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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(569): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18999.hp2 HG00558.hp1 NA18999.hp2	a0001 a0107 a0001 a0107	a0001c0001 a0107c0093 a0001c0001 a0107c0093	a0001c0001t0001 a0107c0093t0002 a0001c0001t0001 a0107c0093t0002	a0001c0001t0001g0196 a0107c0093t0002g0197 a0001c0001t0001g0196 a0107c0093t0002g0197	2	268	0.0075	576	c.292 others(591): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PASK_chr2_241101099_241154472	241116001	C C	CGGTCCCC others(569): Show CGGTCCCCAAGCATCCCATTACGCCAGGGACACCCGGTCCTCAAGCATCC CATTACACCAGGGGCCACCAGTCCTCAAGCATCCCATTACACCAGGGGCC ACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCGGTCCCCAAGCATC CCATTACACCAGGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGG CCACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAG CATCCCATTACACCAGGGCCACCCGGTCCTCAAGCATCCCATTACACCAG GGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCA AGCATCCCATTACACCAGGGACACCCGGTCCTCAAGCATCCCATTACACC AGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGGACACCCGGTCCC CAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACA CCAGGGACACCCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTC CCCAAGCATCCCATTACACCAGGGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02647.hp1 others(2): Show HG02257.hp2 HG02280.hp1 HG02647.hp1 HG03041.hp2 HG06807.hp2	a0001 a0012 a0001 a0012	a0001c0039 a0001c0040 a0001c0060 others(1): Show a0001c0039 a0001c0040 a0001c0060 a0012c0035	a0001c0039t0001 a0001c0040t0001 a0001c0060t0002 others(1): Show a0001c0039t0001 a0001c0040t0001 a0001c0060t0002 a0012c0035t0002	a0001c0039t0001g0322 a0001c0040t0001g0323 a0001c0060t0002g0292 others(2): Show a0001c0039t0001g0322 a0001c0040t0001g0323 a0001c0060t0002g0292 a0012c0035t0002g0240 a0012c0035t0002g0241	5	376	0.0133	576	c.307 others(593): Show c.3073-589_3073-588insTGGCCCTGGTGTAATGGGATGCTTGGGG ACCGGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTGGT GTAATGGGATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGG GGACCGGGTGTCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTG GTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGTGTAATGGGATGCTT GGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCC TGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGATGC TTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGC CCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAATGGG ATGCTTGGGGACCGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGTG GCCCCTGGTGTAATGGGATGCTTGAGGACTGGTGGCCCCTGGTGTAATGG GATGCTTGAGGACCGGGTGTCCCTGGCGTAATGGGATGCTTGGGGACC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PCNT_chr21_46319156_46450769	46399238	C C	CTGGGTCT others(569): Show CTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTTGGTCTCCCCGTGCA GCCTGTGGGTCTGGGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTG CAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCC TGTGCAGCCTCTGGGTCTGGGTCTCTGTGCAGCCTGTAGGTCTACGTCTC CGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTC TCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTG GGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGAGTC TGGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGG TCTAGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCTGTGCAGCCTGTGGG TCTAGGTCTCCCTGTGCAGCCTGTGGCTCTAGGTCTCTCTCTGCAGCCTG TGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTGGGTCTCTGTGCAGCCTG TGGGTCTAGGTCTCCCTGTGCAGCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp1 HG01981.hp2 others(8): Show HG00099.hp1 HG01361.hp1 HG01981.hp2 HG02683.hp2 HG02735.hp1 HG02896.hp2 HG03239.hp2 HG03540.hp1 HG03688.hp2 HG04184.hp1 NA19030.hp1	a0008 a0019 a0049 others(1): Show a0008 a0019 a0049 a0059	a0008c0007 a0019c0028 a0049c0046 others(1): Show a0008c0007 a0019c0028 a0049c0046 a0059c0052	a0008c0007t0001 a0019c0028t0001 a0049c0046t0001 others(1): Show a0008c0007t0001 a0019c0028t0001 a0049c0046t0001 a0059c0052t0001	a0008c0007t0001g0003 a0008c0007t0001g0004 a0008c0007t0001g0005 others(8): Show a0008c0007t0001g0003 a0008c0007t0001g0004 a0008c0007t0001g0005 a0008c0007t0001g0007 a0008c0007t0001g0008 a0008c0007t0001g0009 a0008c0007t0001g0010 a0019c0028t0001g0327 a0019c0028t0001g0328 a0049c0046t0001g0006 a0059c0052t0001g0034	11	332	0.0331	576	c.458 others(593): Show c.4585-318_4585-317insTGGTCTCCCCGTGCAGCCTGTGGGTCTG GGTCTCTGTTCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTC TAGGTCTCCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTCTG GGTCTGGGTCTCTGTGCAGCCTGTAGGTCTACGTCTCCGTGCAGCCTGTG GGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTCTCCCTGTGCAGCC TGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCTGGGTCTCTGTTCAG CCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGAGTCTGGGTCTCCCTGT GCAGCCTGTGAGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCTGT GCAGCCTGTGGGTCTAGGTCTCTGTGCAGCCTGTGGGTCTAGGTCTCCCT GTGCAGCCTGTGGCTCTAGGTCTCTCTCTGCAGCCTGTGAGTCTGGGTCT CTGTGCAGCCTGTGGGTCTGGGTCTCTGTGCAGCCTGTGGGTCTAGGTCT CCCTGTGCAGCCTGTGGGTCTAGGTCTCCCTGTGCAGCCTGTGGGTCT	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	24/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311962	C C	CCCCTCAC others(569): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0005 a0005	a0005c0070 a0005c0070	a0005c0070t0001 a0005c0070t0001	a0005c0070t0001g0328 a0005c0070t0001g0328	1	336	0.0030	576	c.269 others(595): Show c.2699+1413_2699+1414insTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(569): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18984.hp1 NA18939.