Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP2_chr7_146111801_148425998	146760409	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	13	c.98- others(30): Show c.98-13841_98-13829dupTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146871537	A A	ATAAATAA others(6): Show ATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	13	c.402 others(32): Show c.402+31651_402+31663dupTAAATAAATTAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147237049	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	40	0.0250	13	c.134 others(34): Show c.1349-63068_1349-63056dupTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147469506	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0009 a0001c0001t0007 a0001c0006t0009	a0001c0001t0007g0020 a0001c0006t0009g0028 a0001c0001t0007g0020 a0001c0006t0009g0028	2	40	0.0500	13	c.167 others(34): Show c.1671-16415_1671-16403dupTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147527015	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0010 a0001c0003t0013g0010	1	40	0.0250	13	c.177 others(34): Show c.1778-35108_1778-35096dupTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147560168	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0025 a0001c0008t0001g0025	1	40	0.0250	13	c.177 others(32): Show c.1778-1959_1778-1947dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147860589	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0004 a0001c0004t0005g0004	1	40	0.0250	13	c.209 others(34): Show c.2099-42974_2099-42962dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147973160	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02451.hp2 HG00735.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0019t0006 a0001c0001t0002 a0001c0019t0006	a0001c0001t0002g0006 a0001c0019t0006g0015 a0001c0001t0002g0006 a0001c0019t0006g0015	2	40	0.0500	13	c.225 others(32): Show c.2256-4693_2256-4681dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148022480	A A	AAAAAGAA others(6): Show AAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02886.hp2 others(3): Show HG01891.hp2 HG02630.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0012	a0001c0001t0006 a0001c0001t0007 a0001c0004t0003 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0004t0003 a0001c0004t0005 a0001c0005t0022 a0001c0012t0004	a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0004t0003g0036 others(3): Show a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0005t0022g0032 a0001c0012t0004g0026	6	40	0.1500	13	c.238 others(34): Show c.2383+44500_2383+44501insAAAGAAAAGAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148097340	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0006 a0001c0008t0001 a0001c0001t0006 a0001c0008t0001	a0001c0001t0006g0009 a0001c0008t0001g0025 a0001c0001t0006g0009 a0001c0008t0001g0025	2	40	0.0500	13	c.238 others(34): Show c.2384-20768_2384-20756dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148098444	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	13	c.238 others(34): Show c.2384-19661_2384-19649dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148135980	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19030.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0038 a0001c0015t0001g0011 a0001c0001t0001g0038 a0001c0015t0001g0011	2	40	0.0500	13	c.255 others(34): Show c.2555-11509_2555-11497dupAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148330113	G G	GTGGATGG others(6): Show GTGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01891.hp2 others(34): Show HG00735.hp1 HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0002c0016 a0002c0017 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0020 a0001c0003t0023 a0001c0004t0003 a0001c0005t0008 a0001c0005t0022 a0001c0006t0009 a0001c0006t0014 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0001c0011t0016 a0001c0012t0004 a0001c0013t0003 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004 a0002c0017t0015 a0003c0007t0017	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0013 a0001c0002t0002g0040 a0001c0002t0010g0002 a0001c0003t0004g0029 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0003t0020g0017 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0006t0009g0028 a0001c0006t0014g0033 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0011t0016g0019 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024 a0002c0017t0015g0037 a0003c0007t0017g0031	37	40	0.9250	13	c.347 others(34): Show c.3476-53524_3476-53523insATGGATGGATGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331581	A A	ATGGACAG others(6): Show ATGGACAGATGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02717.hp2 others(10): Show HG02451.