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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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
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(815): Show CAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG02273.hp2 others(1): Show HG01934.hp1 HG02004.hp1 HG02273.hp2 HG02300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0037 a0001c0001 a0001c0002 a0010c0037	a0001c0001t0002 a0001c0002t0002 a0001c0002t0016 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0016 a0010c0037t0001	a0001c0001t0002g0220 a0001c0002t0002g0056 a0001c0002t0016g0237 others(1): Show a0001c0001t0002g0220 a0001c0002t0002g0056 a0001c0002t0016g0237 a0010c0037t0001g0057	4	272	0.0147	822	c.109 others(841): Show c.109+14824_109+14825insGATATGGGGGTAGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(815): Show CAGTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGAT ATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	272	0.0037	822	c.109 others(841): Show c.109+14824_109+14825insGATATGGGGGTGGGGAAGGGATGCAG TTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(815): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAG TTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATG GAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGG AGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATA GATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGG CGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGC AGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAA TATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 HG02486.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0052 a0001c0005 a0001c0052	a0001c0005t0006 a0001c0052t0020 a0001c0005t0006 a0001c0052t0020	a0001c0005t0006g0040 a0001c0052t0020g0199 a0001c0005t0006g0040 a0001c0052t0020g0199	2	272	0.0074	822	c.109 others(841): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGG GCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTT ATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAG GTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGG GTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAG ATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTG GGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCA GTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DLGAP2_chr8_732628_1713476	1337435	A A	ATGGTGAT others(815): Show ATGGTGATGGTGATGATGTTGATGGTGATGATGGTGATGATGTTGATGGT GATGATGGTGATGGTGAGAATGATGGGGATGAGGATGATAGTGGTGATGA GGATGGCGATGGTGATGCTGATGATAGTGATGATGGTGCTGGTGATGATG ATGGTGATGGTGATGATGGTAAGGATGATGGGAAAGAGAATGATATTGGT GATGAGGATGGTGATGGTGATGCTGATGACAGTGATGATGGTGATGATGA GGATGATGGTGGTGATGATGATGATGGTGATGCTGATGATGGTGATGGTG AGGATGATGGTGATGGTGAGAATGATGGTGATGATGTGACGGTGAGGATG ATGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAGATGGTGGT GAGGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGTGGTGAGGA TAATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGGTGATGGTG AGGATGATGGTGGTAGTGAGGATGATAATGGTGAGAATGACGGTGAGGGT GATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACAGTGAGGATGA TGATGATGGTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGATG ATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGAA GATGATGGTGATGGTGACGATGATGGTGGTAGTGAGGGTGATGTTGGTGA GAATTATGGTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGATG ACTGATGATGTTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02895.hp1 HG03492.hp1 HG00639.hp1 HG02895.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0002c0001t0007 a0001c0002t0001 a0001c0003t0001 a0002c0001t0007	a0001c0002t0001g0019 a0001c0003t0001g0027 a0002c0001t0007g0038 a0001c0002t0001g0019 a0001c0003t0001g0027 a0002c0001t0007g0038	3	40	0.0750	822	c.106 others(841): Show c.106+78554_106+78555insGTGATGGTGATGATGTTGATGGTGAT GATGGTGATGATGTTGATGGTGATGATGGTGATGGTGAGAATGATGGGGA TGAGGATGATAGTGGTGATGAGGATGGCGATGGTGATGCTGATGATAGTG ATGATGGTGCTGGTGATGATGATGGTGATGGTGATGATGGTAAGGATGAT GGGAAAGAGAATGATATTGGTGATGAGGATGGTGATGGTGATGCTGATGA CAGTGATGATGGTGATGATGAGGATGATGGTGGTGATGATGATGATGGTG ATGCTGATGATGGTGATGGTGAGGATGATGGTGATGGTGAGAATGATGGT GATGATGTGACGGTGAGGATGATGGTGGTAGTGAGGATGATGGTGAGAAT GATGGTGAGGAAGATGGTGGTGAGGATAATGGTGATGGTGAGAATGATGG TGAGGATGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTG AGAATGATGATGGTGATGGTGAGGATGATGGTGGTAGTGAGGATGATAAT GGTGAGAATGACGGTGAGGGTGATGGTGGTGAGGATAATGGTGATGGTGA GGATGATGACAGTGAGGATGATGATGATGGTGAGGATGATGGTGGTGAGG ATAATGGTGATGATGAGGATGATGGTGGTGAGGATAATGGTGATGGTGAG GATGATGACGGTGAGAATGAAGATGATGGTGATGGTGACGATGATGGTGG TAGTGAGGGTGATGTTGGTGAGAATTATGGTGAGGATGATGGTGGTGAGG ATGGTGATGGTGATGCTGATGACTGATGATGTTGATGGTGATGGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK7_chr4_3458306_3499482	3476178	A A	ATGATGCC others(815): Show ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCCCAT GATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGA TGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCAT GATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGA TGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGTGA TGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGATG CCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGTGATG CCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGATG CCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCC CTCACCCCACCCGCCCGTGATGACCTCTCGCCCCACCCGCCCGTGATGCC CTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGATGAC CTCTCGCCCCGCCCGCCCGTGATGCCCTCTCGCCCCACCTGCCCGTGATG CCCTCTCACCCCACCTGCCCATGATGCCCTCTCACCCCGCCTGCCCATGA TGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCCAT GATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCC ATGATGCCCTCTCACCCCACCTG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	404	0.0025	822	c.332 others(837): Show c.332-164_332-163insTGATGCCCTCACCCCACCCGCCCATGATGC CCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCC TCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCC TCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCC TCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCC TCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTC TCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTC ACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTC ACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTC ACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGATGCCCTCAC CCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATGACCTCTCGC CCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCAC CCCACCCGCCCGTGATGACCTCTCGCCCCGCCCGCCCGTGATGCCCTCTC GCCCCACCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATGATGCCCTC TCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCC TCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCCATGATGC CCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCACCTG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6			chr4	TogoVar
