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
CNTNAP5_chr2_124020287_124926219	124721482	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	64	0.0156	-12	c.207 others(33): Show c.2078-25729_2078-25718delAATAAATAAATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124773939	TGTGTGTG others(5): Show TGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	-12	c.275 others(29): Show c.2752+924_2752+935delTGTGTGTGAGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124773941	TGTGTGTG others(5): Show TGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02922.hp2 others(3): Show HG02145.hp2 HG02723.hp2 HG02922.hp2 HG02970.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0002c0008t0001	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0064 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0064 a0001c0002t0002g0060 a0001c0002t0007g0009 a0002c0008t0001g0038	6	64	0.0938	-12	c.275 others(29): Show c.2752+926_2752+937delTGTGTGAGAGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124777775	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02886.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02886.hp2 HG03098.hp1 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0001 a0001c0002t0006 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0017g0012 a0001c0002t0001g0063 others(2): Show a0001c0001t0001g0002 a0001c0001t0017g0012 a0001c0002t0001g0063 a0001c0002t0006g0028 a0004c0006t0001g0013	5	64	0.0781	-12	c.275 others(31): Show c.2752+4796_2752+4807delGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786340	AAAGAAAG others(5): Show AAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0008 a0005c0005t0001g0008	1	64	0.0156	-12	c.275 others(31): Show c.2753-3550_2753-3539delGAAGAAAGAAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786390	AGAAAGAA others(5): Show AGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	64	0.0156	-12	c.275 others(31): Show c.2753-3508_2753-3497delAGAAAGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786394	AGAAAGAA others(5): Show AGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA20129.hp2 HG02698.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0006g0025 a0001c0001t0001g0020 a0001c0001t0006g0025	2	64	0.0313	-12	c.275 others(31): Show c.2753-3504_2753-3493delAGAAGGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124809380	GTATTTAT others(5): Show GTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03130.hp1 others(4): Show HG02257.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0003 a0001c0001 a0001c0002 a0006c0003	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0006c0003t0008	a0001c0001t0004g0053 a0001c0001t0005g0040 a0001c0002t0001g0016 others(4): Show a0001c0001t0004g0053 a0001c0001t0005g0040 a0001c0002t0001g0016 a0001c0002t0002g0031 a0001c0002t0005g0045 a0001c0002t0019g0051 a0006c0003t0008g0035	7	64	0.1094	-12	c.321 others(33): Show c.3217+11093_3217+11104delTATTTATTTATT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860452	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 HG03486.hp2 others(1): Show HG00423.hp2 HG01069.hp2 HG03486.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0010 a0001c0001t0002g0048 a0001c0001t0015g0036 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0048 a0001c0001t0015g0036 a0001c0001t0018g0021	4	64	0.0625	-12	c.321 others(31): Show c.3218-4814_3218-4803delCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860492	CTTCCTTC others(5): Show CTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	64	0.0156	-12	c.321 others(31): Show c.3218-4802_3218-4791delTTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124885549	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp1 HG01891.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0057 a0001c0001t0017g0012 a0001c0001t0003g0057 a0001c0001t0017g0012	2	64	0.0313	-12	c.343 others(33): Show c.3436+15816_3436+15827delCACACACACACA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124897936	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	-12	c.343 others(31): Show c.3437-4915_3437-4904delGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121070384	GATATATA others(5): Show GATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01109.hp2 others(5): Show HG00323.hp1 HG00741.hp1 HG01109.hp2 HG03831.hp2 NA18981.hp2 NA18999.hp2 NA19058.hp1 NA19072.