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
ATP10A_chr15_25673712_25868327	25758337	A A	ACTCATTC others(201): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	300	0.0033	208	c.655 others(227): Show c.655-22197_655-22196insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758432	T T	TCACCTGC others(201): Show TCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT CATTCCGAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	300	0.0033	208	c.655 others(227): Show c.655-22292_655-22291insGTCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGG AGCAGGTGATCGGAATGAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653349	G G	GTAGTACA others(201): Show GTAGTACATATACATACGTACGTACATACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATAGTACATATACATACGTACGTACATAGTACATATACATACGTAC GTACATACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0019 a0001c0008t0019	a0001c0008t0019g0030 a0001c0008t0019g0030	1	236	0.0042	208	c.676 others(225): Show c.676-4094_676-4093insTGTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTATGTACGTACGTATGTATATGTACTA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(201): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	254	0.0039	208	c.39+ others(225): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804305	T T	TCCTCCTT others(201): Show TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGC CCTCCTTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	254	0.0039	208	c.163 others(223): Show c.163-605_163-604insCTTCCCCTCCTTCCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACC TCCCTCCCCCCATCCCCTCTCTGCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN7L1_chr7_105599772_105881599	105733772	G G	GTCCACCC others(201): Show GTCCACCCATCCATCCACCCATCCATCCATTCATCCATCCACCCATCCAT CCATTCATCCATCCACCCATCCATCCATCCTTCCATCCATCCACCCAACC ACCCATCCTTCCATCCATCCACCCAACCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCTATGCTTCCATCCATCCACCCATCCATCC ATTCATCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp2 HG01884.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0055 a0001c0001t0021 a0001c0001t0055	a0001c0001t0021g0130 a0001c0001t0055g0252 a0001c0001t0021g0130 a0001c0001t0055g0252	2	252	0.0079	208	c.355 others(227): Show c.355+54831_355+54832insTGGATGAATGGATGGATGGGTGGATG GATGGAAGCATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGG TGGGTGGTTGGGTGGATGGATGGAAGGATGGGTGGTTGGGTGGATGGATG GAAGGATGGATGGATGGGTGGATGGATGAATGGATGGATGGGTGGATGGA TGAATGGATGGATGGGTGGATGGATGGGTGGA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	G G	GTCCGCGT others(201): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCC CTCCCACCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 NA19043.hp2 HG02818.hp2 HG02896.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0001c0006t0011 a0003c0030t0011 a0001c0006t0001 a0001c0006t0011 a0003c0030t0011	a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140 a0001c0006t0001g0016 a0001c0006t0011g0027 a0003c0030t0011g0140	3	266	0.0113	208	c.459 others(225): Show c.459+1037_459+1038insGGGTGGGAGGGCGAGCTCAGGAATCCCA CACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGG ACTGCAGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCAG AGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGG GAGGGCGGGCTCAGGAATCCCACACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	298	0.0034	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCT CCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGGGGAGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGTGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(25): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01169.hp2 HG01516.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02148.hp2 HG02723.hp2 HG02896.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp2 NA18985.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0003 a0001c0004 a0003c0010 others(1): Show a0001c0003 a0001c0004 a0003c0010 a0008c0015	a0001c0003t0003 a0001c0004t0003 a0001c0004t0010 others(2): Show a0001c0003t0003 a0001c0004t0003 a0001c0004t0010 a0003c0010t0003 a0008c0015t0003	a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 others(24): Show a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0272 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0004t0003g0263 a0001c0004t0003g0265 a0001c0004t0003g0267 a0001c0004t0003g0268 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0273 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0286 a0001c0004t0010g0001 a0003c0010t0003g0295 a0003c0010t0003g0296 a0008c0015t0003g0278	28	298	0.0940	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(201): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGG GGGAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGG GAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATG GACTGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	298	0.0034	208	c.51+ others(221): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCCCCT CCCTCCCCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(201): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCT GTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(31): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG02027.hp1 HG02135.hp1 HG02273.hp2 HG02451.hp2 HG02630.