATACTA TATATATTTTATATATAGTATATACACTGTATATACTATATATATTTTAT ATATAGTATATACACTGTATATACTATATATATTTTATATATAGTATATA CACTGTATATACTATATATATTTTATATATAGTATATACACTGTATATAC TATATATATTTTATATATAGTATATACACTGTATATACTATATATATTTT ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTATATATATTTTATATATAGTATATACTGTATATAC TATATATATTTTATATATAGTATATATACTGTATATACTATATATATTTT ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0021 a0006c0016t0021	a0006c0016t0021g0029 a0006c0016t0021g0029	1	182	0.0055	1060	c.505 others(1079): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ACTATATATAAAATATATATAGTATATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTAT ATACTATATATAAAATATATATAGTATATACAGTGTATATACTATATATA AAATATATATAGTATATACAGTGTATATACTATATATAAAATATATATAG TATATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGT ATATACTATATATAAAATATATATAGTATATACAGTGTATATACTATATA TAAAATATATATAGTATATACAGTGTATATACTATATATAAAATATATAT AGTATATACAGTGTATATACTATATATAAAATATATATAGTATATACAGT GTATATACTATATATAAAATATATATAGTATATACAGTGTATATACTATA TATAAAATATATATAGTATATACAGTGTATATACTATATATAAAATATAT ATAGTATATACAGTGTATATACTATATATAAAATATATATAGTATATACA CTGTATATACTATGTATAAAATATATAGTATATACACTGTATATACTATG TATAAAATATATATAGTATATACACTGTATATACTATGTATAAAATATAT ACAGTACATACTATACATAAAATATATATATAGTATATACAATGTACATA CTATACATAAAATATATATATAGTATATACAATGTACATACTATACATAA AATATATATATAGTATATACAATGTACATACTATATATAAAATATATATA GTACATACTATATATAAAATATATATAGTACATACTATATATAAAATATA TATAGTACATACTATATATAAAATATATATAGTA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144687334	C C	CCCCGTGA others(1053): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCACACACTGGCGG CGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTA CAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCC CACCCCTGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	246	0.0041	1060	c.-17 others(1071): Show c.-1731_-1730insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGG GAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGG TGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCA CGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGAGAAGT GCTCGCTGTAAATGAGTGGTCACGGG		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1489		chr8	TogoVar
ATG10_chr5_81967023_82261133	82140160	T T	TGCCCGGC others(1053): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCC ACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCG CCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGCCGCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0001 a0005c0005t0010g0001	1	226	0.0044	1060	c.217 others(1079): Show c.217-24204_217-24203insAGGGTCAGCCCTCCACCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTTCTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG AGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGC ACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCC GGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1053): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAA GGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGA AGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAA GGGAAAAGGGAAGGGAAGGGAAAACGGAAGGGAAGGGAAAAGGGAAGGGA AGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGGG AAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACC GGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAGGACAGGAACC GGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGGAACCGGGATG GCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGAAACCGGGACG GCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGAGAACCGGGAA GGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAGAGAACAGGGA AGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGGGGAGGGGAGA CCGGGACGGGAACTGGGACGGAAGGGTAGGGAACCGGGCGGGAACCGGGA CGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGAACCAGGACAGG AACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAGGGACAGGAATC GGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAACCAGGAAAGGA AAGGAAGGCAAGCGGGACGGGAGCCGGGAAGGCAAGAGAAGGGAACCGGG AAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGAACCGGGAAGGG CAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCG GGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGCACAGGAAG GAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	326	0.0031	1060	c.327 others(1077): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCCT CTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCCT TCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCCC TTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTCC CTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATCG GTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTTCCCG TCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCC TTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTT CCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCT TCCCTTCCGTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTT TTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCT TCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTT TTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCC		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15						chr10	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1053): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGA GGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAGG GGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGGAG AGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAAATGGTATGG GAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGAGGGGAAAGGG TAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGAGGGGAG AGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGACGGTAGA GGAGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGG TAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTA GGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGG GAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAG GGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG GGGAGAGGGTAGGGGAGGGAAGGAGGAGAGAGGGTAGAGGAGGGAGGAGG GGAGAGGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGA GGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGG AGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAG AGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGA GGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGG GAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGGA GGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGG AGAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	278	0.0036	