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0003t0023 a0001c0004t0003 a0001c0005t0008 a0001c0008t0001 a0001c0009t0019 a0001c0010t0002 a0002c0016t0004 a0002c0017t0015	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0007 others(10): Show a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0002t0001g0021 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0005t0008g0005 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0010t0002g0014 a0002c0016t0004g0024 a0002c0017t0015g0037	13	40	0.3250	13	c.347 others(34): Show c.3476-52064_3476-52063insCAGATGGATTGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148331690	C C	CGGATGGA others(6): Show CGGATGGAGTGGAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG03139.hp2 HG02896.hp1 HG02922.hp2 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0011 a0005c0020 a0001c0004 a0001c0011 a0005c0020	a0001c0004t0005 a0001c0011t0016 a0005c0020t0005 a0001c0004t0005 a0001c0011t0016 a0005c0020t0005	a0001c0004t0005g0004 a0001c0011t0016g0019 a0005c0020t0005g0016 a0001c0004t0005g0004 a0001c0011t0016g0019 a0005c0020t0005g0016	3	40	0.0750	13	c.347 others(34): Show c.3476-51946_3476-51934dupTGGATGGAGTGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148351744	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0033 a0001c0006t0014g0033	1	40	0.0250	13	c.347 others(34): Show c.3476-31901_3476-31889dupAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148405420	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02897.hp1 HG02976.hp1 others(1): Show HG02451.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0015t0001g0011	4	40	0.1000	13	c.371 others(32): Show c.3716-3957_3716-3945dupTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148413392	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	40	0.0250	13	c.379 others(32): Show c.3797-2015_3797-2014insAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030798	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0030 a0004c0004t0005g0030	1	108	0.0093	13	c.391 others(32): Show c.391-17286_391-17274dupCTCTCTCTCTCTC	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP3_chr9_39059710_39293167	39068243	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	4	0.2500	13	c.56 others(24): Show c.5634_*5646dupTTTTTTTTTTTTT	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	24/24	5646		chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76274152	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0006 a0021c0037t0006	a0021c0037t0006g0171 a0021c0037t0006g0171	1	274	0.0037	13	c.-35 others(24): Show c.-3511_-3510insAAAAAAAAAAAAA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding		3248		chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76370238	G G	GTGTGGGT others(6): Show GTGTGGGTTTCATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp1 HG01884.hp2 others(17): Show HG00738.hp2 HG01433.hp1 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 NA18906.hp2 NA19030.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0021	a0001c0001 a0002c0002 a0002c0042 others(8): Show a0001c0001 a0002c0002 a0002c0042 a0003c0003 a0003c0006 a0003c0028 a0004c0007 a0006c0009 a0007c0013 a0013c0033 a0021c0037	a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 others(14): Show a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 a0002c0042t0008 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0011 a0003c0003t0030 a0003c0006t0005 a0003c0028t0005 a0004c0007t0004 a0006c0009t0001 a0007c0013t0002 a0013c0033t0002 a0021c0037t0006	a0001c0001t0004g0172 a0001c0001t0006g0052 a0002c0002t0002g0167 others(17): Show a0001c0001t0004g0172 a0001c0001t0006g0052 a0002c0002t0002g0167 a0002c0042t0008g0036 a0003c0003t0004g0270 a0003c0003t0005g0047 a0003c0003t0006g0264 a0003c0003t0006g0268 a0003c0003t0007g0259 a0003c0003t0011g0243 a0003c0003t0011g0244 a0003c0003t0011g0246 a0003c0003t0030g0245 a0003c0006t0005g0131 a0003c0028t0005g0274 a0004c0007t0004g0055 a0006c0009t0001g0251 a0007c0013t0002g0210 a0013c0033t0002g0050 a0021c0037t0006g0171	20	274	0.0730	13	c.390 others(32): Show c.390+14732_390+14744dupGGTTTCATATGTG	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76383353	T T	TGCCAAAG others(6): Show TGCCAAAGAATCAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0204 a0002c0002t0010g0204	1	274	0.0037	13	c.390 others(32): Show c.390+27849_390+27850insAATCAAGCCAAAG	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0237 a0003c0003t0027g0237	1	274	0.0037	13	c.133 others(32): Show c.1334-1182_1334-1181insAAATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03195.hp2 HG00738.