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 NA18747.hp2 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19063.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0045 a0001c0001t0046 a0001c0003t0001 a0001c0003t0004 a0002c0002t0002 a0002c0002t0032 a0002c0005t0002	a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0105 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0003g0103 a0001c0001t0003g0116 a0001c0001t0003g0142 a0001c0001t0003g0161 a0001c0001t0003g0166 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0008g0057 a0001c0001t0009g0054 a0001c0001t0012g0337 a0001c0001t0045g0351 a0001c0001t0046g0346 a0001c0003t0001g0107 a0001c0003t0001g0180 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0225 a0001c0003t0004g0108 a0002c0002t0002g0095 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0127 a0002c0002t0002g0169 a0002c0002t0002g0267 a0002c0002t0002g0278 a0002c0002t0002g0357 a0002c0002t0032g0128 a0002c0005t0002g0284	34	376	0.0904	208	c.131 others(223): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(201): Show TTATATATATTATATATATATTTATATATATATAATATATATATTTTTAT ATATATATATTATATATATATTTATATATATATATTATATATATATTTAT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATTATATATATATTTATATATATATATATTATATATAT ATTTATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	216	0.0046	208	c.-2- others(225): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATATAAATATATATAATATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATAAAAATATATATATTAT ATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517423	T T	TTTCCTGC others(201): Show TTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCCATCAGT CACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCCCTCATCA GTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCTCAT CAGTCATTTCCTGCTCTATGGTCTCAATCCCCCTTCAGGCCGACCCCCCC ATCAGTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0260 a0001c0001t0120g0260	1	319	0.0031	208	c.410 others(225): Show c.410-3008_410-3007insGTGACTGATGGGGGGGTCGGCCTGAAGG GGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTGAA GGGGGATTGAGACCATAGAGCAGGAAATGACTGATGAGGGGGTCGGCCTG AAGGGGGATGGAGACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCC TGAAGGGGGATTGAGACCATAGAGCAGGAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(201): Show ATATATTTATAATAAATATATAATATATATTTATAATAAATATATATTAT ATATTTATTATAAATATTATATATTATATATTATATTTATAATAAATATT ATATATTATATATTATATTTATAATAAATATTATATATTATATATTATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18998.hp2 NA18969.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0215 a0001c0002t0005g0111 a0001c0002t0002g0215 a0001c0002t0005g0111	2	290	0.0069	208	c.426 others(227): Show c.426+35676_426+35677insATAATATATATTTATAATAAATATAT ATTATATATTTATTATAAATATTATATATTATATATTATATTTATAATAA ATATTATATATTATATATTATATTTATAATAAATATTATATATTATATAT TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTGTGTGT others(201): Show GTGTGTGTATATATACCCATGGGTATATATATATATATATATATATATAT ACCCATGGGTATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATACCCATGGGTATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0002 a0001c0016t0003g0002	2	386	0.0052	208	c.-81 others(227): Show c.-81-13455_-81-13454insGTGTGTATATATACCCATGGGTATAT ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATATATACCCATGGGTAT ATATATATATATATATATATATATACCCATGGGTATATATATATATATAT ATATATACCCATGGGTATATATATATATATAT	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(201): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATATATATAT ACCCATGGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0207 a0001c0002t0008g0207	1	386	0.0026	208	c.-81 others(227): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATATA TACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTRC_chr10_101349165_101562313	101366918	T T	TTATATAT others(201): Show TTATATATATATTTATATATAAATATATATTTATATATATTAATATATAT TAATATATATTTTTATATATTTATATATTTATATATATTAATATATATAT TTATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATATTTATATATATATTTATATATTTATATATATTT ATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0072 a0001c0001t0011g0072	1	266	0.0038	208	c.48+ others(225): Show c.48+12699_48+12700insATTTATATATAAATATATATTTATATAT ATTAATATATATTAATATATATTTTTATATATTTATATATTTATATATAT TAATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATTTATATATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C11orf21_chr11_2290628_2306918	2306799	A A	AAGGAGGG others(201): Show AAGGAGGGAAAAGGGGGGAGAAGGGAGAGGGAGAGGGGGAGGGAGAGGGA GGGGGAGGGGGGAGAAGAAGGAGGGAGGGGGAGAAGGGAAGAGGAGGGAG AAGGAGGGAGGACAAGGGAGGAGGAGATGGAGGAGGGGGAAGGAGGAGGA AAAAGAGGAAAGAAGGTGAGGAGAAGAAAGAGGGGGAGGGTGGAGGGAGG AGGAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	426	0.0047	208	c.