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0003 a0002c0002 a0002c0006 a0003c0003	a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001	a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0113 others(5): Show a0002c0002t0001g0036 a0002c0002t0001g0055 a0002c0002t0001g0113 a0002c0002t0001g0306 a0002c0006t0001g0026 a0003c0003t0001g0116 a0003c0003t0001g0119 a0003c0003t0001g0268	8	330	0.0242	-12	c.-48 others(23): Show c.-4887_-4876delATATATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4570		chr9	TogoVar
CNTROB_chr17_7927206_7954920	7942787	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02630.hp2 NA19043.hp1 HG02027.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0004g0205 a0001c0001t0001g0050 a0001c0001t0004g0205	3	402	0.0075	-12	c.131 others(29): Show c.1312-583_1312-572delTTTTTTTTTTTT	CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
COA1_chr7_43634257_43734523	43691265	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	384	0.0026	-12	c.-39 others(31): Show c.-39+38152_-39+38163delCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691340	AGAGGGAG others(5): Show AGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00733.hp2 others(32): Show HG00438.hp2 HG00609.hp1 HG00733.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp2 HG02280.hp2 HG02451.hp2 HG02717.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18944.hp1 NA18960.hp2 NA18964.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 others(32): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0239 a0001c0001t0001g0240	35	384	0.0912	-12	c.-39 others(31): Show c.-39+38077_-39+38088delCCTCCCTCCCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691369	GAGGGAGG others(5): Show GAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG02109.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0236 a0001c0001t0001g0155 a0001c0001t0001g0236	2	384	0.0052	-12	c.-39 others(31): Show c.-39+38048_-39+38059delTCCTCCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691373	GAGGGAGG others(5): Show GAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0360	1	384	0.0026	-12	c.-39 others(31): Show c.-39+38044_-39+38055delTCCTTCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691421	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01099.hp2 others(24): Show HG00438.hp2 HG01069.hp2 HG01099.hp2 HG01192.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG02004.hp2 HG02132.hp1 HG02165.hp2 HG02738.hp1 HG02886.hp1 HG02897.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 NA18946.hp2 NA18955.hp1 NA18973.hp1 NA18988.hp2 NA18994.hp1 NA19000.hp2 NA19043.hp1 NA19079.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(24): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0238 a0001c0001t0001g0275	27	384	0.0703	-12	c.-39 others(31): Show c.-39+37996_-39+38007delCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42799752	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-12	c.-10 others(23): Show c.-1083_-1072delTTTTTTTTTTTT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		1049		chr17	TogoVar
COA3_chr17_42792625_42803704	42801537	ATATATAT others(5): Show ATATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02080.hp2 HG02300.hp1 HG01175.hp1 HG02080.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	310	0.0097	-12	c.-28 others(23): Show c.-2868_-2857delATTATATATATA	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2834		chr17	TogoVar
COA4_chr11_73867667_73881846	73878520	AAGTGAGC others(5): Show AAGTGAGCTCACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	394	0.0025	-12	c.-17 others(23): Show c.-1792_-1781delAGTGAGCTCACT	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		1675		chr11	TogoVar