DPEP1_chr16_89608642_89643433	89635050	C C	CCCTTTCC others(815): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	250	0.0040	822	c.105 others(837): Show c.105-858_105-857insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
HPCAL1_chr2_10297904_10432604	10399226	C C	CCACCGCC others(815): Show CCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCATCACCATCACCGCCACCACCATC ACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCGCC ACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCA CCACCACCATCACCATCATCACCACCACCACCACCACCACCGCCACCACC ACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCACCACCATCACCGCCACCACCATCACCATCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCATCACCACCACCACCACCACCACCACCACCGCCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCGCCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	314	0.0032	822	c.-25 others(839): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA TCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACC ACCACCACCACCACCACCACCACCACCACCATCACCGCCACCACCATCAC CATCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACC ACCACCACCACCGCCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399442	T T	TCACCACC others(815): Show TCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCACCACCATCACCACCGC CACCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCACC ACCATCATCACCACCATCACCACCACCATCATCACCACCATCACCACCGC CACCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCGCC ACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCATCATCACCAC CATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACC ACCATCATCACCACCATCATCAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	314	0.0032	822	c.-25 others(839): Show c.-25+2527_-25+2528insCCGCCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCA CCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCATCAC CACCACCATCATCACCACCATCATCACCACCATCACCACCACCATCATCA CCACCATCACCACCGCCACCACCACCACCATCACCACCGCCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCATCATCACCACCATCAC CACCACCATCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCACCGCCACCACCACCACCATCACCACCACCACCATCACCA TCATCACCACCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCATCATCACCACCATCACCACCGCCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCAT CACCACCATCACCACCACCATCATCACCACCATCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(815): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACCACCACCACCACCACCATTATCTCCTTCATC ACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCAC CACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCA TCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCC ACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCA CCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCC ACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCA TCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACC ACTATCACCATCACCATCACCTCCACCACCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCCTCCGCCACCATCA CCATCACCTCCACCACCACCACA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	274	0.0037	822	c.804 others(839): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGA GATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAG TGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAG GTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(815): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACCACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATC ACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCAC CACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCA TCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCC ACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCA CCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCC ACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCA TCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACC ACTATCACCATCACCATCACCTCCACCACCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCCTCCGCCACCATCA CCATCACCTCCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	274	0.0037	822	c.804 others(839): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAG TGGTGATGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGAGGAG GTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(815): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCATCACCTCCACCACCACCACCACCACCAC CACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCCA CCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAG CACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCA CTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCAC TACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCT TCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACC ACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTAT CACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	274	0.0037	822	c.804 others(839): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG GTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGG GGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAG GTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGT GGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAG GTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGT GGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGA TGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTG GTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(815): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG GAATATATATATGCAGTATATATATATGAATATATATATGGAATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATGTGGAATATATATATGGAATATATATATATGTGGAAT ATATATATGGAATATATATATATGTGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAA TATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATAC ATGGAATATATATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATATGGAATATATACATGGAATATATATATATGGA ATATATACATGGAATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATACATGGAATATATACATGGAACATATA CATGGAATATATACATGGAACATATACATGGAATATATATATATGGAACA TATACGGAATATATATATGGAATATATATACGGAATATATATATATGGAA TATATATACGGAATATATATATGGAATATATATACGGAATATATATATAT GGAATATATATACGGAATATATATATGGAATATATATACGGAATATGTAT ATGGAATATATATACGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	323	0.0031	822	c.-27 others(833): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGGAATATATATATGCAGTATATATATATGAATATAT ATATGGAATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATGTGGAATATATATATGGAATAT ATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATACATGGAATATATGTATATGG AATATATACATGGAATATATGTATATGGAATATATACATGGAATATGTGT ATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATATGGAATATATACATGGA ATATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATACATGGAATATA TACATGGAACATATACATGGAATATATACATGGAACATATACATGGAATA TATATATATGGAACATATACGGAATATATATATGGAATATATATACGGAA TATATATATATGGAATATATATACGGAATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATACGGAATATATATATGGAATATAT ATACGGAATATGTATATGGAATATATATACGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(815): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATATGTGGAATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATGTGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAACATATACATGGAATATATAC ATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATAT ATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGAATATATATATGGAATATGTATATGGAATATA TATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0221 a0002c0004t0002g0221	1	323	0.0031	822	c.