Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	status	chr	external
BMAL2_chr12_27327836_27430286	27390094	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	310	0.0032	0	c.776 others(5): Show c.776-2A>G		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	8/16				chr12	TogoVar
BMAL2_chr12_27327836_27430286	27390095	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0082 a0004c0004t0011g0083 a0004c0004t0011g0082 a0004c0004t0011g0083	2	310	0.0065	0	c.776 others(5): Show c.776-1G>A		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	8/16				chr12	TogoVar
BRDT_chr1_91944401_92019421	91977038	TGTAGGTT others(20): Show TGTAGGTTACAAAAGGTGTGAAGAGGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0069 a0012c0016t0002g0069	1	318	0.0031	-27	c.619 others(36): Show c.619-4_641delGTAGGTTACAAAAGGTGTGAAGAGGAA	p.Val others(5): Show p.Val207fs	BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	6/19	619/2844	207/947		chr1	TogoVar
BRIX1_chr5_34910711_34930996	34925207	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show HG00280.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp2 NA19064.hp2 NA19080.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0002c0003t0001g0051 a0002c0003t0001g0052	80	440	0.1818	1	c.793 others(6): Show c.793-3dupT		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9			INFO_REALIGN_3_PRIME	chr5	TogoVar
BRIX1_chr5_34910711_34930996	34925223	T T	TA TA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show HG00140.hp1 HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01993.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp1 NA18967.hp1 NA18973.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19060.hp1 NA19076.hp2 NA19078.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0120	50	440	0.1136	1	c.793 others(6): Show c.793-2dupA		BRIX1	ENSG00000113460.13	transcript	ENST00000336767.6	protein_coding	9/9			INFO_REALIGN_3_PRIME	chr5	TogoVar
BSCL2_chr11_62685275_62712424	62700548	GGAGAATC others(3331): Show GGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGT GCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAA ATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTA ATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAG TTTTAGACCAGCATGACCAACATGGTGAAACCCTGTCTCTGCTAAAAATA CAAAAGTTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGGTACTCAG GAGGCTGAGGTGGGAGAATCGCTTGATCCCAGGAGTTGGAGGTTGCAGTG AAGTGAGATCGCGCCACTGCACTCCAGTCTTGGCGACAGAGCAAGACTCT GTCTCAAAAAAAAAAAAAGAACGTATCCTTTATGAGAGCCTCCTCTAGCT TGCCTACTATAGAGGGCCCAGTCCCCATATGCATTTCTCAGGGTTCCCAG GTTTGTTGACATCACACTGGCATCTGGCCAGTCCTCTGGCACAGTACCCT TTGTAATGACACGATGCATATATTTGACAACAGTTTCATAATGTTATATA AATGCTTTCAAAACTCTTGGGTAGATGCCCATCTTATTCCAATGTAATAG CTCATTTGTTCATTTAGGTCTAAAACATTGCTTACTTCACCTAGCAGATA TTGCTCACTTTACCTAGCAGATAAATAGATCATACTTCACCTGATACAGA