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0001t0001g0179 a0001c0001t0001g0200	2	360	0.0056	576	c.35 others(587): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCT GCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCG CCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCC ACGCCCCCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PLCB4_chr20_9064087_9485808	9188499	T T	TTGTTCAT others(569): Show TTGTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACT GTTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAAGTGT TCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTC ACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCAT TGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATTG TGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTG GAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGA GGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGG GCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGC TGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCGTTGTGGAGGGCTG TCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGTC ATATAGTGACATTCTGGGTTGGTTAAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	140	0.0071	576	c.-78 others(595): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCGTTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCA TATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(569): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAACTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGT TAAGTGTTCGTTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTA ACTGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	140	0.0071	576	c.-78 others(595): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCGTTGTGGAGGGCTGT CATATAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCA TACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATA	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(569): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAAGGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAA AGAAGAAGGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAG AAGAAGAAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAG AAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAA GAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGA AGGAAGAAGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGAAGA AGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0001 a0018c0030t0001	a0018c0030t0001g0156 a0018c0030t0001g0156	1	188	0.0053	576	c.147 others(595): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCT CTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTT CTTCTTTCTTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCT TCTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCT TCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTC TTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTC TTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTC TTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTC TTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTC TTCCTTCTCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(569): Show AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAG CGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAG GGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGG TCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTT AGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGG TGGTAGTTGGGGTCACGGCTATAGTTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0282 a0002c0008t0001g0282	1	286	0.0035	576	c.335 others(595): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTT AGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720015	G G	GAGAGAGA others(569): Show GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGGGAGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGA TGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGG GATGCAGAGAGAGAGGGAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGA GGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGG GAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGA GGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGG GAGGGAGGGATGTAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGA GAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGA GAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAGGGATGTA GAGAGAGAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	322	0.0031	576	c.200 others(595): Show c.200+24240_200+24241insGCATCCCTCCCTCCCTCTCTCTCTCT CTACATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCT CTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCT CCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCC CTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCATCC CTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTCTACATCCCTCCCTCCCTCTCTCTCTGC ATCCCTCCCTCCCTCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCT CTCTGCATCCCTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCT CTCTCTGCATCCCTCCCTCCCTCTCTCTGCATCCCTCCCTCCCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	504502	T T	TTCCTGTA others(569): Show TTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCT TGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACC CCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTC CTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0014g0142 a0001c0001t0014g0143	2	295	0.0068	576	c.139 others(595): Show c.1396-1013_1396-1012insACCTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTG TGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCAC CTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(569): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAATGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGCGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAG TGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGG TGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGG GGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGT GAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0118 a0014c0118	a0014c0118t0057 a0014c0118t0057	a0014c0118t0057g0167 a0014c0118t0057g0167	1	292	0.0034	576	c.261 others(593): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAAT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTG AGTGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGG GGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGG TGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	315685	C C	CCCCACCT others(569): Show CCCCACCTCCATTGACCTGTAGTCTCTGTGCTCCACCTCCATTGACCTGT AGTCCCTGTGCCCCACCTCCACTGACCTGTTGTCTCTGTGCTCCACCTCC ATTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGTAGTCCCTGTG CTCCACCTCCACTGACCTGTAGTCACTGTGCACCCACCTCCATTGACCTG CAGTCTCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTC CACTGACCTGTTGTCTCTGTGCTACACCTCCACTGAACTGTTGTCTCTGT GCTACACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTG TAGTTCCTGTGCTCCACCTCCACTGACCTGTAGTCTCTGTGCTCCACCTC CACTGACCTGCAGTCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTGT GACCCCACCTTGATTGACCTGTAGTCCCTGTGCCCCCACCTCCACTGACC TGTAGTCTCTGTGTCCCCACCTCTACTGACCTGTAGTCTCTGTGCTCCCA CCTCCATTGACCTGTAGTCTCTGTGCT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	133	0.0075	576	c.351 others(593): Show c.351+3734_351+3735insAGCACAGAGACTACAGGTCAATGGAGGT GGGAGCACAGAGACTACAGGTCAGTAGAGGTGGGGACACAGAGACTACAG GTCAGTGGAGGTGGGGGCACAGGGACTACAGGTCAATCAAGGTGGGGTCA CAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAGGTCAGTGG AGGTGGAGCACAGAGACTACAGGTCAGTGGAGGTGGAGCACAGGAACTAC AGGTCAGTGGAGGTGGGGCACAGGGACTACAGGTCAGTGGAGGTGTAGCA CAGAGACAACAGTTCAGTGGAGGTGTAGCACAGAGACAACAGGTCAGTGG AGGTGGGGCACAGGGACTACAGGTCAGTGGAGGTGGAGCACAGAGACTGC AGGTCAATGGAGGTGGGTGCACAGTGACTACAGGTCAGTGGAGGTGGAGC ACAGGGACTACAGGTCAGTGGAGGTGGGGCACAGGGACTACAGGTCAATG GAGGTGGAGCACAGAGACAACAGGTCAGTGGAGGTGGGGCACAGGGACTA CAGGTCAATGGAGGTGGAGCACAGAGACTACAGGTCAATGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744451	T T	TCCTGGTT others(569): Show TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0010 a0001c0035t0010	a0001c0035t0010g0063 a0001c0035t0010g0063	1	196	0.0051	576	c.655 others(593): Show c.655-9536_655-9535insCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(569): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	232	0.0043	576	c.43 others(587): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTACGTATTTATACATATATGTATAAATATGTA CGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTATGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATACATATA TGTATAAATATGTATGTATTTATACATATATGTATTAATACGTATTTATA CATATATGTATTAATACGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(569): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACGTACATATTTATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0159	1	232	0.0043	576	c.43 others(587): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTACGTATTTATACATATATGTATAAATATGTA CGTATTTATACATATATATGTATAAATATGTACGTATTTATACATATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATACATATA TGTATAAATATGTATGTATTTATACATATATGTATTAATACGTATTTATA CATATATGTATTAATACGTATTTATACATATATGTATAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCGTGTCT others(569): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	576	c.166 others(593): Show c.1662+513_1662+514insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356680	T T	TCCCCCTC others(569): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0076 a0001c0001t0019g0076	1	150	0.0067	576	c.77- others(593): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCT CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356680	T T	TCCCCCTC others(569): Show TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTTTCCCTTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	158	0.0063	576	c.22+ others(593): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCT CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31432156	C C	CAGGGTGG others(569): Show CAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGTTAGGGTGGTT AGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG AGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	376	0.0027	576	c.101 others(593): Show c.1014-803_1014-802insCAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGT GGTTAGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG TTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIK3_chr11_116838402_117103428	116947134	A A	AAATTATT others(569): Show AAATTATTATTTATATATAATATATAATATATGAATTATTATTTATATAT