-26 others(833): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATGTGTATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATATATATGGAATATATACATGGAATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATATATATGGAA TATATACATGGAATATATATATATAGAATATATACATGGAATATATATAT GGAATATATACATGGAATATATATATATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATACATGGAACAT ATACATGGAATATATATATATGGAACATATACGGAATATATATATGGAAT ATATATACGGAATATATATATATGGAATATATATACGGAATATATATATG GAATATATATACGGAATATATATATATGGAATATATATACGGAATATATA TATATGGAATATATATACGGAATATATATATGGAATATATATATGGAATA TGTATATGGAATATATATATATGGAATATGTATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132719626	A A	AGCTGTCT others(815): Show AGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCTTAGA CGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGTGCCTTAG ACAGCTGTCTTGCGGGTTCTTTGGTGCCTGGGTTCTGTCTGGGCACCTTA GACGACTGTCTTCAGGGTTCTGTGGTACCTCGGTTCTGTCTGGGCACCTT AGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCT TAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGGGGGCA CCTTAGACAGCTGTCTTCAGGGTTCTGTGGTGCCTGAGTTCTGTCTGGGC GCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGGG CGCCTTAGATGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCTGG GCACCTTAGACGGCTGTCTTCAGGGATCTGTGGTACCTGGGTTCTGTCTG GGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCCTGGGTTCTGTCT GGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGCCTGGGTTCTGTC TGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGT CTGGGGGCCTTAGATGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTG CCTGGAGGAGCCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTGGGTT CTGTCTGGGCGCCATAGACGGCTGTCTTCAGGGTTCTGTGATACCTGGGT TCTTTCTGGGGGCGCCTTAGACT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03195.hp2 others(3): Show HG02280.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0012 a0001c0004t0021 a0001c0004t0002 a0001c0004t0012 a0001c0004t0021	a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 others(3): Show a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0032 a0001c0004t0012g0166 a0001c0004t0021g0146	6	204	0.0294	822	c.648 others(839): Show c.648-7187_648-7186insCAGGGTTCTGTGGTACCTGGGTTCTGTC TGGGCACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGT CTGGGTGCCTTAGACAGCTGTCTTGCGGGTTCTTTGGTGCCTGGGTTCTG TCTGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGTACCTCGGTTCT GTCTGGGCACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTC TGTCTGGGCACCTTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTT CTTTCTGGGGGCACCTTAGACAGCTGTCTTCAGGGTTCTGTGGTGCCTGA GTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTG GGTTCTGTCTGGGCGCCTTAGATGGCTGTCTTGCGGGTTCTGTGGTACCT GGGTTCTGTCTGGGCACCTTAGACGGCTGTCTTCAGGGATCTGTGGTACC TGGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTGC CTGGGTTCTGTCTGGGCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTG CCTGGGTTCTGTCTGGGCACCTTAGACGACTGTCTTCAGGGTTCTGTGGT ACCTGGGTTCTGTCTGGGGGCCTTAGATGGCTGTCTTCAGGGTTCTGTGG TACCTGGGTTCTGCCTGGAGGAGCCTTAGACGACTGTCTTCAGGGTTCTG TGGTACCTGGGTTCTGTCTGGGCGCCATAGACGGCTGTCTTCAGGGTTCT GTGATACCTGGGTTCTTTCTGGGGGCGCCTTAGACTGCTGTCTT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQGAP3_chr1_156520405_156577565	156557466	A A	ACCCCGTC others(815): Show ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGA AGTGAGGACCCCTCTGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGCGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCAGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCAC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAG TGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGA TCAGCCCCCCGCCTGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 NA18906.hp1 HG02257.hp2 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0033 a0004c0005t0013g0034 a0004c0005t0013g0035 a0004c0005t0013g0033 a0004c0005t0013g0034 a0004c0005t0013g0035	3	340	0.0088	822	c.113 others(839): Show c.1130-774_1130-773insCGGCTGGCCAGGCGGGGGGCTGATCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCC CAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGC TGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGG CTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCGCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCA GTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding	11/37			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(815): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCAG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCA GGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGG TGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGG AGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAG GGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGG CACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTG GGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGC GGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAG GAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACA GGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0041 a0004c0004t0005g0041	1	270	0.0037	822	c.178 others(839): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAG GAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAG GGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGT GGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGG GAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(815): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	822	c.-27 others(833): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(815): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTGTCCTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGC CCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACA CACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTC CTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03927.hp2 HG01109.