-49 others(219): Show c.-4992_-4991insCTTCCTCCTCCTCCCTCCACCCTCCCCCTCTTTC TTCTCCTCACCTTCTTTCCTCTTTTTCCTCCTCCTTCCCCCTCCTCCATC TCCTCCTCCCTTGTCCTCCCTCCTTCTCCCTCCTCTTCCCTTCTCCCCCT CCCTCCTTCTTCTCCCCCCTCCCCCTCCCTCTCCCTCCCCCTCTCCCTCT CCCTTCTCCCCCCTTTTCCCTCCT	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4882		chr11	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(201): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACC TCTGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG02071.hp1 others(5): Show HG00639.hp1 HG01106.hp2 HG02071.hp1 HG02615.hp1 HG02809.hp2 HG03195.hp2 NA18952.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0117 a0001c0001t0004g0132 a0001c0001t0007g0131 others(4): Show a0001c0001t0001g0117 a0001c0001t0004g0132 a0001c0001t0007g0131 a0001c0003t0001g0002 a0002c0002t0001g0038 a0002c0002t0006g0133 a0002c0002t0006g0134	8	446	0.0179	208	c.-33 others(219): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTG AGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCT TGGCTCACTGCAACCTCTGCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TATGTATA others(201): Show TATGTATACATATCTGTATACATATCTGTATACATATGTATACATATCTG TATACATATGTATACATATCTGTATACATATGTATACATATCTGTATACA TATGTATACAGATCTGTATACATATGTATACAGATCTGTATACATATGTA TACATATCTGTATACATATGTATACATATCTGTATACATATGTATACATA TCTGTATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0027 a0005c0006t0002g0027	1	342	0.0029	208	c.366 others(225): Show c.366+3806_366+3807insGTATACAGATATGTATACATATGTATAC AGATATGTATACATATGTATACAGATATGTATACATATGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTATACAGATATGTATAC ATATGTATACAGATATGTATACATATGTATACAGATATGTATACATATGT ATACAGATATGTATACAGATATGTATACAT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176941	C C	CTGTATAC others(201): Show CTGTATACATATGTATACATATCTGTATACATATGTATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTATACATATCTGTATACATAT GTATACATATCTGTATACATATGTATACATATCTGTATACATATGTATAC ATATCTGTATACATATGTATACATATCTGTATACATATGTATACATATCT GTATACATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	342	0.0029	208	c.366 others(225): Show c.366+3803_366+3804insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATACATA TGTATACAGATATGTATACATATGTATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1089920	T T	TAAAAATA others(201): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0163 a0001c0001t0007g0163	1	326	0.0031	208	c.129 others(227): Show c.129+37336_129+37337insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(201): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0300 a0010c0024t0001g0300	1	338	0.0030	208	c.300 others(225): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(201): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0176 a0002c0013t0001g0176	1	338	0.0030	208	c.300 others(225): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191190	C C	CTCTGACC others(201): Show CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 NA18906.hp1 HG02145.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0032 a0001c0041 a0001c0032 a0001c0041	a0001c0032t0021 a0001c0041t0001 a0001c0032t0021 a0001c0041t0001	a0001c0032t0021g0265 a0001c0032t0021g0266 a0001c0041t0001g0220 a0001c0032t0021g0265 a0001c0032t0021g0266 a0001c0041t0001g0220	3	338	0.0089	208	c.300 others(225): Show c.300-3779_300-3778insGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTG TGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTCGGGGTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM1_chr11_115164236_115509415	115328696	A A	ATATGTAT others(201): Show ATATGTATATACATATATACGCGTATATATATGTATATACATATATACGC GTATATATATGTATATACATATATATACGCGTATATATATGTATATACAT ATATACGCGTATATATATGTATATACATATATATACGCGTATATATATGT ATATACATATATATACGCGTATATATATGTATATACATATATATACGCGT ATATATATG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	164	0.0061	208	c.125 others(227): Show c.125-88277_125-88276insCATATATATACGCGTATATATATGTA TATACATATATATACGCGTATATATATGTATATACATATATATACGCGTA TATATATGTATATACATATATATACGCGTATATATGTATATACATATATA TACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATA CATATATATACGCGTATATATGTATATACATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(201): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATACG CGTATATATATGTATATACATATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATATGTATATACATATATATACGCGTATATATA TGTATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01255.hp2 others(17): Show HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG02071.