COA4_chr11_73867667_73881846	73880687	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	-12	c.-39 others(23): Show c.-3959_-3948delTTTTTTTTTTTT	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		3842		chr11	TogoVar
COA6_chr1_234368456_234390080	234370412	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	406	0.0025	-12	c.-30 others(23): Show c.-3054_-3043delTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA7_chr1_52679449_52703347	52695297	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	416	0.0024	-12	c.107 others(29): Show c.107-2442_107-2431delTTTTTTTTTTTT	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding	1/2			chr1	TogoVar
COASY_chr17_42557148_42571277	42561005	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(143): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0006c0005 others(1): Show a0001c0001 a0001c0003 a0006c0005 a0007c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0006c0005t0001 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0003g0002 a0001c0001t0004g0002 a0001c0001t0007g0002 a0001c0001t0008g0002 a0001c0003t0001g0002 a0006c0005t0001g0002 a0007c0006t0001g0011	146	394	0.3706	-12	c.-16 others(23): Show c.-1617_-1606delTTTTTTTTTTTT	COASY	ENSG00000068120.15	transcript	ENST00000393818.3	protein_coding		1142		chr17	TogoVar
COBLL1_chr2_164675188_164846823	164725123	TATATATA others(5): Show TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp2 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0007 a0001c0002t0004g0008	2	212	0.0094	-12	c.662 others(29): Show c.662-2613_662-2602delTTATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164776329	GCCCCTTC others(5): Show GCCCCTTCATCAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0137 a0007c0009t0001g0137	1	212	0.0047	-12	c.42- others(29): Show c.42-32466_42-32455delTTGATGAAGGGG	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00733.hp1 others(61): Show HG00140.hp1 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG03710.hp1 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18965.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0014 a0015 a0020 a0021	a0001c0001 a0001c0002 a0001c0024 others(9): Show a0001c0001 a0001c0002 a0001c0024 a0001c0033 a0002c0003 a0002c0030 a0003c0007 a0004c0005 a0014c0031 a0015c0028 a0020c0026 a0021c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0034 a0001c0002t0051 a0001c0002t0057 a0001c0024t0028 a0001c0033t0008 a0002c0003t0003 a0002c0003t0024 a0002c0030t0022 a0003c0007t0006 a0004c0005t0015 a0014c0031t0022 a0015c0028t0016 a0020c0026t0008 a0021c0013t0002	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0026 others(61): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0074 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0007g0210 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0027g0188 a0001c0001t0029g0179 a0001c0001t0033g0052 a0001c0001t0039g0027 a0001c0001t0043g0046 a0001c0001t0044g0173 a0001c0002t0001g0044 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0002g0174 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0186 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0011g0187 a0001c0002t0011g0201 a0001c0002t0013g0028 a0001c0002t0013g0053 a0001c0002t0034g0034 a0001c0002t0051g0003 a0001c0002t0057g0183 a0001c0024t0028g0192 a0001c0033t0008g0180 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0097 a0002c0003t0003g0100 a0002c0003t0003g0102 a0002c0003t0024g0101 a0002c0030t0022g0172 a0003c0007t0006g0048 a0004c0005t0015g0110 a0014c0031t0022g0181 a0015c0028t0016g0205 a0020c0026t0008g0033 a0021c0013t0002g0116	64	212	0.3019	-12	c.42- others(29): Show c.42-45157_42-45146delGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805287	GTCTCTCT others(5): Show GTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG02717.hp2 others(2): Show HG00597.hp2 HG00639.hp1 HG02717.hp2 NA20300.hp2 NA20805.hp1	a0002 a0017 a0002 a0017	a0002c0003 a0017c0019 a0002c0003 a0017c0019	a0002c0003t0003 a0017c0019t0001 a0002c0003t0003 a0017c0019t0001	a0002c0003t0003g0073 a0002c0003t0003g0097 a0002c0003t0003g0099 others(2): Show a0002c0003t0003g0073 a0002c0003t0003g0097 a0002c0003t0003g0099 a0002c0003t0003g0102 a0017c0019t0001g0086	5	212	0.0236	-12	c.41+ others(29): Show c.41+35857_41+35868delGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805327	CTCTCTCT others(5): Show CTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp1 others(4): Show HG00099.hp2 HG01069.hp2 HG01071.