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0274 a0001c0003t0006g0286 a0001c0003t0006g0274 a0001c0003t0006g0286	2	308	0.0065	822	c.66 others(833): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCC CACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTGTCCTGCTCACACACCACACAGCTCACACCCC TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACA GCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124471447	T T	TTATATAT others(815): Show TTATATATATTTATATATATTTTATATATATTTATATATATATAAATTTT TTTATATTTATATATTTTTTATATATTTATATATATTACATATATTTTTA TATTTTATATATATTTATATATTTTATATATTTATATATTTTTTATATAT TTATATATTTATATATATATTTATATATATTTATGTATATTTATATATAT ATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATGT ATATTTATATATATTTATATATTTATGTATATATTTATATATATTTATAT ATTTATGTATAAATTTATATATATTTATATGTATTTATATATATATTTAT ATGTATTTATATATATTTATATATTTATATGTATTTATACATATATATTT ATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTATTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATTTATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	260	0.0039	822	c.125 others(839): Show c.125+9467_125+9468insATTTATATATATTTTATATATATTTATA TATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATATTATTTATATATATATTTAT ATATATTTATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(815): Show ATAAAACTCTATATAGTCACATATGTATATAAAACTCTATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AATCATATATGTATATAAAACTATAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGT ATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	822	c.-30 others(833): Show c.-3002_-3001insTAAAACTCTATATAGTCACATATGTATATAAAAC TCTATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTTATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAATCATATATGTATATAAAACTATAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATA TATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAAC TATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(815): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACC ACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTC AGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGATGGGTACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	358	0.0028	822	c.65 others(833): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCAT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(815): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCTCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCACACAACGCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0053 a0053	a0053c0109 a0053c0109	a0053c0109t0011 a0053c0109t0011	a0053c0109t0011g0231 a0053c0109t0011g0231	1	292	0.0034	822	c.377 others(839): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTGTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGAGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(815): Show GGAGTGAGAGAAGGGGGGAGGAGGAGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01175.hp1 HG01071.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	280	0.0071	822	c.641 others(837): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTT TTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCT CTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCTTTTCCTCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(815): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAA AAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGA GGGGGGAGGAGTGAGAGAAGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	280	0.0036	822	c.641 others(837): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCTTCTCTCACTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCC CTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCT CCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTT TTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCT CTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(815): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGA AAGGGGTGGGGGGAAGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGA GGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG AGGGGAGGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGAGGG GGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGA GGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGG GAGGGAAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0120 a0001c0013t0001g0120	1	272	0.0037	822	c.250 others(837): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTC ACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTT CCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCCTTCCCCCCGCCCCTTTTCCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NEU4_chr2_241804193_241822413	241807814	T T	TCCCTCCC others(815): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCT CAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCT CAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	822	c.-14 others(833): Show c.-1464_-1463insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1378		chr2	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(815): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAA GGGGGAGGGGAAGGGGAGGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GAGGAGGGGGAGGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAG GGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGG AGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGG GGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGGAAGGG AGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGA GGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGA GGAGGGGAAGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGA GGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGA GAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 NA19030.hp1 HG00642.hp1 HG01255.hp2 NA19030.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0012c0019 a0001c0004 a0012c0019	a0001c0004t0001 a0012c0019t0001 a0001c0004t0001 a0012c0019t0001	a0001c0004t0001g0182 a0001c0004t0001g0183 a0012c0019t0001g0176 a0001c0004t0001g0182 a0001c0004t0001g0183 a0012c0019t0001g0176	3	208	0.0144	822	c.279 others(837): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCC CCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCC CTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(815): Show GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTC CCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCC CCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	242	0.0041	822	c.360 others(841): Show c.360+30209_360+30210insAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAG AGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(815): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA CCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATCACA ACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCACCAC CATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCA TCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACCATC ACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCAT CACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCA CCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCA TCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACC ACCACCATCACCACCGCCACCATCACCACCACCATCACGATTATCACCAT CACCGCCATCATTACCACCATCATCACCATCACCACCACCATCACCACCG CCACCATCATCATCACCACCACCACCATCACCAGCGCCACCACCACCATC ACCATCACCACCACCACCATCACCATCACCACCATCATCACCATTATCAT CACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATCCTCA CCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0133 a0001c0005t0013g0133	