1060	c.328 others(1077): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCCT ACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCTCCTCTCCCTCCCTCCCT ACCCTCTCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTACCCTC TCCCCTCCTCTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTAC CCTCTCTCCTCCTTCCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCT CCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCC CTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTC CCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTT CCTCCCTCCCCTACCCTCTCCCCTCCTCCCTCCTCTACCGTCTCCCCTCC TTCCCTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTAC CTCCCCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTC CCTCTCTCCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTC CTTCCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTT TCCTCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTA CCCTCTCCCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCC ACCCTCTCCCCTCCCTCCCTCCCCTCACCATCTCCCCTGCCTCCCCTCAC CCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC		CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38						chr1	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TACACATA others(1053): Show TACACATATATGTGTGTATATACGTATATACACATGTGTATATATGTATA TACACATATATGTATATACACACATATATACACATATATGTATATACACA CATATATACACATATGTATATACACACATATACACACATATATGTACACA TATATGTGTATATACGTATATACACATATATGTATATGCACACATATACA CACATATATGTACACATATATATGTGTATATACGTATATACACATGTGTA TATACGTATATACACATATATGTATATACACACACATATACACACATATA TGTACACATATATATGTGTATATACGTATATACACATGTGTATATACGTA TATACACATATATGTATATATACACACATATATACACATATATGTACACA TATATATGTGTATATACATATATACACATATATGTACACATATATGTGTA TATACGTATATACACATGTGTATATACGTATATACACATATATGTATATA CACACATATATACACACACATATGTGTACATATATGTGTATATACGTATA TACACATATATATGTGTACATATATGTGTGTATATGTGTGTATATACATA TGTGTATATATGTGTGTATATACATATATGTGTATATACATATATACACA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATA TGTGTGTATATACATATATGTGTATATATGTGTGTATATACATATATGTG TATATACGTATATACACATGTGTATATACGTATATACACACATATATGTG TACATATATGTGTGTATATACGTGTGTATATACACATGTGTATATACGTA TATACACATATATGTGTACATATATGTGTGTATATGTGTGTATATACATA TATGTGTATATATGTGTGTATATACATATATGTGTATATACATATATACA CATGTGTATATACGTATATACACACATATATGTGTACATATGTGTGTATA TATGTGTGTATATACATATATGTGTATATACGTATATACACATGTGTATA TACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	1060	c.19 others(1071): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATACACACATATATACACACATATGTACACATAT ATGTGTGTATATACGTATATACACATGTGTATATATGTATATACACATAT ATGTATATACACACATATATACACATATATGTATATACACACATATACAC ACATATATGTACACATATATGTGTATATACGTATATACACATGTGTATAT ACACACGTATATACACACATATATGTACACATATATGTGTGTATATACGT ATATACACATGTGTATATACGTATATACACATATATGTATATACACACAT ATATACACATATATGTATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATGTGTATATATGTATATACACAT ATATGTATATACACACATATATACACATATGTATATACACACATATACAC ACATATATGTACACATATATATGTGTATATACGTATATACACATATATGT ACACATATGTGTGTGTATATATGTGTGTATATACATATATGTGTATATAC GTATATACACATGTGTATATACGTATATACACATATATGTGTACATATAT GTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATAT GTGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATAT ACGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACGTATATACACATGTGTATATACGTATAT ACACATATATATGTGTACATATATGTGTGTATATGTGTGCATATACATAT ATGTGTATATACGTATATACACATATATGTGTACATATATGTGTGTATAT GTGTGTATATACATATGTGTATATATGTGTGTATATACATATATGTGTAT ATATGTGTGTATATACATATATGTGTATATACATATATACACATGTGTAT ATACGTATATACACACATATATGTGT		CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding					1809		chrX	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1053): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGAGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGA GGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGA GGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA AGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGG AGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGG AGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0189 a0003c0189	a0003c0189t0001 a0003c0189t0001	a0003c0189t0001g0199 a0003c0189t0001g0199	1	252	0.0040	1060	c.118 others(1079): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
EIPR1_chr2_3183970_3382818	3315984	G G	GCCCCTAC others(1053): Show GCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATA CACACCCCCACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCAC CATCCCCATACACACCCCCACCACCACCATCACCACCATCCCCATCCACA CCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCACCACCAC CATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATC CCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCC CCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCA TCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCC ACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCA CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCATCACCACCATC CCCATCCACAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	250	0.0040	1060	c.259 others(1079): Show c.259+22032_259+22033insGTGTGGATGGGGATGGTGGTGATGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGGGGTGTGGATGGG GATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATG GTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG GTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTGGGGGTG TGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTG GTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGG ATGGGGATGGTGGTGATGGTGGTGGTGGGGGTGTGTATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGG GATGGTGGTGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ERICH1_chr8_659200_736224	659361	G G	GGTGTGCA others(1053): Show GGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTG TGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCA CTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGA CCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGAGCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGG GGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTG ACCATCGAGATCTCCAGGGTGCACTGAGCATCCTGGGGAGGGGGTGACCA TCGAGATCTCCAGGGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGA GATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATC TCCAGGGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCG GTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGT GCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCAC TGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAG CATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGACCATC CTGGGGAGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGG GTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGA CCATCGAGATCTCCAGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCAT CGAGATCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	378	0.0027	1060	c.52 others(1071): Show c.5241_*5242insTGGAGATCTCGATGGTCACCCCCTCCCCAGGATG CTCAGTGCACACTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCA GTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGC ACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACAC CGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGA GATCTCGATGGTCACCCCCCTCCCCAGGATGGTCAGTGCACACTGGAGAT CTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCG ATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGG TCACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCAC CCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCC TCCCCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCC CAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGG ATGCTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGC TCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAG TGCACACCGGAGATCTCGATGGTCACCCCCCTCCCCAGGATGGTCAGTGC ACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACCC TGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGA GATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGATC TCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACCCTGGAGATCTCGA TGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGT CACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACC CCCTCCCCAGGATGGTCAGTGCACAC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding					4838		chr8	TogoVar
EXOC6B_chr2_72170984_72831033	72543424	T T	TGAGATAT others(1053): Show TGAGATATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTT TTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCAC AGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCA GATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCCGC GGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTG ATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACA TCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTT TCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAG GCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCC CACCTTTCCCGCCTTTCTATTCCACAATGCCGCCATTGTCATCCTGGCCC GTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGCGGCTGGC CGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	104	0.0096	1060	c.915 others(1079): Show c.915+16028_915+16029insGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCTTC CGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCC CGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAA TGGCGGCATTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGA AATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTT TTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTG ATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTC CACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAAC AGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATC TCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCC TAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTC CACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAA GAATTATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAGAAAAAAA AAAAAAAAAAAAAAAAAAAAAATAATAATATCTC		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	8/21						chr2	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(1053): Show GGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCA GCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTG TGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGG CTGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGAG GGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTG GTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGCGGCAGCAG CGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGA TGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGATGGAGGCTG GGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGG GAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCG GCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGCAG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCGGTGTGGGTGGA GGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGC TGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	418	0.0024	1060	c.119 others(1079): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCATC CACACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACTGCTGCCACCAGCC TCCCCTCACCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCT CCACCCACACCGCTGCTGCCAGCCTCCCCTCACCCCAGCCTCCATCCACA CCGCTGCTGCCAGCCTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCA CCAGCCTCCCCTCACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCC TCCCCTACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCACC CCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCC ACCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCG CTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAG CCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCC CCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCC AGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGCCTCC CCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACC CACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGC CTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCA CAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCC ACCAGCCTCCTCTCACCCCAGCCTCCACCCACAC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1						chr12	TogoVar