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0003 a0002c0003t0023	a0001c0001t0001g0080 a0001c0001t0002g0074 a0002c0003t0003g0078 others(3): Show a0001c0001t0001g0080 a0001c0001t0002g0074 a0002c0003t0003g0078 a0002c0003t0003g0079 a0002c0003t0003g0096 a0002c0003t0023g0001	7	212	0.0330	-12	c.41+ others(29): Show c.41+35817_41+35828delTAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805329	CTCTCTCT others(5): Show CTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02886.hp2 NA19043.hp2 HG01515.hp1 HG02886.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0077 a0002c0003t0003g0100 a0002c0003t0003g0104 a0002c0003t0003g0077 a0002c0003t0003g0100 a0002c0003t0003g0104	3	212	0.0142	-12	c.41+ others(29): Show c.41+35815_41+35826delTATAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822734	ATATTATT others(5): Show ATATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG02486.hp2 others(3): Show HG01106.hp1 HG01261.hp2 HG02486.hp2 HG04228.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0003 a0003c0007 others(1): Show a0001c0001 a0002c0003 a0003c0007 a0014c0031	a0001c0001t0001 a0001c0001t0014 a0001c0001t0050 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0050 a0002c0003t0003 a0003c0007t0006 a0014c0031t0022	a0001c0001t0001g0015 a0001c0001t0014g0019 a0001c0001t0050g0020 others(3): Show a0001c0001t0001g0015 a0001c0001t0014g0019 a0001c0001t0050g0020 a0002c0003t0003g0025 a0003c0007t0006g0050 a0014c0031t0022g0181	6	212	0.0283	-12	c.41+ others(29): Show c.41+18410_41+18421delATAATAATAATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018265	GTGGTGAT others(5): Show GTGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18981.hp2 NA19003.hp2 NA18951.hp2 NA18981.hp2 NA19003.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0001c0004t0001 a0003c0001t0001	a0001c0004t0001g0141 a0001c0004t0001g0225 a0003c0001t0001g0199 a0001c0004t0001g0141 a0001c0004t0001g0225 a0003c0001t0001g0199	3	230	0.0130	-12	c.376 others(29): Show c.3769-709_3769-698delTCACCATCACCA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51018901	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0042 a0012c0024t0001g0042	1	230	0.0044	-12	c.376 others(31): Show c.3769-1345_3769-1334delATATATATTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51018903	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0114 a0010c0030t0001g0114	1	230	0.0044	-12	c.376 others(31): Show c.3769-1347_3769-1336delATATATATATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51018905	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02622.hp2 others(1): Show HG02055.hp2 HG02257.hp2 HG02622.hp2 HG03098.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0015 a0006c0008 a0001c0004 a0001c0015 a0006c0008	a0001c0004t0001 a0001c0015t0014 a0006c0008t0004 a0001c0004t0001 a0001c0015t0014 a0006c0008t0004	a0001c0004t0001g0078 a0001c0004t0001g0219 a0001c0015t0014g0013 others(1): Show a0001c0004t0001g0078 a0001c0004t0001g0219 a0001c0015t0014g0013 a0006c0008t0004g0106	4	230	0.0174	-12	c.376 others(31): Show c.3769-1349_3769-1338delATATATATATAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51024653	GTGAATGA others(5): Show GTGAATGAATGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00639.hp2 others(73): Show HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02280.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19003.hp1 NA19007.hp1 NA19055.