1	300	0.0033	822	c.120 others(841): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGGCGGTGGTGATGGTGGTGGT GATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATCGTGATGG TGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGTGATG GTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGATGGT GACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGG TGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGATGGTGATG ATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGAT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGA TGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTG GTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGT GATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGA TGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(815): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCAC ACCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGG TCAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGGATG GAGTTTTGCTCTTGTCGCCCAGGCTGGAGTGCAATGGTACGATCTCGGCT CACGGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTC CCGAGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCAT ATTTTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	208	0.0048	822	c.137 others(839): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCA GGGGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAG CCACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTTGAGACGGC GTCTCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGG TTCACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTAT AGGCGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATC CGCCCACCTCGGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCAC ACCCGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCT ACTATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCC AGACTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGG CGCAGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGT GGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
SLC22A1_chr6_160116815_160163718	160125720	A A	AGGATGTG others(815): Show AGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCC TCTTCTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCC TGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATG AGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCA ACAAGAGGATCTCCTCTTCTGCTAAGATCACGAGGTCCACTCGGGGGGGA TGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTG GTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTCCTGGC TTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGT CCACTCGGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACA AGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATTT GGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTCTGGTG CTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGGCTTT TGACTCTCCCAACAAGAGGATCTCCTCTGCTGCTAAGATCATGAGGTCCA CTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAG GATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATGTGGGC ATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAA GATCATGAGGTCCACTCAGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	416	0.0024	822	c.411 others(839): Show c.411+3590_411+3591insTCTGCTAAGATCACGAGGTCCACTCGGG GGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTC CTCTGGTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTC CTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCAT GAGGTCCACTCGGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCC CAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGG GATTTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTC TGGTGCTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTG GCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGCTGCTAAGATCATGAG GTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAAC AAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATG TGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGT GCTAAGATCATGAGGTCCACTCAGGGAGGGATGTGGGCATTTTCCTGGCT TTTGACTCTCCCAACAAGAGGATCTCCTCTTCTGCTAAGATCATGAGGTC CACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAG AGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGG GCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC22A1_chr6_160116815_160163718	160125720	A A	AGGATGTG others(815): Show AGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCC TCTTCTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGGGCATTTTCC TGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATG AGGTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCA ACAAGAGGATCTCCTCTTCTGCTAAGATCACGAGGTCCACTCGGGGGGGA TGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTG GTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTCCTGGC TTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGT CCACTCGGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACA AGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATTT GGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTCTGGTG CTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTGGCTTT TGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCA CTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAG GATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATGTGGGC ATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAA GATCATGAGGTCCACTCAGGGAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18941.hp1 NA18960.hp2 others(5): Show NA18939.hp2 NA18941.hp1 NA18960.hp2 NA18993.hp1 NA19003.hp2 NA19062.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288	8	416	0.0192	822	c.411 others(839): Show c.411+3590_411+3591insTCTGCTAAGATCACGAGGTCCACTCGGG GGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTC CTCTGGTGCTAAGATCACGAGGTCCACTCGGGGGAGATGTGGGCATTTTC CTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCAT GAGGTCCACTCGGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCC CAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGG GATTTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCTTC TGGTGCTAAGATCATGAGGTCCACTCGGGGGGTATGTGGGCATTTTCCTG GCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGTGCTAAGATCATGAG GTCCACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAAC AAGAGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGAGGGATG TGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCTGGT GCTAAGATCATGAGGTCCACTCAGGGAGGGATGTGGGCATTTTCCTGGCT TTTGACTCTCCCAACAAGAGGATCTCCTCTTCTGCTAAGATCATGAGGTC CACTCGGGGGGGATGTGGGCATTTTCCTGGCTTTTGACTCTCCCAACAAG AGGATCTCCTCTGGTGCTAAGATCATGAGGTCCACTCGGGGGGGATGTGG GCATTTTCCTGGCTTTTGACTCTCCCAACAAGAGGATCTCCTCT	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(815): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATAAAAATATATATAAATATATATATAAAT ATATATAAAAATATATAAAAATATATATAAATATATATAAATATATATAA ATATATAAATATATATAAATATATATAAATATATATAAATATATATATAA ATATTATAAATATATATAAATATATATATAAATATATAAAAATATATATA AATAATATAAATATATATAAATATATATATAAAATATATAAATATATATA TAAATATATAAAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATGTATATATAAATATATATATA AATATATATAAATATATATAACTATATATAAATATATATATAACTATATA TAAATATATATATAATATATATAATATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATAAAAAATATAT ATAAATATATAAATATATAAAAAATATAAAAAATATATATAAATATATAT AAATATATATATAAATATATAAAAAAATATATATATAAATATATATAAAT ATATAAAAATATATTTATATATATAAATATATTTATATATAAATATAAAT ATATATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	186	0.0054	822	c.