AATATATAATATATGAATTATTATTTATATATAATATATAATATATGAAT TATTATTTATATATAATATATAATATATGAATTATTATTTATATATAATA TATAATATATGAATTATTATTTATATATAATATATAATATATGAATTATT ATTTATATATAATATATAATATATGAATTATTATTTATATATAATATATA ATATATGAATTATTATTTATATATAATATATAATATATGAATTATTATTT ATATATAATATATAATATATGAATTATTATTTATATATAATATATAATAT ATGAATTATTATTTATATATAATATATAATATATGAATTATTATTTATAT ATAATATATAATATATGAATTATTATTTATATATAATATATAATATATGA ATTATTATTTATATATAATATATAATATATGAATTATTATTTATATATAA TATATAATATATGAATTATTATTTATATATAATATATAATATATGAATTA TTATTTATATATAATATATAATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01257.hp1 HG00280.hp1 HG01257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0160 a0002c0004t0006g0161 a0002c0004t0006g0160 a0002c0004t0006g0161	2	366	0.0055	576	c.454 others(593): Show c.454+6909_454+6910insCATATATTATATATTATATATAAATAAT AATTCATATATTATATATTATATATAAATAATAATTCATATATTATATAT TATATATAAATAATAATTCATATATTATATATTATATATAAATAATAATT CATATATTATATATTATATATAAATAATAATTCATATATTATATATTATA TATAAATAATAATTCATATATTATATATTATATATAAATAATAATTCATA TATTATATATTATATATAAATAATAATTCATATATTATATATTATATATA AATAATAATTCATATATTATATATTATATATAAATAATAATTCATATATT ATATATTATATATAAATAATAATTCATATATTATATATTATATATAAATA ATAATTCATATATTATATATTATATATAAATAATAATTCATATATTATAT ATTATATATAAATAATAATTCATATATTATATATTATATATAAATAATAA TTCATATATTATATATTATATATAAATAATAATTCATATATTATATATTA TATATAAATAATAATTCATATATTATATATTATATATAAATAATAATT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(569): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGCG GGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCA GCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGA AAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAA ATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATAT GATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAG TGGGGGAAATAATTCAGCATATGATAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	164	0.0061	576	c.203 others(593): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC GCTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTAT CATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTA TTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTT TTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATG CTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCC CCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SMYD3_chr1_245744347_246512279	245975393	G G	GGCCTAGG others(569): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATTGTCTCTAGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	150	0.0067	576	c.532 others(595): Show c.532-45457_532-45456insTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTAGGCCGGAGA CGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCTAGAGACG ATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGCCGGAGACGAT GGCTTTCCCTGGGCTGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGG CTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCT TTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTT CCCTGGGCTAGAGACAATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCC CTGGGCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT AGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(569): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	322	0.0031	576	c.909 others(591): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPPL2B_chr19_2323684_2360095	2349311	A A	ACTCACGC others(569): Show ACTCACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCTCCACACACACT CACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCTCCACACACACTCAC GCGCTCTCATTCGCCTGATTCCGTTCTCTCTCCACACACACGCACTCTTA TTCGCCTGATTCCGTTCTCTCTCTCTCCACACACTCACGCACTCTTATTC GCCTGATTCCGTTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCT TGATTCCGTTCTCTCCCTCCACACAACACTCGCGTTCTCATTCGCGTGAT TCCGTTCTCTCCACACACACTCACGCGCTCTCATTCGCTCGATTCCGTTC TCTCTCCACACGCGCTCTCATTCGCTCGATTCCGTTCTCTCCACACACAC TCACGCGCTGTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACG CTCTCATTCGCTTGATTCTGTTCTCTCCCTCCACACACACTCACGTTCTC ATTCATGTGATTCCGTTCTCTCTCCACACACACTCACGCGCTCTCATTCG CTTGATTCCGTTCTCTCCACACACACT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	414	0.0024	576	c.135 others(595): Show c.1355-2122_1355-2121insTCACGCTCTCATTCGCTTGATTCCGT TCTCTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTCT CTCTCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGTTCTC TCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCTCC ACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCCACACA CACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACAACA CTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCCACACACACTCACGCGC TCTCATTCGCTCGATTCCGTTCTCTCTCCACACGCGCTCTCATTCGCTCG ATTCCGTTCTCTCCACACACACTCACGCGCTGTCATTCGCTTGATTCCGT TCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCTGTTCTCTCC CTCCACACACACTCACGTTCTCATTCATGTGATTCCGTTCTCTCTCCACA CACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCACACACACTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(569): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGAGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGG GGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0277 a0001c0001t0006g0277	1	322	0.0031	576	c.597 others(593): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCTCCCCCCTCCCTCCTTCCTT TCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCT CCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCCC others(569): Show GCCCCCCCCCCCCGCCCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCTC CCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGT GGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGCCCCC CCCCCCGCCCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCTCCCCACCA TCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTT CGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCCCCCCCG CCCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCC GGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCC ACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACC ATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTC TCCCCACCATCTCCATGGGCCTTCGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0174 a0001c0022t0001g0174	1	418	0.0024	576	c.198 others(593): Show c.1980+655_1980+656insCCGCCCCCCGTCCCACCGGGCCTTCGCC CCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCC ACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCATGGG CCTTCGCCCCCCCCCCCGCCCCCCGTCCCACCGGGCCTTCGCCCCCACTG TCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCT CCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGC CCCCCCCCCCGCCCCCCGTCCCACCGGGCCTTCGCCCCCACTGTCTCCCC ACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCGTGGG CCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACT GTCTCCCCACCATCTCCCCGGGCCTTCGCCCCCACTGTCTCCCCACCATC TCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCCCGGGCCTTCG CCCCCACTGTCTCCCCACCATCTCCATGGGCCTTCGCCCCCCCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(569): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCCCACATCCATCCTATCTACT CACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCA CCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCAT CCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCA TCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATC ATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATC ATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCAT CCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTA CCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTA CCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0194 a0001c0001t0004g0027 a0001c0001t0002g0194 a0001c0001t0004g0027	2	258	0.0078	576	c.113 others(595): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCC CCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCAC CCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTAT CCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATC CTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCA CCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACAC CCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCAC TATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTC ACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCC ATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82848817	T T	TCTGCTGC others(569): Show TCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTC TCCACCTCGATGTCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTG TGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCT CGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCT CTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATG TCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGC TGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCAC CTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCT CTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCTCTGCCTGCTGTG TCTTCTCACCTCGATGTCCCCCTCTGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0231 a0002c0003t0003g0231	1	318	0.0031	576	c.131 others(597): Show c.1319-21341_1319-21340insTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATG TCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCT GCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCC ACCTCGATGTCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCC TCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGT CTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCGA TGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCTCTG CCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCT CCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(569): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACTCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	270	0.0037	576	c.451 others(593): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACTCCCTCACCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF25_chr16_89868592_89916379	89902358	C C	CGAGGGGC others(569): Show CGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGAGCCTCC TCTGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCT CCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCC GAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACAC GGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTG GCCGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC ATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCAC TCCAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAA AAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATC CCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAA TCCCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGA AATCCCTCCTTAAGACGAGCCTCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG02257.hp1 others(2): Show HG00099.hp2 HG00639.hp1 HG02257.hp1 HG02647.