HTRA3_chr4_8264754_8312098	8294616	C C	CCACCCAC others(1053): Show CCACCCACCCACCCACCCACCCACCTATCCGCCCATCCATTCACCCATCC ATCCATCCATCCATCCATCCATCCATCCATACATCTGTCCATCCATCCAT CCACCCACCCACCTATCCACCCATCCATTCACCCATCCATTCATCCATCC GTCCATCCATCCAACCATCCAACCATCCCACAACACCCACCACCCACCCA TCCAACTAACCACCACCCATCCACCCACACACATCCATCCATCCATCACC CACCCACCCATCCACCCACCAATCCAACCATCAACCATCACCCACCCACA CCATCCATCCACCCACCATCCAACACCATCCATCCCACCCACCCATCAAC ATCCACCACCCATCCACCACCACCATCCACTCACCCACCCCAACCACCCA ACCACCCACCCTCCACCCCACCCATCCATCCCAACCATCCATCCATCCAC AACACCCACACCATCCTCCATCCACCCAACCATCCAACACCTCCACCCAC CCACCACACCACCATCCTACCATCCATCCACCATCCATCCACCCACACCT TTCTATCCATCCATCCACCCACCCCCACCCATCTTTCCACCCACCCATAT ACCATCCATCCATCCATCCATCCATCCATCCACTTATCCACCCATCCACC CACCCATCTATCCATCCATTCACCCATCCATTCACTCATTCATCCATCCA TCCATCTGCCCACCCAGCCACCCATCCATCCACCCACCCACCCATCCACC CACACACCCATCCATCCACCCACCCATTTACCATCCATCCATCCATCCAT CCACTTATCCACCCATCCACCCACCCATCCATCTATCCATCCATTGACCC ATCCATTCACTCATTCATCCGTCCATACATCCGCCCACCCAGCCACCCAT CCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATCC ACCCACACACCCATCCATCCACCCACCTATCCATCCATCTATCCATTCAC CCACCCACCCATCCATCCATCCATCCACCCATCCATCCAATCATCCATTC ATCCATCCACT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	388	0.0026	1060	c.105 others(1077): Show c.1051+417_1051+418insCCCACCCACCCACCCACCCACCTATCCG CCCATCCATTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATA CATCTGTCCATCCATCCATCCACCCACCCACCTATCCACCCATCCATTCA CCCATCCATTCATCCATCCGTCCATCCATCCAACCATCCAACCATCCCAC AACACCCACCACCCACCCATCCAACTAACCACCACCCATCCACCCACACA CATCCATCCATCCATCACCCACCCACCCATCCACCCACCAATCCAACCAT CAACCATCACCCACCCACACCATCCATCCACCCACCATCCAACACCATCC ATCCCACCCACCCATCAACATCCACCACCCATCCACCACCACCATCCACT CACCCACCCCAACCACCCAACCACCCACCCTCCACCCCACCCATCCATCC CAACCATCCATCCATCCACAACACCCACACCATCCTCCATCCACCCAACC ATCCAACACCTCCACCCACCCACCACACCACCATCCTACCATCCATCCAC CATCCATCCACCCACACCTTTCTATCCATCCATCCACCCACCCCCACCCA TCTTTCCACCCACCCATATACCATCCATCCATCCATCCATCCATCCATCC ACTTATCCACCCATCCACCCACCCATCTATCCATCCATTCACCCATCCAT TCACTCATTCATCCATCCATCCATCTGCCCACCCAGCCACCCATCCATCC ACCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCCATTTAC CATCCATCCATCCATCCATCCACTTATCCACCCATCCACCCACCCATCCA TCTATCCATCCATTGACCCATCCATTCACTCATTCATCCGTCCATACATC CGCCCACCCAGCCACCCATCCATCCACCCACCCATCCACCCACACACCCA TCCATCCACCCACCCATCCACCCACACACCCATCCATCCACCCACCTATC CATCCATCTATCCATTCACCCACCCACCCATCCATCCATCCATCCACCCA TCCATCCAATCATCCATTCATCCATCCACTCA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
NUDT4_chr12_93372925_93413146	93412350	A A	ATTTTTTT others(1053): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTTTTTTTTTATTTTTTTTTATTTCTTTTTTTTATTTTTTTTTTTTTTT TTTATTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTT TTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTAT TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGTTTTTTTTTTTTTTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTAATT TTTTTTTTTTTTTGTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTATTTTTTTTT TATTTTTTTTTTTTTTTTTTTTTTTTTTTCATTTTTTTTTTTTTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0221 a0001c0001t0221	a0001c0001t0221g0227 a0001c0001t0221g0227	1	414	0.0024	1060	c.12 others(1073): Show c.12971_*12972insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTAATTTTATTTTTTTTTTTTTTTTTTTT TTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTATTTTTTTTTTATTTTTTTTTATTTCTTTTTTT TATTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTATTTTTTTT TTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTATTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTATTTTTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT TTTTTTTTTTTTTAATTTTTTTTTTTTTTTGTTTTTTTTTATTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTT TTTTTTTATTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTCATT TTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTT		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding					4205		chr12	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1053): Show TGGCAATTAACATTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTCACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCC CACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTC TTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAA TTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTT GCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTC TTTTGTTGCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	388	0.0026	1060	c.949 others(1075): Show c.949-809_949-808insTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTCACATATGTATACATGTGC CATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATC TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTG ATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTT TTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCG CCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGT TCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAA AATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTT TTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTG TCTTTTGTTGCCAGGCAATTAACATTTTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30					INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193636369	T T	TGGCAATT others(1053): Show TGGCAATTAACATTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCC CACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTC TTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAA TTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTT GCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTC TTTTGTTGCCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00733.hp2 others(51): Show HG00544.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 NA18940.hp1 NA18953.hp2 NA18956.hp1 NA18972.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18995.hp2 NA18999.hp2 NA19043.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0009 a0002c0002 a0002c0007 a0002c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0024 a0002c0007t0001 a0002c0009t0001	a0002c0002t0001g0003 a0002c0002t0001g0136 a0002c0002t0001g0175 others(50): Show a0002c0002t0001g0003 a0002c0002t0001g0136 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0221 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0378 a0002c0002t0002g0231 a0002c0002t0006g0238 a0002c0002t0011g0139 a0002c0002t0011g0140 a0002c0002t0011g0144 a0002c0002t0011g0145 a0002c0002t0014g0189 a0002c0002t0014g0196 a0002c0002t0017g0185 a0002c0002t0018g0180 a0002c0002t0024g0143 a0002c0007t0001g0195 a0002c0007t0001g0203 a0002c0007t0001g0205 a0002c0007t0001g0243 a0002c0009t0001g0364	54	388	0.1392	1060	c.949 others(1075): Show c.949-809_949-808insTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGC CATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATC TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTG ATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTT TTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCG CCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGT TCTTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAA AATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTT TTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTG TCTTTTGTTGCCAGGCAATTAACATTTTTT		OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	9/30					INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)