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG03209.hp1 HG03209.hp2 HG04115.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0055 a0001c0001t0064	a0001c0001t0001g0057 a0001c0001t0001g0093 a0001c0001t0001g0111 others(17): Show a0001c0001t0001g0057 a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0002g0107 a0001c0001t0002g0148 a0001c0001t0004g0026 a0001c0001t0004g0076 a0001c0001t0006g0013 a0001c0001t0010g0084 a0001c0001t0012g0021 a0001c0001t0012g0063 a0001c0001t0012g0102 a0001c0001t0020g0114 a0001c0001t0020g0115 a0001c0001t0030g0098 a0001c0001t0041g0140 a0001c0001t0042g0142 a0001c0001t0048g0059 a0001c0001t0055g0128 a0001c0001t0064g0152	20	164	0.1220	208	c.125 others(227): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATGTATATACATATATATACGCGTATATATGT ATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACATGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	262	0.0038	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACATGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02145.hp1 HG02622.hp1 others(2): Show HG01516.hp2 HG02145.hp1 HG02622.hp1 HG02965.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0013 a0002c0002t0001g0042 a0002c0002t0001g0068 others(2): Show a0002c0002t0001g0013 a0002c0002t0001g0042 a0002c0002t0001g0068 a0002c0002t0001g0077 a0002c0002t0002g0231	5	262	0.0191	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0233 a0002c0003t0001g0233	1	262	0.0038	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACATACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0232 a0002c0003t0001g0232	1	262	0.0038	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACATACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACATACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	262	0.0038	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACATACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387381	T T	TTATATTT others(201): Show TTATATTTTATATATATAATATATATATTATATATTATATTTTATATATA TAATATATATATTATATATATTTTATATATATAATATATATATTATATAT ATTTTATATATATAATATATATATTATATATTATATTTTATATATATAAT ATATATATTATATATATTTTATATATAATATATATATTATATATATTTTA TATATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG06807.hp2 HG02809.hp1 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0105 a0001c0001t0106 a0001c0001t0085 a0001c0001t0105 a0001c0001t0106	a0001c0001t0085g0110 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0085g0110 a0001c0001t0105g0111 a0001c0001t0106g0109	3	214	0.0140	208	c.92+ others(225): Show c.92+37476_92+37477insTTTATATATATAATATATATATTATATA TTATATTTTATATATATAATATATATATTATATATATTTTATATATATAA TATATATATTATATATATTTTATATATATAATATATATATTATATATTAT ATTTTATATATATAATATATATATTATATATATTTTATATATAATATATA TATTATATATATTTTATATATATAATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12520921	A A	AAGAGGGA others(201): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	214	0.0047	208	c.93- others(225): Show c.93-32304_93-32303insAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATATGTGT others(201): Show ATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	366	0.0027	208	c.645 others(225): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38736017	G G	GGCGGGGG others(201): Show GGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGG GGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTT CTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0072 a0002c0004t0001g0072	1	342	0.0029	208	c.158 others(223): Show c.1583+92_1583+93insTGACCTGCCCCGCTCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAGAACCAC CGCCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCC GCAGAACCACCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGA ACCCCCGCCCCGCCCCCAGAACCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736026	G G	GGCGGGGC others(201): Show GGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGG GGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0075 a0002c0004t0001g0075	1	342	0.0029	208	c.158 others(223): Show c.1583+83_1583+84insTGACCTGCCCCGCTCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCC GCAGAACCACCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCC CGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCCAGAACCCCCGCCC CGCCCCGCCCCCAGAACCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(201): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC TCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0043 a0001c0006t0001g0043	1	410	0.0024	208	c.-22 others(225): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00621.hp1 HG01069.hp1 HG01071.