-50 others(833): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATAAAAATATATATA AATATATATATAAATATATATAAAAATATATAAAAATATATATAAATATA TATAAATATATATAAATATATAAATATATATAAATATATATAAATATATA TAAATATATATATAAATATTATAAATATATATAAATATATATATAAATAT ATAAAAATATATATAAATAATATAAATATATATAAATATATATATAAAAT ATATAAATATATATATAAATATATAAAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT AAATATATATAAATATATATAAATATATATAAATATATATAAATGTATAT ATAAATATATATATAAATATATATAAATATATATAACTATATATAAATAT ATATATAACTATATATAAATATATATATAATATATATAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATATAAATATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATAAAT ATATAAAAAATATATATAAATATATAAATATATAAAAAATATAAAAAATA TATATAAATATATATAAATATATATATAAATATATAAAAAAATATATATA TAAATATATATAAATATATAAAAATATATTTATATATATAAATATATTTA TATATAAATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(815): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCA GGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCA GTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAAC CCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACC AACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACC ACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACC ACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTC AGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGG GCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTG TGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	251	0.0040	822	c.-11 others(833): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGG TGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCC GGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTG GCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGA GGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGG GCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCAT CACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(815): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAG AGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGT GGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAG GAGGTGGGAGTGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGG TGGGATGGGGCAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGG GAGAGAAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAG GAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00597.hp2 others(27): Show HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01978.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18962.hp2 NA18980.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0002g0005 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0111 a0001c0001t0005g0041 a0001c0001t0005g0105 a0001c0001t0006g0112 a0001c0001t0009g0043 a0001c0001t0011g0106 a0001c0001t0013g0054 a0001c0001t0014g0065 a0001c0001t0017g0068 a0001c0001t0018g0089	30	112	0.2679	822	c.638 others(837): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAG AAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGTGG GGGGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAGGA GGTGGGAGTGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTG GGATGGGGCAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGGA GAGAAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGA GGTGGGAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAAGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCATGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp1 HG01433.hp2 others(2): Show HG01123.hp2 HG01175.hp1 HG01433.hp2 HG02735.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0009 a0001c0003t0010g0042 a0001c0003t0010g0043 others(1): Show a0001c0003t0010g0009 a0001c0003t0010g0042 a0001c0003t0010g0043 a0001c0003t0010g0044	5	409	0.0122	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCATGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACTTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCATGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCATATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02572.hp1 others(13): Show HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 others(5): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0068 a0001c0001t0078 a0001c0001t0083 a0001c0001t0085	a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0061 others(12): Show a0001c0001t0006g0047 a0001c0001t0006g0054 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0009g0072 a0001c0001t0017g0011 a0001c0001t0017g0070 a0001c0001t0017g0071 a0001c0001t0024g0062 a0001c0001t0024g0066 a0001c0001t0068g0073 a0001c0001t0078g0074 a0001c0001t0083g0067 a0001c0001t0085g0065	16	409	0.0391	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATATGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCATGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCATGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCGGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCTCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02970.hp2 others(4): Show HG02451.hp2 HG02615.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0003g0060 a0001c0001t0006g0055 a0001c0001t0006g0056 others(4): Show a0001c0001t0003g0060 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0150 a0001c0001t0009g0057 a0001c0001t0009g0059	7	409	0.0171	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGAGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCCGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCATGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCATGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01168.hp2 others(21): Show HG00140.hp2 HG00639.hp1 HG01168.hp2 HG01243.hp1 HG01981.hp2 HG02148.hp2 HG02293.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp1 HG03041.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18970.hp2 NA18982.hp2 NA19005.hp2 NA19030.