TGGTCCTCAGTTTATGATGGGGTTACATTCCGATAAACCCATCTAAGTTG AAACTATCACAAGCTGAAAACGCATTTAGTACACCTAACCTAAAGAACAT CATAGCTTACTTAGCCTAGCCTACCTTAAACATGCTCAGAACACTTATGT TAGCCTACCTATAGTTGATTACAATCATCTAACACAAAGCCTATACTTAT AATAAAGTAGTGAATATCCCATGTGATTTATTGAATGCTGTACTGAACGT GAAAAACAGGCTGGGCGTGGTGGCTGACGCCTATAATCCCAGCACTTTGG GAGGCGGGCAGATCACAAGGTCAAGAGATCCAGACCATCCTGGCCAACAT GGTGAAATCCCATCCCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGT GGCGCGCTCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCA ATCCAGCCTGGCGACAGAGTGAGACTGTCTGGAAAAAAAAAAAAAAAAAG AAAGAGAGTGAAAAACAGAATGGTTGTATAGGTACCTGAAGTACAGTGTC TAAGGAATGTATGTCGCTTTTGCACCACAGTAAGTTGAAAAATTCTTAAG TTGAATTACCGTAAGTCAGGGACTATGTTGAGAAAGAACATTTCTAACAC CTGCTGCAGAAAGATCCATCAATACACACAATTAATTTTAATTTCTTTTC CTTCAAAGCCTTCCTCTTAGTCTCCTTTTTTTTTTTAAGACAGAGCTTCA TTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCGAAA CCTCCTCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCTCCGCGTTGGTCAGGCTGGTCTCGAACTCCCAACC TCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCGT GAGCCACCGTGCCCGGCCAGTCTCTTATTACTCAATTCCTTCTCTCTAGG CCTTTCTCAAGTCTTCCTATTTTGAGTCATCAAAGCTCTAATGAAACCTC TCTCTAGTTCCCATACTCACCCGATCACGTCCACCCTTAGTCAGCGAGAC ATTGGCAACAGGGAAGGAGCAGAGTGAGGTGGTGGAGGAATCACAGTCGG TCCTAAATGAGATTGGAGGAGGATACTCTGCTAAGTTAGTCTTACTAGTC CATCCATACACCTTCTTTGCCCCCTAGGGCTCCCTCCTGCCCTCCTCCCT TCTCTCAGAACAGGCACCCTTCTCTCTGTTACAAAGATGGAGAACAAATG TGGCCAGGAGATTCAAGATACCAGGATTATTTCATTCTCTTCCTATGACT TCAATGTATGTCCTCTCATTACAACAGATGTTCTTAGATGGGAATCTAGA GATACTTAAATAGTTGCATACTTCAGTGTTTCTAAAGACTTAAGGAGCTT GATAAAAATGTAAATTCCAGGGCCAAGCAGCAGCGGCTCACGCCTGTAAT CCCAGCACTTTTGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGGAGTT TAAGACCAGCCTGACCAACATGGAGACACCCCATCTCTACTAAAAATACA AAATTAGCGGGGCGTGGTGGCGCATGCCTGTAATCCCACCTACTCGGGAC GCTGAGGCAGAAGAATCGCCTGAACCTGGGAGGCAGAGGTTGTGGTGAGC CAAGATCACGCCACTGCACTCCAGCCTGGGCAACAAGGGTGAAACTCCAT CTCAAAAAAAAAAAAAAGGAAATTCCAGGGTCCCACCCCAAGAGATTCTG ATTTGGTAGCTCTGGTCTGGGTCCTAGTTTGAGAAAACGCCTCCAAAAGG ATCTACAGATGGTTATTAAGAAGCTCATGAACCCCTCCAATTGTAGGCAA ATTTGCATGTGGGGGTGTGGGTGCAGCATATGCCTGGGCATGCATATACG TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCTTCCCAGG TTCACGCCATTTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAACAGGC GCCTGCCACCACGCCCGGCTAATTTTTTTATTTTTAGTAGAGACAGGGTT TCACGGTGTTAGCCAGGATAGTCTCAATCTCCTGACCTTGTGATCCGCCT GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCG GCCGTATATATGTTTTTATGGCAGGAAGGGCCATAAGATCCATTTCCTAA AAGTTTAAGAAGCTCTGCTTTAGAAACTATAGCTCTGGACCAGGGACTTA AGGGAAAAAATGACTTTAAACCATTGATTATAACGCCCTTCTCTGCATCT GTTGATAGGTCCTACAACCACTGTTAAGAAAAGAGAACTAGGCCGGGCGC AGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0197 a0004c0008t0001g0197	1	330	0.0030	-3338	c.405 others(17): Show c.405-1337_486+1919del		BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding	3/11				chr11	TogoVar