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0264 a0002c0003t0001g0285 a0002c0003t0001g0287 others(2): Show a0001c0001t0001g0264 a0002c0003t0001g0285 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289	5	300	0.0167	576	c.138 others(595): Show c.1381+1606_1381+1607insAGCCTCCTCTGAGGGGCTGTGAGGGG TGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCACGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGTTGGCCGGCACCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAG CTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACATAG TGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAAAAGACGGGCCTCCT CCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTC CTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGATGGGCC TCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGAG CCTCCTCTGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACG	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TDRD12_chr19_32714767_32834580	32729778	C C	CTTTTTTT others(569): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTCTTGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC ACCACCCGGTTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGTATCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAG AGACGGAGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCC ACCGTGCCTGGCCTAAATTTTTATTTTTCATTTATGAAATTTACGTTTTC CACAGCTTGTGTGTGTGTATCTATATCTATACATGTATAAATAGATACAT ATCTATATACATATAGAGTTTCCATTTCTTAAGTGAGATTCTTTTGTTTT CAACTCACTCTAACCATCTCATCTTTAAGTTCTGTATTTATAATAGCTGT TTTTAAGTCCTCGCCTGTTAATTCCAATATCTGGGTATCTTGGGTTCACT TTCTGGTGACTACTTTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0015 a0003c0002t0015	a0003c0002t0015g0014 a0003c0002t0015g0014	1	380	0.0026	576	c.25- others(591): Show c.25-1919_25-1918insTGTGAGATGGAGTCTTGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCACCCGG TTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGT ATCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGAGT TTCATCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCT GGCCTAAATTTTTATTTTTCATTTATGAAATTTACGTTTTCCACAGCTTG TGTGTGTGTATCTATATCTATACATGTATAAATAGATACATATCTATATA CATATAGAGTTTCCATTTCTTAAGTGAGATTCTTTTGTTTTCAACTCACT CTAACCATCTCATCTTTAAGTTCTGTATTTATAATAGCTGTTTTTAAGTC CTCGCCTGTTAATTCCAATATCTGGGTATCTTGGGTTCACTTTCTGGTGA CTACTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr19	TogoVar
THEG_chr19_356747_381026	360248	C C	CTTTGACT others(569): Show CTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGCTTTGACCGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTGTCGTTCT GACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCAT CAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCC CTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGGTTTGACTGTGGCTGT CGTTCCGACTCTGACAGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGT TTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAA GAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCG TGGGCTCTCAGGAGGAGCGTCGGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	370	0.0027	576	c.19 others(587): Show c.1951_*1952insCCAGCCGACGCTCCTCCTGAGAGCCCACGGGACC GTCAGAGTCGGAACGACAGCCACAGTCAAACCAGCCGATGCTCTTGCTGA GGGGCCACGGGACCGTCGGAGTAGGAACGACAGCCACAGTCAAACCAGCC GACGCTCCTCCTGAGGGCCCACGGGACTGTCAGAGTCGGAACGACAGCCA CAGTCAAACCAGCTGATGCTCCTCCTGAGGGCCCACGGGACCGTCGGAGT CGGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTCCTGAGGGCCCAC GGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCTGATGCTCC TCCTGAGGGCCCACGGGACCGTCAGAGTCGGAACGACAGCCACAGTCAAA CCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCATCAGAGTCAGAACGA CAGCCACGGTCAAACCAGCCGACGCTCCTGCTGAGAGCCCACGGGACCGT CGGAGTCGGAACGACAGCCACGGTCAAAGCAGCCGACGCTCCTGCTGAGG GGCCACGGGACCGTCGGAGTAGGAACGACAGCCACAGTCAAA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1498		chr19	TogoVar
THEG_chr19_356747_381026	360355	T T	TCTCAGCA others(569): Show TCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCG ACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTG TCATTCTGACTCTGATGGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGG TTTGACTGTGGCTGTCATTCCGACTCCGACGGTCCCGTGGGCTCTCAGCA GGAGCATCAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGATGGTCCC GTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCG ACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTG TGGCTGTCATTCTGACTCTGATGGTCCCGTGGGCTCTCAGCAGGAGCGTC GGCTGGTTTGACTGTGGCTGTCATTCCGACTCCGACGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTC GTTCCGACTCCGACGGTCCCGTGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0046 a0001c0001t0013g0046	1	370	0.0027	576	c.18 others(587): Show c.1844_*1845insGGGCCACGGGACCGTCGGAGTCGGAACGACAGCC ACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCGTCGGAG TCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCA CGGGACCGTCGGAGTCGGAATGACAGCCACAGTCAAACCAGCCGACGCTC CTGCTGAGAGCCCACGGGACCATCAGAGTCAGAATGACAGCCACAGTCAA ACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACG ACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCA TCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCTGATGCTCCTGCTGAG AGCCCACGGGACCGTCGGAGTCGGAATGACAGCCACAGTCAAACCAGCCG ACGCTCCTGCTGAGAGCCCACGGGACCATCAGAGTCAGAATGACAGCCAC AGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTC GGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1391		chr19	TogoVar