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0013 a0001c0001t0038 a0001c0001t0091 others(10): Show a0001c0001t0013 a0001c0001t0038 a0001c0001t0091 a0001c0002t0028 a0001c0003t0010 a0001c0003t0011 a0001c0003t0019 a0001c0003t0027 a0001c0004t0028 a0001c0009t0004 a0001c0009t0006 a0001c0009t0007 a0001c0009t0024	a0001c0001t0013g0053 a0001c0001t0038g0045 a0001c0001t0091g0048 others(17): Show a0001c0001t0013g0053 a0001c0001t0038g0045 a0001c0001t0091g0048 a0001c0002t0028g0033 a0001c0003t0010g0008 a0001c0003t0010g0039 a0001c0003t0011g0034 a0001c0003t0011g0036 a0001c0003t0011g0037 a0001c0003t0011g0038 a0001c0003t0011g0040 a0001c0003t0011g0041 a0001c0003t0011g0046 a0001c0003t0019g0003 a0001c0003t0027g0007 a0001c0004t0028g0035 a0001c0009t0004g0049 a0001c0009t0006g0052 a0001c0009t0007g0051 a0001c0009t0024g0050	24	409	0.0587	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCATGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACAACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCGTATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAG ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0240 a0001c0001t0022g0240	1	409	0.0024	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATCTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATACGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT TGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACCTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0156 a0001c0003t0030g0156	1	409	0.0024	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCAGGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(47): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0069 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0081 a0001c0001t0084 a0001c0001t0088 a0001c0001t0092 a0001c0001t0093 a0001c0002t0001 a0001c0002t0014 a0001c0002t0047 a0001c0002t0048 a0001c0002t0064 a0001c0002t0067 a0001c0002t0090 a0001c0002t0094 a0001c0003t0039 a0001c0003t0041 a0001c0004t0001 a0001c0004t0002 a0001c0005t0049 a0001c0006t0002 a0001c0006t0004 a0001c0006t0018 a0001c0006t0052 a0001c0008t0008 a0001c0009t0004 a0001c0011t0004 a0002c0007t0007	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0026 others(124): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0171 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0315 a0001c0001t0003g0021 a0001c0001t0003g0254 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0327 a0001c0001t0004g0030 a0001c0001t0004g0318 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0354 a0001c0001t0005g0180 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0301 a0001c0001t0006g0324 a0001c0001t0015g0152 a0001c0001t0015g0153 a0001c0001t0016g0173 a0001c0001t0016g0261 a0001c0001t0016g0273 a0001c0001t0016g0280 a0001c0001t0016g0292 a0001c0001t0020g0174 a0001c0001t0020g0175 a0001c0001t0020g0176 a0001c0001t0021g0005 a0001c0001t0023g0181 a0001c0001t0029g0010 a0001c0001t0031g0355 a0001c0001t0031g0356 a0001c0001t0033g0345 a0001c0001t0034g0293 a0001c0001t0034g0294 a0001c0001t0042g0276 a0001c0001t0050g0251 a0001c0001t0051g0068 a0001c0001t0054g0290 a0001c0001t0055g0328 a0001c0001t0056g0329 a0001c0001t0069g0298 a0001c0001t0070g0285 a0001c0001t0073g0257 a0001c0001t0074g0322 a0001c0001t0081g0303 a0001c0001t0084g0335 a0001c0001t0088g0346 a0001c0001t0092g0284 a0001c0001t0093g0351 a0001c0002t0001g0028 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0177 a0001c0002t0001g0253 a0001c0002t0001g0286 a0001c0002t0001g0289 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0317 a0001c0002t0014g0313 a0001c0002t0047g0296 a0001c0002t0048g0308 a0001c0002t0064g0306 a0001c0002t0067g0275 a0001c0002t0090g0287 a0001c0002t0094g0307 a0001c0003t0039g0190 a0001c0003t0041g0288 a0001c0004t0001g0155 a0001c0004t0001g0172 a0001c0004t0001g0182 a0001c0004t0001g0297 a0001c0004t0001g0304 a0001c0004t0001g0321 a0001c0004t0001g0334 a0001c0004t0001g0347 a0001c0004t0002g0279 a0001c0005t0049g0311 a0001c0006t0002g0331 a0001c0006t0004g0029 a0001c0006t0004g0339 a0001c0006t0004g0340 a0001c0006t0004g0341 a0001c0006t0004g0343 a0001c0006t0004g0344 a0001c0006t0004g0349 a0001c0006t0018g0031 a0001c0006t0018g0333 a0001c0006t0018g0342 a0001c0006t0052g0348 a0001c0008t0008g0020 a0001c0008t0008g0309 a0001c0009t0004g0325 a0001c0011t0004g0330 a0002c0007t0007g0332	144	409	0.3521	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGTGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	409	0.0024	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCACTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGTGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01069.hp2 others(4): Show HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01106.hp1 HG01358.hp1 HG01496.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0015 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0001 a0001c0003t0040 a0001c0005t0035	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0015g0268 others(4): Show a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0015g0268 a0001c0002t0001g0270 a0001c0003t0040g0256 a0001c0005t0035g0269 a0001c0005t0035g0271	7	409	0.0171	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCACCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCGTATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19063.hp1 HG02055.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0057 a0001c0001t0005 a0001c0006t0057	a0001c0001t0005g0179 a0001c0006t0057g0350 a0001c0001t0005g0179 a0001c0006t0057g0350	2	409	0.0049	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATACGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCGTATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAG ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19030.hp1 NA19057.hp2 NA19065.hp2 NA19080.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0036 a0001c0001t0045 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0087 a0001c0002t0001 a0001c0002t0063 a0001c0004t0001 a0001c0004t0012 a0001c0008t0008 a0001c0010t0002 a0002c0007t0007	a0001c0001t0002g0023 a0001c0001t0002g0211 a0001c0001t0002g0237 others(67): Show a0001c0001t0002g0023 a0001c0001t0002g0211 a0001c0001t0002g0237 a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0357 a0001c0001t0003g0360 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0004g0239 a0001c0001t0005g0236 a0001c0001t0005g0314 a0001c0001t0009g0193 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0196 a0001c0001t0009g0198 a0001c0001t0013g0024 a0001c0001t0013g0206 a0001c0001t0013g0213 a0001c0001t0015g0246 a0001c0001t0022g0361 a0001c0001t0023g0203 a0001c0001t0023g0230 a0001c0001t0025g0243 a0001c0001t0025g0244 a0001c0001t0026g0022 a0001c0001t0026g0242 a0001c0001t0033g0212 a0001c0001t0036g0025 a0001c0001t0045g0232 a0001c0001t0071g0217 a0001c0001t0076g0207 a0001c0001t0077g0216 a0001c0001t0079g0228 a0001c0001t0080g0192 a0001c0001t0087g0197 a0001c0002t0001g0210 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0063g0238 a0001c0004t0001g0208 a0001c0004t0001g0218 a0001c0004t0001g0233 a0001c0004t0012g0358 a0001c0008t0008g0359 a0001c0010t0002g0219 a0002c0007t0007g0231	78	409	0.1907	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATCTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATACGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAATGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCGTATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02132.hp1 others(13): Show HG01099.hp1 HG02109.hp1 HG02132.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp1 HG03540.hp2 NA18950.hp2 NA19056.hp2 NA19080.