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0163 a0002c0002t0002g0167 a0001c0001t0005g0163 a0002c0002t0002g0167	2	274	0.0073	13	c.133 others(32): Show c.1334-1182_1334-1181insATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124084924	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02145.hp2 HG02257.hp2 others(4): Show HG00423.hp2 HG02145.hp2 HG02257.hp2 HG02698.hp1 HG03130.hp2 HG03486.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0002t0002 a0002c0008t0001	a0001c0001t0001g0010 a0001c0001t0002g0027 a0001c0001t0004g0052 others(4): Show a0001c0001t0001g0010 a0001c0001t0002g0027 a0001c0001t0004g0052 a0001c0001t0005g0040 a0001c0001t0018g0021 a0001c0002t0002g0034 a0002c0008t0001g0038	7	64	0.1094	13	c.82+ others(30): Show c.82+59195_82+59207dupTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124222653	A A	ATGGATAT others(6): Show ATGGATATCTAATG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0052 a0001c0002t0007g0009 a0001c0001t0004g0052 a0001c0002t0007g0009	2	64	0.0313	13	c.187 others(28): Show c.187+844_187+845insTGGATATCTAATG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	2/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419140	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	1	64	0.0156	13	c.529 others(30): Show c.529+1561_529+1573dupAAAAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419152	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	64	0.0156	13	c.529 others(30): Show c.529+1573_529+1574insACAAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124451051	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	64	0.0156	13	c.918 others(30): Show c.918+4114_918+4115insTATATATATATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0017 a0003c0007t0001g0017	1	64	0.0156	13	c.164 others(34): Show c.1649+13728_1649+13740dupTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43728049	A A	AGCGGGGG others(6): Show AGCGGGGGTGGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	384	0.0026	13	c.-39 others(30): Show c.-39+1379_-39+1380insCCCCCACCCCCGC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42801510	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	13	c.-28 others(24): Show c.-2830_-2829insATATATATATATT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2807		chr17	TogoVar
COA3_chr17_42792625_42803704	42801547	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	310	0.0032	13	c.-28 others(24): Show c.-2867_-2866insATATATATATATA	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2844		chr17	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00544.hp2 others(61): Show HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00738.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp1 HG02683.hp2 HG02738.hp2 HG02896.hp2 HG03017.hp1 HG03453.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0003c0003t0002	a0001c0001t0001g0117 a0001c0001t0001g0173 a0001c0001t0002g0002 others(36): Show a0001c0001t0001g0117 a0001c0001t0001g0173 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0009g0015 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0110 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0002g0138 a0002c0002t0008g0012 a0003c0003t0002g0002	64	406	0.1576	13	c.-30 others(24): Show c.-3055_-3054insTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COBLL1_chr2_164675188_164846823	164801438	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19240.hp1 HG02896.hp1 NA19240.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0013 a0001c0001 a0021c0013	a0001c0001t0002 a0021c0013t0002 a0001c0001t0002 a0021c0013t0002	a0001c0001t0002g0108 a0021c0013t0002g0116 a0001c0001t0002g0108 a0021c0013t0002g0116	2	212	0.0094	13	c.41+ others(30): Show c.41+39705_41+39717dupTTTTTTTTTTTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51058554	A A	ACAACAAC others(6): Show ACAACAACAACAAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0068 a0003c0011t0001g0068	1	230	0.0044	13	c.109 others(34): Show c.1097-14863_1097-14862insGTTGTTGTTGTTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51070425	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0018 a0018	a0018c0039 a0018c0039	a0018c0039t0002 a0018c0039t0002	a0018c0039t0002g0137 a0018c0039t0002g0137	1	230	0.0044	13	c.109 others(34): Show c.1096+14740_1096+14741insGTGTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0026 a0026	a0026c0061 a0026c0061	a0026c0061t0001 a0026c0061t0001	a0026c0061t0001g0024 a0026c0061t0001g0024	1	230	0.0044	13	c.958 others(32): Show c.958-12921_958-12920insAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51281085	T T	TGAAAACT others(6): Show TGAAAACTTAGTAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0002 a0004c0025t0002	a0004c0025t0002g0015 a0004c0025t0002g0015	1	230	0.0044	13	c.41+ others(30): Show c.41+35495_41+35507dupTTACTAAGTTTTC	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02572.hp2 others(9): Show HG01081.hp2 HG01255.