BST1_chr4_15698065_15737787	15715706	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04115.hp2 HG04115.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0112 a0012c0018t0001g0112	1	442	0.0023	0	c.612 others(5): Show c.612-1G>A		BST1	ENSG00000109743.11	transcript	ENST00000265016.9	protein_coding	5/8				chr4	TogoVar
BST2_chr19_17397939_17410630	17403328	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0015 a0002c0006t0015	a0002c0006t0015g0031 a0002c0006t0015g0031	1	412	0.0024	0	c.16 others(5): Show c.16-2A>T		BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding	4/4				chr19	TogoVar
BTAF1_chr10_91918770_92036437	91994534	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18978.hp2 NA18978.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0304 a0006c0011t0002g0304	1	330	0.0030	0	c.320 others(6): Show c.3200-1G>T		BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	22/37				chr10	TogoVar
BTNL2_chr6_32388339_32412181	32405287	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp2 HG01081.hp2 HG01255.hp2 others(2): Show HG00642.hp2 HG01081.hp2 HG01255.hp2 HG02922.hp2 NA19030.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187 a0008c0011t0004g0043 a0008c0011t0004g0186 a0008c0011t0004g0187	5	453	0.0110	0	c.80- others(4): Show c.80-1G>A		BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	1/7				chr6	TogoVar
BZW2_chr7_16641181_16711517	16682767	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18967.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0005t0001 a0001c0007t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(41): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0283 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0337 a0001c0001t0002g0344 a0001c0001t0002g0347 a0001c0001t0002g0363 a0001c0001t0002g0388 a0001c0001t0002g0403 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0282 a0001c0001t0004g0006 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0153 a0001c0001t0006g0377 a0001c0001t0008g0317 a0001c0001t0009g0110 a0001c0002t0003g0281 a0001c0005t0001g0026 a0001c0007t0002g0336	46	418	0.1101	1	c.340 others(6): Show c.340-3dupT		BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	4/11			INFO_REALIGN_3_PRIME	chr7	TogoVar
C10orf67_chr10_23197696_23349797	23239817	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0305 a0007c0011t0001g0305	1	326	0.0031	0	c.134 others(6): Show c.1347-1G>C		C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	12/15				chr10	TogoVar
C14orf180_chr14_104574764_104595515	104587748	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG02056.hp1 HG02074.hp1 others(5): Show HG00408.hp1 HG02056.hp1 HG02074.hp1 HG02165.hp2 NA18955.hp1 NA18977.hp2 NA19009.hp2 NA19012.hp1	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0004 a0000c0007t0004	a0000c0007t0004g0008 a0000c0007t0004g0008	8	433	0.0185	0	c.112 others(5): Show c.112-1G>A		C14orf180	ENSG00000184601.11	transcript	ENST00000557649.6	protein_coding	2/4				chr14	TogoVar