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19085.hp1 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0023 a0025 a0026 a0027 a0028 a0031 a0032	a0001c0004 a0001c0015 a0002c0003 others(22): Show a0001c0004 a0001c0015 a0002c0003 a0002c0007 a0002c0019 a0003c0001 a0003c0011 a0004c0009 a0004c0010 a0005c0005 a0005c0006 a0007c0018 a0007c0020 a0007c0052 a0008c0013 a0008c0058 a0008c0060 a0011c0014 a0023c0033 a0025c0036 a0026c0061 a0027c0045 a0028c0043 a0031c0041 a0032c0057	a0001c0004t0001 a0001c0004t0003 a0001c0015t0001 others(34): Show a0001c0004t0001 a0001c0004t0003 a0001c0015t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0007t0001 a0002c0019t0001 a0002c0019t0002 a0003c0001t0002 a0003c0011t0002 a0004c0009t0001 a0004c0009t0002 a0004c0010t0002 a0005c0005t0001 a0005c0005t0003 a0005c0005t0008 a0005c0006t0002 a0005c0006t0003 a0007c0018t0001 a0007c0018t0003 a0007c0020t0001 a0007c0020t0003 a0007c0052t0001 a0008c0013t0003 a0008c0013t0008 a0008c0013t0015 a0008c0058t0003 a0008c0060t0008 a0011c0014t0003 a0023c0033t0001 a0025c0036t0003 a0026c0061t0001 a0027c0045t0003 a0028c0043t0001 a0031c0041t0002 a0032c0057t0003	a0001c0004t0001g0139 a0001c0004t0003g0227 a0001c0015t0001g0181 others(73): Show a0001c0004t0001g0139 a0001c0004t0003g0227 a0001c0015t0001g0181 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0023 a0002c0003t0001g0047 a0002c0003t0001g0067 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0098 a0002c0003t0001g0100 a0002c0003t0001g0124 a0002c0003t0002g0226 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0097 a0002c0007t0001g0107 a0002c0007t0001g0172 a0002c0007t0001g0176 a0002c0007t0001g0177 a0002c0007t0001g0179 a0002c0019t0001g0032 a0002c0019t0002g0120 a0003c0001t0002g0054 a0003c0001t0002g0070 a0003c0011t0002g0069 a0004c0009t0001g0014 a0004c0009t0002g0057 a0004c0009t0002g0074 a0004c0010t0002g0073 a0005c0005t0001g0084 a0005c0005t0001g0085 a0005c0005t0003g0087 a0005c0005t0003g0101 a0005c0005t0003g0117 a0005c0005t0003g0134 a0005c0005t0003g0150 a0005c0005t0003g0161 a0005c0005t0003g0204 a0005c0005t0008g0167 a0005c0006t0002g0040 a0005c0006t0003g0035 a0005c0006t0003g0036 a0005c0006t0003g0038 a0005c0006t0003g0050 a0005c0006t0003g0121 a0005c0006t0003g0184 a0005c0006t0003g0196 a0007c0018t0001g0185 a0007c0018t0003g0144 a0007c0018t0003g0171 a0007c0020t0001g0168 a0007c0020t0003g0033 a0007c0020t0003g0223 a0007c0052t0001g0072 a0008c0013t0003g0200 a0008c0013t0003g0207 a0008c0013t0003g0221 a0008c0013t0008g0110 a0008c0013t0015g0230 a0008c0058t0003g0021 a0008c0060t0008g0061 a0011c0014t0003g0145 a0011c0014t0003g0146 a0011c0014t0003g0155 a0011c0014t0003g0162 a0023c0033t0001g0064 a0025c0036t0003g0090 a0026c0061t0001g0024 a0027c0045t0003g0026 a0028c0043t0001g0201 a0031c0041t0002g0140 a0032c0057t0003g0060	76	230	0.3304	-12	c.376 others(29): Show c.3768+444_3768+455delTTCATTCATTCA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51036336	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18950.hp1 NA18975.hp1 others(1): Show HG02155.hp2 NA18950.hp1 NA18975.hp1 NA21309.hp1	a0003 a0008 a0003 a0008	a0003c0001 a0003c0011 a0008c0013 a0003c0001 a0003c0011 a0008c0013	a0003c0001t0001 a0003c0011t0001 a0008c0013t0003 a0003c0001t0001 a0003c0011t0001 a0008c0013t0003	a0003c0001t0001g0018 a0003c0001t0001g0029 a0003c0011t0001g0198 others(1): Show a0003c0001t0001g0018 a0003c0001t0001g0029 a0003c0011t0001g0198 a0008c0013t0003g0200	4	230	0.0174	-12	c.140 others(31): Show c.1407-5439_1407-5428delTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51100777	CCTGTAGT others(5): Show CCTGTAGTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0001 a0004c0046t0001	a0004c0046t0001g0048 a0004c0046t0001g0048	1	230	0.0044	-12	c.958 others(31): Show c.958-15485_958-15474delCTGGGACTACAG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51201245	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 NA18522.hp2 HG02451.hp1 HG02809.hp1 NA18522.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0015 a0006c0029 a0007c0020 a0001c0015 a0006c0029 a0007c0020	a0001c0015t0001 a0006c0029t0003 a0007c0020t0001 a0001c0015t0001 a0006c0029t0003 a0007c0020t0001	a0001c0015t0001g0169 a0006c0029t0003g0170 a0007c0020t0001g0168 a0001c0015t0001g0169 a0006c0029t0003g0170 a0007c0020t0001g0168	3	230	0.0130	-12	c.246 others(29): Show c.246-7668_246-7657delCTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51226546	GTAAGTGA others(5): Show GTAAGTGAGTGAC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18975.hp2 NA18981.hp2 others(2): Show NA18964.hp1 NA18975.hp2 NA18981.hp2 NA18988.hp1 NA19003.