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0002c0007	a0001c0001t0004 a0001c0001t0009 a0001c0001t0043 others(6): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0043 a0001c0001t0044 a0001c0002t0012 a0001c0012t0002 a0002c0007t0006 a0002c0007t0007 a0002c0007t0086	a0001c0001t0004g0168 a0001c0001t0009g0160 a0001c0001t0043g0170 others(12): Show a0001c0001t0004g0168 a0001c0001t0009g0160 a0001c0001t0043g0170 a0001c0001t0044g0169 a0001c0002t0012g0019 a0001c0002t0012g0157 a0001c0002t0012g0158 a0001c0012t0002g0159 a0002c0007t0006g0163 a0002c0007t0007g0161 a0002c0007t0007g0162 a0002c0007t0007g0164 a0002c0007t0007g0166 a0002c0007t0007g0167 a0002c0007t0086g0165	16	409	0.0391	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATACGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCATTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGACGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAATGGATGAGTCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCGTATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGGGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp2 HG03453.hp1 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0018 a0002c0007t0007g0018	2	409	0.0049	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCCCCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATACGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGACTCATCCATTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACGTCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPPP_chr5_654862_698352	689512	G G	GGACACAG others(815): Show GGACACAGAGTCTGCCCGGAGGAACGCACGCACCAATCCCTTCCCTGAGC CGCGCTGAACGGGAAAGGGCTCCAGGTGGCCTTAACTGCTGGGCTTAAAG AAAGGTTAAGAACCTCCCTTCCCTTCCAGAACCTCACTTTTAAATGATGT CAGCCTGACTGGCGTCCTCTGACGAGGCGCTCACCCTTCCACGACGGAGG GGAGAAGCCCGGCTTTCTGAACGGATGAGGCTGCAGAAGGCAGTTGGTAT GATGCAAAGACAGAAAGCTGCTGTCTGCTTCCACTCTTTTGAAAGATTTT TCATATTTCTTCCCCAAAAGAAGTCATGCATTTGGACATTTAGACATTAA ATTACAATTCGCAATTCAGTTGTGCTTGCACAGTTAAAGGAGAAACATGG AACCCAGAACAGTCTTCATTCGCGTATCAGGAAACAAGATTTAGGGACAG CTGATGTTTCTCTTTATTCTTTTTCTGAGACCCACGTGCCACTTTCCTGC AGGGCGCTGCCCTTCCCCAGGTGTGATTCCAGGGGGCTGCAGACCACAGA ACCCGCCCCTCTCCTGGATCCAGCAGGGCCAATCAAAGCCATTCCCAGTC AAGGCCCTGCAGCACTGGGGAGGGGCTTCCCCACCGAGGAGGTGCTGCTG AGCTGATGTGTCCTGGGGGCCCTGGCGGTGAGATGGCCTGGAGTGAAATG CCCAGGATGGGGAAGCCCTGGGTGGAGGAACCCTGGGGGGGATTGCCCTG GGGAGGGGGAAATCCCCTGGGGGGGAAGCGCTGGGGAGGGGGATTCCCCG GGGAAGAGGATGCCCTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 NA21309.hp1 HG01358.hp2 HG01496.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0075 a0001c0001t0002 a0001c0001t0075	a0001c0001t0002g0265 a0001c0001t0002g0316 a0001c0001t0075g0264 a0001c0001t0002g0265 a0001c0001t0002g0316 a0001c0001t0075g0264	3	409	0.0073	822	c.-5+ others(837): Show c.-5+3765_-5+3766insTCCACCCAGGGCATCCTCTTCCCCGGGGAA TCCCCCTCCCCAGCGCTTCCCCCCCAGGGGATTTCCCCCTCCCCAGGGCA ATCCCCCCCAGGGTTCCTCCACCCAGGGCTTCCCCATCCTGGGCATTTCA CTCCAGGCCATCTCACCGCCAGGGCCCCCAGGACACATCAGCTCAGCAGC ACCTCCTCGGTGGGGAAGCCCCTCCCCAGTGCTGCAGGGCCTTGACTGGG AATGGCTTTGATTGGCCCTGCTGGATCCAGGAGAGGGGCGGGTTCTGTGG TCTGCAGCCCCCTGGAATCACACCTGGGGAAGGGCAGCGCCCTGCAGGAA AGTGGCACGTGGGTCTCAGAAAAAGAATAAAGAGAAACATCAGCTGTCCC TAAATCTTGTTTCCTGATACGCGAATGAAGACTGTTCTGGGTTCCATGTT TCTCCTTTAACTGTGCAAGCACAACTGAATTGCGAATTGTAATTTAATGT CTAAATGTCCAAATGCATGACTTCTTTTGGGGAAGAAATATGAAAAATCT TTCAAAAGAGTGGAAGCAGACAGCAGCTTTCTGTCTTTGCATCATACCAA CTGCCTTCTGCAGCCTCATCCGTTCAGAAAGCCGGGCTTCTCCCCTCCGT CGTGGAAGGGTGAGCGCCTCGTCAGAGGACGCCAGTCAGGCTGACATCAT TTAAAAGTGAGGTTCTGGAAGGGAAGGGAGGTTCTTAACCTTTCTTTAAG CCCAGCAGTTAAGGCCACCTGGAGCCCTTTCCCGTTCAGCGCGGCTCAGG GAAGGGATTGGTGCGTGCGTTCCTCCGGGCAGACTCTGTGTC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TSNARE1_chr8_142207080_142408182	142272646	A A	ACACCTTC others(815): Show ACACCTTCCTCTTTCCATCCACCTGTCCATCTACACCTTCCTCCTTCCAT CCACCCACCCGTCTACACCTTCCTCCTTCCATCCATCCACCCGCCCATCT ACGCCTTTCTCCTTCCATCCACCCGCCCGTCTACACCTTCCTCCTTCCAT CCACCTGCCTGTCTACACTTCCTCCTTCCATCCACCTGCCTGTCTACACC TTCCTCCTTCCATCCATCCACTCACCTGTCTACACCTTCCTCCTTCCATC CGCCTGTCTACACTTTCCTCCTTCCATCCACCCACCCATCTATACCTTCC TCCTTCTGTCCACCTGCCCATCTACGCCTTCCTCCATCCATCCACCCGCC TGTCTACGCCTTTCTCCTTCCATCCACCCACCCATCTATACTTTCCTCCT TCCATCCACCTGCCTGTCTACATCTTCCTCCTTCCATCCACCTGCCTGTC TACACCTTCCTCCTTCCGTCCATCCACACATGCATCCGTTCTTCCAATCA TCCTTCTGGCCATGCCCTTGTCCATCAGGCACCCATCCACCTAAGTGAAT GTCCCCAGCAAGACAAGAGGGTCAAGCTTCCGTAGGGCAACAGGGAGAGA GGCCTGAACCTGAGATGCAGCAGACGTGGGCTCCAAGGCCAGCTCTGCTT GGTCTCAATAGCCATGCGACCCTAGAAAACACCTTCTCTTCTGCAGGCCT CAAATTCCCAGTCTGCAAATTAAAGGCCGGCTTCACAGTCTCTAGGTTTG GGATCTCTGACCCTTCCAGTTCCCTGGGTGTGGAAAATGGGTGAACAAAC GTCCCTCCCTGACACACTGTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00639.hp1 others(55): Show HG00099.hp2 HG00597.hp1 HG00639.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01258.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18954.hp1 NA18963.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0010 a0014	a0001c0001 a0002c0002 a0002c0014 others(6): Show a0001c0001 a0002c0002 a0002c0014 a0005c0005 a0007c0007 a0009c0017 a0009c0019 a0010c0018 a0014c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0014t0001 a0005c0005t0001 a0007c0007t0001 a0007c0007t0002 a0009c0017t0001 a0009c0019t0002 a0010c0018t0002 a0014c0011t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 others(55): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0002g0015 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0002g0139 a0002c0002t0002g0145 a0002c0002t0002g0155 a0002c0002t0002g0174 a0002c0002t0002g0188 a0002c0002t0003g0178 a0002c0002t0007g0223 a0002c0014t0001g0171 a0005c0005t0001g0150 a0005c0005t0001g0151 a0005c0005t0001g0181 a0005c0005t0001g0182 a0007c0007t0001g0017 a0007c0007t0002g0003 a0007c0007t0002g0043 a0007c0007t0002g0045 a0007c0007t0002g0046 a0007c0007t0002g0047 a0007c0007t0002g0053 a0007c0007t0002g0230 a0009c0017t0001g0060 a0009c0019t0002g0116 a0010c0018t0002g0026 a0014c0011t0002g0162	58	238	0.2437	822	c.144 others(841): Show c.1446+2134_1446+2135insCCCACAGTGTGTCAGGGAGGGACGTT TGTTCACCCATTTTCCACACCCAGGGAACTGGAAGGGTCAGAGATCCCAA ACCTAGAGACTGTGAAGCCGGCCTTTAATTTGCAGACTGGGAATTTGAGG CCTGCAGAAGAGAAGGTGTTTTCTAGGGTCGCATGGCTATTGAGACCAAG CAGAGCTGGCCTTGGAGCCCACGTCTGCTGCATCTCAGGTTCAGGCCTCT CTCCCTGTTGCCCTACGGAAGCTTGACCCTCTTGTCTTGCTGGGGACATT CACTTAGGTGGATGGGTGCCTGATGGACAAGGGCATGGCCAGAAGGATGA TTGGAAGAACGGATGCATGTGTGGATGGACGGAAGGAGGAAGGTGTAGAC AGGCAGGTGGATGGAAGGAGGAAGATGTAGACAGGCAGGTGGATGGAAGG AGGAAAGTATAGATGGGTGGGTGGATGGAAGGAGAAAGGCGTAGACAGGC GGGTGGATGGATGGAGGAAGGCGTAGATGGGCAGGTGGACAGAAGGAGGA AGGTATAGATGGGTGGGTGGATGGAAGGAGGAAAGTGTAGACAGGCGGAT GGAAGGAGGAAGGTGTAGACAGGTGAGTGGATGGATGGAAGGAGGAAGGT GTAGACAGGCAGGTGGATGGAAGGAGGAAGTGTAGACAGGCAGGTGGATG GAAGGAGGAAGGTGTAGACGGGCGGGTGGATGGAAGGAGAAAGGCGTAGA TGGGCGGGTGGATGGATGGAAGGAGGAAGGTGTAGACGGGTGGGTGGATG GAAGGAGGAAGGTGTAGATGGACAGGTGGATGGAAAGAGGAAGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar

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Search Results (Total: 7053 hits)