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	4	410	0.0098	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	410	0.0024	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02165.hp2 HG01891.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0176 a0001c0001t0001g0003 a0001c0001t0001g0176	2	410	0.0049	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18984.hp2 HG01934.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0001g0049 a0001c0001t0002g0002	2	410	0.0049	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293540	C C	CCACCTTC others(201): Show CCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCT GCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGT CCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCACAGCTC ACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCT GCCACAGCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0260 a0001c0009t0002g0260	1	284	0.0035	208	c.411 others(225): Show c.4112+632_4112+633insAGCTGTGGCAGGCGAGGGGGCAGGAAGG TGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGG GGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGG CAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGGAAGG TGGGCCGTGGCAGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(201): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 NA19091.hp1 others(1): Show HG01496.hp1 HG01943.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0138 a0001c0001t0003g0275	4	284	0.0141	208	c.411 others(225): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(201): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0253 a0006c0012t0001g0253	1	284	0.0035	208	c.411 others(225): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(201): Show AGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGATGAGGGGACA TCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAG TAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGG GGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCA GAGAGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(60): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02129.hp2 HG02132.hp2 HG02602.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03688.hp2 HG04184.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp2 NA18956.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19078.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0012 others(1): Show a0001c0001 a0001c0002 a0006c0012 a0007c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0006c0012t0001 a0007c0014t0001	a0001c0001t0001g0191 a0001c0002t0001g0013 a0001c0002t0001g0014 others(59): Show a0001c0001t0001g0191 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0314 a0001c0002t0002g0001 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0006c0012t0001g0196 a0007c0014t0001g0165	63	316	0.1994	208	c.32 others(219): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGACATCAGAA GGTGATGAGGGGACATCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGA GGGGACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACAT CAGAAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGT GGTGAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(201): Show AGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGATGAGGGGACA TCAGAATGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAG TAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGG GGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCA GAGAGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	316	0.0032	208	c.32 others(219): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGACATCAGAA GGTGATGAGGGGACATCAGAATGCGGTGAGGGGACACCAGAGAGTAATGA GGGGACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACAT CAGAAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGT GGTGAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCSER2_chr10_84323589_84523517	84501835	A A	AAATATAT others(201): Show AAATATATATATATATATATATACTCATATATATATATATACTCATATAT ATATATATATATACTCATATATATATATACTCATATATATATATACTCAT ATATATATATACTCATATATATATATATATATATATACTCATATATATAT ATATATATATATACTCATATATATATATATATATACTCATATATATATAT ATATATACT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0043 a0003c0004t0007g0043	1	370	0.0027	208	c.232 others(229): Show c.2326-11614_2326-11613insAATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATACTCATATATATATA TATATATATATACTCATATATATATATATATATATATACTCATATATATA TATATATATACTCATATATATATATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(201): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAAT AGTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTTTT AAATAAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0313 a0015c0020t0001g0313	1	384	0.0026	208	c.125 others(225): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATA GTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar

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