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001	a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 others(2): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 a0003c0001t0001	a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 others(2): Show a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 a0003c0001t0001g0228	5	230	0.0217	-12	c.42- others(27): Show c.42-6614_42-6603delGTCACTCACTTA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51307348	CAAAACAA others(5): Show CAAAACAAAAACA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0009 a0015c0027t0009	a0015c0027t0009g0075 a0015c0027t0009g0075	1	230	0.0044	-12	c.41+ others(27): Show c.41+9233_41+9244delTGTTTTTGTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0009 a0001c0005t0001 a0001c0005t0009	a0001c0005t0001g0118 a0001c0005t0009g0117 a0001c0005t0001g0118 a0001c0005t0009g0117	2	478	0.0042	-12	c.629 others(29): Show c.629+1402_629+1413delTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COG1_chr17_73188055_73213507	73192834	GCCCGCGC others(5): Show GCCCGCGCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02080.hp2 NA18906.hp1 others(1): Show HG01099.hp2 HG02080.hp2 NA18906.hp1 NA18949.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0006c0014 a0002c0001 a0006c0014	a0002c0001t0001 a0006c0014t0001 a0002c0001t0001 a0006c0014t0001	a0002c0001t0001g0013 a0002c0001t0001g0045 a0002c0001t0001g0054 others(1): Show a0002c0001t0001g0013 a0002c0001t0001g0045 a0002c0001t0001g0054 a0006c0014t0001g0046	4	428	0.0094	-12	c.-23 others(21): Show c.-235_-224delCCCGCGCCCGCC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		220		chr17	TogoVar
COG3_chr13_45459939_45541701	45500086	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0150 a0002c0005t0011g0150	1	342	0.0029	-12	c.148 others(31): Show c.1489-3156_1489-3145delGTGTGTGTATAT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45500094	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(21): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00741.hp1 HG01433.hp1 HG01516.hp2 HG01943.hp1 HG02055.hp1 HG02080.hp2 HG02451.hp2 HG02622.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG04204.hp2 NA18945.hp1 NA18977.hp2 NA18998.hp2 NA19003.hp2 NA19030.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0014t0001 a0002c0005t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(21): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0239 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0242 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0262 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0304 a0001c0002t0001g0317 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0010t0001g0128 a0001c0014t0001g0261 a0002c0005t0001g0313	24	342	0.0702	-12	c.148 others(31): Show c.1489-3139_1489-3128delTATATATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508068	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	342	0.0029	-12	c.159 others(31): Show c.1595-1604_1595-1593delAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508399	TATATACA others(5): Show TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(29): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0002 a0002c0007t0002 a0002c0003t0002 a0002c0007t0002	a0002c0003t0002g0007 a0002c0003t0002g0202 a0002c0003t0002g0208 others(28): Show a0002c0003t0002g0007 a0002c0003t0002g0202 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0003t0002g0240 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232	32	342	0.0936	-12	c.159 others(31): Show c.1595-1291_1595-1280delTATACACACACA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45521577	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0148 a0002c0005t0012g0148	1	342	0.0029	-12	c.215 others(31): Show c.2154+2497_2154+2508delACACACACACAC	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr13	TogoVar

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