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG03130.hp2 HG03688.hp1 HG03704.hp2 HG04204.hp1 NA19030.hp1 NA19030.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0120 others(9): Show a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0001t0001g0209 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0001t0001g0365 a0001c0001t0002g0237 a0001c0001t0010g0292 a0002c0002t0001g0311	12	478	0.0251	13	c.629 others(30): Show c.629+1401_629+1413dupTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03491.hp1 HG00738.hp1 HG03491.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0002 a0008c0010t0001 a0001c0001t0002 a0008c0010t0001	a0001c0001t0002g0102 a0008c0010t0001g0309 a0001c0001t0002g0102 a0008c0010t0001g0309	2	478	0.0042	13	c.52 others(24): Show c.5262_*5263insAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp2 NA18947.hp1 others(7): Show HG02015.hp2 HG02080.hp2 NA18947.hp1 NA18953.hp1 NA18955.hp1 NA18988.hp1 NA18991.hp1 NA19007.hp1 NA19009.hp1 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0013 a0002c0001t0001g0030 a0002c0001t0001g0049 others(3): Show a0002c0001t0001g0013 a0002c0001t0001g0030 a0002c0001t0001g0049 a0002c0001t0001g0055 a0002c0001t0001g0064 a0002c0001t0001g0068	10	428	0.0234	13	c.273 others(28): Show c.2730-79_2730-67dupAAAAAAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG3_chr13_45459939_45541701	45486325	C C	CGGGAGAC others(6): Show CGGGAGACGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0028 a0002c0004t0001g0028	1	342	0.0029	13	c.844 others(28): Show c.844-169_844-157dupGGGAGACGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45489262	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG01106.hp2 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0321 a0001c0002t0001g0298 a0001c0002t0001g0321	2	342	0.0059	13	c.925 others(30): Show c.925-1647_925-1635dupAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0194 a0001c0013t0004g0194	1	342	0.0029	13	c.159 others(32): Show c.1595-1605_1595-1593dupAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45525582	C C	CTTAAATG others(6): Show CTTAAATGTAAATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(93): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02965.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0002 a0001c0011 a0006c0018 others(1): Show a0001c0002 a0001c0011 a0006c0018 a0007c0017	a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0009 a0001c0011t0001 a0006c0018t0001 a0007c0017t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0203 others(91): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0007g0305 a0001c0002t0009g0279 a0001c0011t0001g0246 a0006c0018t0001g0309 a0007c0017t0001g0285	96	342	0.2807	13	c.223 others(30): Show c.2230+531_2230+532insTTAAATGTAAATT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22			chr13	TogoVar
COG3_chr13_45459939_45541701	45525634	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp2 HG00738.hp2 others(19): Show HG00438.hp1 HG00639.hp2 HG00738.hp2 HG01433.hp2 HG02165.hp2 HG02698.hp1 HG02818.hp2 HG03239.hp1 HG03579.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18944.hp2 NA18966.hp1 NA18977.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0059 others(19): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0008t0001g0042 a0001c0008t0001g0121	22	342	0.0643	13	c.223 others(30): Show c.2230+589_2230+601dupTTTTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70504609	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01934.hp1 HG02683.hp2 others(1): Show HG01516.hp1 HG01934.hp1 HG02683.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 others(1): Show a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246	4	354	0.0113	13	c.106 others(32): Show c.1062-3531_1062-3519dupTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01496.hp2 HG01884.hp1 others(3): Show HG01081.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02970.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0004 a0005c0005t0003 a0001c0001t0003 a0001c0001t0004 a0005c0005t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0062 others(3): Show a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0062 a0001c0001t0003g0200 a0001c0001t0004g0091 a0005c0005t0003g0015	6	370	0.0162	13	c.-40 others(24): Show c.-4050_-4049insTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar

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