C20orf141_chr20_2809987_2820830	2815150	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG02258.hp1 HG02970.hp2 others(2): Show HG01891.hp1 HG02258.hp1 HG02970.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0003 a0001c0002t0001g0003	5	414	0.0121	0	c.-33 others(5): Show c.-33-2A>G		C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding	1/2				chr20	TogoVar
C2orf74_chr2_61157188_61169828	61163476	CGCCTGTA others(4484): Show CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAA CCCGGGAGTCAGAGGTTGCAGTGAGCCAAGATCGCCACTGCACTCCAGCC TGGTGACAGAGGGAGACTCCATCTCAAAAAAAAATAATAATAATAATAAA TAATAATAATAATAGGAGATGGAGTTGCATATAACTTAGGTTTGTAAGTA GAATGAGTCCAATGCCCACAGTCATTTAAGCCATTCTGGTTGCTTATCAG TTCGTGTTACTAAACCATTACATATGCCAAGTCTAGAAACTTGCTTAGTC TTCATTCTTACATTTATGTTTTTCTTAATAATTCCCCTTCAGTTTGTTTT TCTCAAAATCCTAGAATCTTAGAGCTGTTAAGAGACTATCTAGGGATCCA GCCCTCTCCTGTTTCCAATGAGAAAACGAGATGAATTGTTTACCTCTCCA CTGTGGCCAAGCTCAGGCCCAGACCGCAGCCCCCTGTGCTAGCTCCAGGG TCCTACAACAGCACACAACACAGCTGGGTCCTTCTTGAGCTCTGTGTCTG CGATTCCCTGACACGAACAACTCACATACCCTCCCACCCCATGGCCATGC CCGGTTGACGACAGAATGATGGTCCTGGTGGCTCTTGGGTTTGACCACTT CATGGAGAGAATTACATGTCACCAAATGTTATTTGAATATGTCAGTGTGT GCTTTTATAACCATAAAAATGTGAAAATGTGATCATGATGGATTATTGCT ACTTTCCTATATCATTTAGAAATGCTTTTTCTGTTTCTCGTTAAGTGTAC ATATAACCTGTAATTTTAAAAGCAGGGCTTGTCATAAATTGATTATTTGT TTATATTGTTTGTCCCATTCTCTTGCAGGATGATGGTTTGCAGAAAATAC ACACATCTGTCACTAGAACTCCTTCAGTTGTTGAAAGCCAAAAAAGACCT TTAAAAGGAGTGACATTTTCTAGGGAGGTAATTGTTGTGGATCTTGGGAA TGAATACCCTACACCTCGAAGCTATACTCGAGAACATAAAGAGAGGAAAT GAAGCTCAAAAAAGGGTAAGAGTGAAAGAAAATGTAACGTTTGACTAACG TTGAAAGACTGAGGGTACAAAATCATGTTGAAACAACAAAACAATGGGGA ATTAAGCAAATAAAGATATTATTTTACCTTTGTGCAGAAAGGAGTGAGCC ATGTGCAAAATTCTGTAAGTAAAATACTTAGAGCTTGAATATAATTTTTT AAAAATTCAAATCTGAGTTCAAGAAATTGATTGTATTGCCCTTAAAACTA TCTACTCAAACACTGTTCTGGCATGTGAATAAAGTGATTTTTGTTTGTAC AAATACCTATTAGGTACATCATATTCAAGGGGGATTTTTTGAAATAATAC ATGTTCTGCATGCTCTGATCATAGGCATTCATGACCAAATAACACTACAG CTGTCATCACGGAAGCTTCCATAACTGTCGTCTTCTACTACATAATCCCC ATTGAACTCAGTCCTGAAACCTTTCTTGTACTGACCACTGCTTCTTAAAA ATTGGTACAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTG GGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGTCAACGTGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGTCCG GCGTGGTGGCGTGCCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGG AGAATTGCTTGAACCAGGGAGGCAGAGGCTGCAGTAAGCTGAGATTGTGC CACTGCACCCCAGCCTGGGCAACAGAGCAAGACCCCATCTCAAAAAAAAA ATTGGTACAAAAAACAAACTACAACAGCCTGGGCAATATAGGGAACTCTG TCTCCACAAAAAATAAAAATAAAATAAGCCTGACATGGTGGTGCATGCCT TTAGTCCCAGCTACTAGGGAAAAACAGGCCCAACGTGGTGGCTCACACCT GTAATCCCAGCACTTTGGGTGGCTGAGGCGGGCAGATCACCTGAGGCCAG