THEG_chr19_356747_381026	377345	G G	GCCCCACC others(569): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	370	0.0027	576	c.-13 others(587): Show c.-1376_-1375insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1320		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(569): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	256	0.0039	576	c.924 others(593): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(569): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0003 a0013c0022t0003	a0013c0022t0003g0163 a0013c0022t0003g0163	1	256	0.0039	576	c.924 others(593): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(569): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp1 HG01256.hp2 others(6): Show HG01074.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG02698.hp2 HG06807.hp1 NA18612.hp1 NA18988.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0002t0043	a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0224 others(6): Show a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0002g0183 a0001c0002t0004g0156 a0001c0002t0004g0159 a0001c0002t0004g0161 a0001c0002t0004g0170 a0001c0002t0043g0256	9	256	0.0352	576	c.924 others(593): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCTGGGGT others(569): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0181 a0001c0001t0075g0181	1	314	0.0032	576	c.189 others(591): Show c.189-376_189-375insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134609029	G G	GGAGGACA others(569): Show GGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACGGACCCCGAGAACTGTGCTGGTG AAAAGGAGGACAGACCCCGAGAACTTTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACT GGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTACTGGTGAAAAGGAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	222	0.0045	576	c.323 others(595): Show c.323-56939_323-56938insATCCTTTTCACCAGTACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCAC CAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTC TGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGC ACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTC CTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTC TCGGGGTCTGTCCTTTTCACCAGCAAAGTTCTCGGGGTCTGTCCTCCTTT TCACCAGCACAGTTCTCGGGGTCCGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTC TGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACA GTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTC	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM255B_chr13_113754226_113821995	113817352	C C	CGGGACAC others(569): Show CGGGACACATACCCCCTCCCCCTACGGGACACATCCCTCCTCCCCCCACG GGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACAC ATCCCTCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT CCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCC CCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCC CCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CAGGGGACACATCCCCCCTCCCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0078 a0006c0015t0078	a0006c0015t0078g0023 a0006c0015t0078g0023	1	260	0.0039	576	c.54 others(587): Show c.5449_*5450insGGGACACATACCCCCTCCCCCTACGGGACACATC CCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCTCCTCGGGACACATCCCTCCTCCCCCCACGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCC CCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCAC GGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCAGGGGACACATCCCCCCTCCCTCCAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		358		chr13	TogoVar
TPK1_chr7_144446941_144841053	144780610	T T	TATTATAT others(569): Show TATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATA GTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTAT ATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTA TATAGTATATAATATAGTATATTATATTATATAGTATATAATATATATTA TATTATATAGTATATTATATTATATTATATAGTATATAATATTATATTAT ATAGTATATAATATTATATTATATAGTATATAATATAGTATATTATATTA TATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATA TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGT ATATTATATTATATAGTATATAATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	118	0.0085	576	c.44- others(593): Show c.44-14660_44-14659insTATATTATATACTATATAATATAATATA CTATATTATATACTATATAATATAATATACTATATTATATACTATATAAT ATAATATACTATATTATATACTATATAATATAATATACTATATTATATAC TATATAATATAATATACTATATTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATTATATACTATA TAATATAATATTATATACTATATAATATAATATAATATACTATATAATAT AATATATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144780648	T T	TAGTATAT others(569): Show TAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATATATTATATTATATAGTATATTATATTATATTATATAGTATA TAATATTATATTATATAGTATATAATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATAGTAT ATAGTATATTATATACTATACTATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	118	0.0085	576	c.44- others(593): Show c.44-14698_44-14697insTATATAGTATAGTATATAATATACTATA TACTATACTATATTATATACTATATAATATAATATACTATATTATATACT ATATAATATAATATACTATATTATATACTATATAATATAATATACTATAT TATATACTATATAATATAATATACTATATTATATACTATATAATATAATA TACTATATTATATACTATATAATATAATATACTATATTATATACTATATA ATATAATATACTATATTATATACTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATTATATACTATATAATATAATATTAT ATACTATATAATATAATATAATATACTATATAATATAATATATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(569): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATATA TATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG04199.hp2 NA18986.hp1 HG02293.hp1 HG04199.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0045 a0001c0001t0002 a0001c0001t0045	a0001c0001t0002g0120 a0001c0001t0002g0314 a0001c0001t0045g0107 a0001c0001t0002g0120 a0001c0001t0002g0314 a0001c0001t0045g0107	3	388	0.0077	576	c.-23 others(593): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(569): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAAT GTATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGT ATATATACATTATACATACGTAAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATATA TATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18994.hp1 HG04199.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0220 a0001c0001t0002g0118 a0001c0001t0001g0220 a0001c0001t0002g0118	2	388	0.0052	576	c.-23 others(593): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(569): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATAATATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	272	0.0037	576	c.29 others(587): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATAATATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151377	G G	GTGAGAGG others(569): Show GTGAGAGGGGGAGTGAGAGAGGGGGTGAGAAGGGAGTGGAGAGTGGGGGT TGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGAGTGAGAGAGGGGTTGAGAAGGGGAGGTGAGAGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGG GGGAGTGAGAGAGGGGGTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGATGAGAGTGGGGGTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGGTGAGAAGGGAAGTGAGAGTGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	228	0.0044	576	c.40 others(587): Show c.4005_*4006insTGAGAGGGGGAGTGAGAGAGGGGGTGAGAAGGGA GTGGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGA GTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGTTGAGAAGGGGAGGT GAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GAGGGGTTGAGAAGGGGGAGTGAGAGAGGGGGTGAGAAGGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGA GGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATGAGAGTGGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGT TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGC	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3635		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152526	G G	GGGAGAGA others(569): Show GGGAGAGAAGGGGAGTGAGAGAGGGGTTGAGAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGGAGAGGGGGTTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGATGAGAAAGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGGTGAGAAG GGAAGTGAGAGTGGGGCTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGAAGTGAGTGTGGGGGTTGAGAAGGGGA GGGAGAGAGAGGGTGAGAAGGGGAGTGAGTGGGGGTGAGAAGGGGAGTGA GAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGT GGGGGTTGAGATGGGGAGTGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	228	0.0044	576	c.51 others(587): Show c.5154_*5155insGGAGAGAAGGGGAGTGAGAGAGGGGTTGAGAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGGAGAGGGGGTTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGATGAGAAAGGGA GTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GAGGGGGGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGTGTGG GGGTTGAGAAGGGGAGGGAGAGAGAGGGTGAGAAGGGGAGTGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGAAGTGAGAGTGGGGGTTGAGATGGGGAGTGAGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4784		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870360	C C	CACCACAC others(569): Show CACCACACCCCATACACACCACACACACCACACACACCACACACCCCACA CACACCACACAAACCACACACCCTACACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACACCACACACCCCACACAC ACCACACACCCTACACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACAAC ACACCCCACACACACCACACAAACCACATACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACACCCCACACACA CCACACAAACCACACACCCTACACACCCCACACACACCACACCCCACACA CACCCCACACACCACACACACACCACACACCCCACACACACCACACCCCA CACACACCCCACACACCACACACACACCACACACCCCACACACACCACAC AAACCACACACCCTACACACCCCACACACCCCACACACACCACACCCCAC ACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	338	0.0030	576	c.35 others(595): Show c.35+21629_*35+21630insCACACCCCATACACACCACACACACC ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CACACCACACACCCCACACACACCACACACCCTACACACCCCATACACAC CACACCCCACACACACCACACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACAACACACCCCACACACACCACACAAACCACAT ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCATAC ACACCACACACCCCACACACACCACACAAACCACACACCCTACACACCCC ACACACACCACACCCCACACACACCCCACACACCACACACACACCACACA CCCCACACACACCACACCCCACACACACCCCACACACCACACACACACCA CACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACAC CCCACACACACCACACCCCACACACACCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870459	C C	CACACCCC others(569): Show CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCA CACACCCCACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACCCCACACACCCC ACACACACCACACAAACCACACACCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	338	0.0030	576	c.35 others(595): Show c.35+21730_*35+21731insCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACACCCCACACACACCACACACCCCACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACCCCACACACCCCACACACACCACACAAACCACACACCCTACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)