GAGTTCGAGACCCAGCCTGGCCAAAATGGTGAAACCCCATCTCTACTAAA AATACAAAAAAATTAGTGGGGTGTGGTGTCGCACTCCTGTAATCCTAGCT ACTCAGGAGGCTGAGGCAGGGGAATTGCTTGAACCTGGGAGGCAGAGGTT GCAATGAGCTGAGATTGCACTACTGCACTCCAGCCTGGGTGACAGAGGGA GACTCCATCTCAAAAAAAACAAAAACACAAACTACTACCAACAACAAAAC ATCCTATTACTTTATGCAAGTTCTGAGATTATACTATTCTTGATTTCAGT GGTTTAAAACTTGCTGTCCATGTGTGGAATATGACAGTACAGACTGCTAC GACATCATCCACACAGCTGCAGTATACATTTGTGACATGTCTAAGGGGCT CTGAGAGAAAAAGCAGATTCATTTGATTCAGAGGCCTCGCCCATTGTCAT GTGGATGTTCCATAAATGTCTGTGGAATGATTGGGAGTATAAGTGATAAA ATATTTTAGAATGTAGAACTATTGCCAAATGGGGTGTACTGACACCCTCT GCTGGGAGGCATGTCGCTGTGGGCTGGGACCATCCCACTGAGAGGAGGAA AAGGAACTTAGACAAATGGAAGGATTAGATAGATAAGACAAGCAGCTGGG GAAGAACATGAGTCAAGGCAAAGAGGTGAGGATGTGTATTGGGTTTGGTT CACACCAGTTGGCTGTCGCTGAATGTGGGTGTAGAGGAGAGTTGAGAGGC AACAGTGAAGTGTGGTGAGAAGTCAAAGTGAGGTTCACTTAGGATCCCAG GCTAAGGGTATAAAGTGGGAAATGGATCCAAGCTATGTGGACTGTTGGGG GAAGGTGCCTGCGGATATATTCAGAGTCTCTTTAAATTTTTTATCGTTCA CCTGATGATAATACTAAATTTTAAAAAATTTTCATTTTGGTAAAAGATAT ATGACATAAAACTTGCCACCTTAACCATTTATTTTATTTTATTTTTTGAG ACAGGGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGTGCGATCAGGG CTCATTGCAGCCTTGACCTCCGGGGCTTAAGCAATCCTCCCACCTCAGTC ACCAGAGGAACTAGGACTACAGGCACATGCCACCATGCCCAGCTAACTTT CGTATTTTTTGTTGAGACGGGATTTCACCATGTTGCCCAGGCTGGTCTCG AACTCCTGAGCTCAAGAAATCCACCCACCGTGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCATGCCAGGCTTCATCTTAGCCATTTTTAAGT GTACAGTTCAATAGTGTTTTAAGTACATTCACATTGCAGTACAATTGTCA CCACAGTTTTGTAGAAGTTCCAATACAGGAAAATGATGGGAAAATTGGCC ATCAATACCTATAACCATATAGGCACATGGAATTCCAGAAAGCCATCCGG ATCACGACTGTAACGTGAACAGCAGCACAGTCAACAAAGAGCTTCTGGCA CTAAACGTCCATTTGACTTTTATTGGTTCTGTGCTTTTTTGTATTTGATT TGTAAATTTCTTTTCTTTCTTTTTTTTTTTTTATTTTGAGACGGAGTCTC GCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCACACTGCAAGC TCCGCCTGCCGGGTTCACACCATTCTCCTGCCTAAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCATGACCAGCTAATTTTTTGTATTTTTAG TAGCGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCTGGCCTGTAAATTTCTTTTAGTTTTAAAGTTAGATGAAA GCTTTTAGGTTAGGGAGTTGATATCCGTCTTTGCGTTTCTACATGTTTTT AAGTGACACTATAATATACATAATCTTAGGCAATAATGGAAGAAGTCCAT GAGAGCTTTCCTCCAGGAGTAAGTTATTGAGGATTAGCAACTAGGAGGTG GTAAATGGAGATGGCTCCAGTGATGATTCAGATTTGAAGGATGTGGACCT GGAATAGAAGGTGGCAGAATGTAATGAGAAGATGAAGAAAGATTAAGGCA CATCACTTCCTGGTTAGATGTGGGAGGAGCGAGAGGAGGGTGCAAAGATG GCTCCTGAGTTTGGATACCTGCCAGACAGTCAGGAATAGGAGAGTCCAGG GAAGTAACTAGTTAGGGCAAAAAGATTAGGCAGGTTGGCCGGGCGCGGTG ACTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGTGGGCGGATCAC GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTC AACTAAAGATACAAAAAAATTTAGCCAGGCGTGGTGGCATGT	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG03195.hp1 HG03195.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0004 a0000c0004t0004	a0000c0004t0004g0015 a0000c0004t0004g0015	1	422	0.0024	-4491	c.390 others(13): Show c.390+245_*3440del		C2orf74	ENSG00000237651.8	transcript	ENST00000432605.3	protein_coding	5/5				chr2	TogoVar
C2orf92_chr2_97664713_97708066	97701148	ATTTAGAT others(31): Show ATTTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0172 a0009c0011t0002g0172	1	310	0.0032	-38	c.515 others(47): Show c.515-3_549delTAGATGCTCACTTTAGGACTATGCCCTGCGGGCAGC TT	p.Asp others(5): Show p.Asp172fs	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding	7/8	515/798	172/265	INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0008c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0007t0006 a0008c0010t0002 a0009c0008t0002	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0007t0006g0057 a0008c0010t0002g0065 a0009c0008t0002g0059	157	372	0.4220	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5			INFO_REALIGN_3_PRIME	chr3	TogoVar
C3orf84_chr3_49172634_49196858	49188964	ATTTTTTT others(1699): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTG GAATGCAATGGCGCTATCTGATCTTGGCTCACTGCAACTTCCACCTCCTG GGTTCAAGCCATTCTCCTGCCTTAGCCTCCCGAATAGCTGGGATTAGAGG CATGCGCCACCAAGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTT TCTCCATGTTGGTCAGGCTGGTCTTGAACTACCGACCTCAGGTGATCCTC CCACCTCGGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCACC TTGCCTATTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATG TTGGCCAGACTGGTTTCGAGCTCCTGACCTCAAGTGATCCACCTGCCCTG GCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCTCGCCCAGCTGTG ACCCTGATTTATGATACACAGTGCCCCTTCCTTGTCTCCAGGCTTGTAAG TAGTAAAGGGCCTAGGGCCCTGTATCCCTTTCCCATTCTCCAGAAGCCTG CTATAGCCACTCCAGGCTATCTCAGCCATCACTCCTTTCCAGTATTCCCT GGCCAAATGTGTAGGCCAGTAACCAGCTGCCTCCTGTACTACTTCCCTGA CCAGAGGAGGCCTCCTACTAATTTCTAAGGACCTGGACTGTGAAGCTGGC TGTGGAATGGACCATGGGCTTTCTTAGCATTAAGGAATCTGAATGTGAAG GTAGTTGTCAGCAAAACTCAAGGCTTACTTCCTGGGTTCTAGAGGCTCTT TGCCTGTAGCTACCCACCCCGGCTAGGCCCTTACCCTTTGTCCATCTAGA AGGGGCAGTGAGCAATATGGTTCAGTTTGGCACTCACTCTTTTCCACCCT GTCTGTAGGGGAAAGATCTGACATCTCAGAGAAGAAAGGTAAAGCCTGTC CCAGGGATAGGTGTCAGTACAGCCATGGAAGGGCTGGGATGATGCTTTTG GGTTCTGGGAGAGGCAAGAACTGGTCTAGTCACCCCCGCTGCCTTCAGGT CTGCCTTGTACCTGACATCGCTGCAGGAACACTGCTGGAGGCTGGGGCTT GGCTGCAAGGTGGTATTCTCTAGCACTTTCACTCTTGAATTGGCTTCTGT AGTGCCCATAGAAGCCATTGTTGTGCTATAACAAGACAGGAATGAGGATA AAACTCACTCAAATCTCCACCATGGATCCTAGACCTCAGGGCCCCAACTG AGGGTTCCAGGAAAGCCAGACCAGAAGCCCCTCATGGAAGTTCCTGACAG AATAGAAAGAATCTAAGGAGTTAGGACACTCCTGGAGATGGGCCAGTATA GAAGTGTCTTCATCCATCATTGGGACAGTTGACCTCAGCTGTAATGACCC ACCTGGGCTATGCATGTGTAGGGAAGGAGTGCCATTCATTTAGAGCAGAG ATTTGTGGGCAGGGCCACTGATCAGGGGTGTGGTCCTTCCCTAAAGAGCC TGAGAAGAAATCCCCTTTGTTGTTCTCTCCACAATTTTTTTTTTTTTTTT GAGACAGAGTCTTGCTCTTTCACCCAGGCTGGAGTACAGTGGCACAACCT CAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTCATTCTCCTGCCTCA GCCTCCCAAGTACCTGAGACTACAGGCGCCCACTATCATGCCAGGCTGAA TTTTTTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0127 a0002c0004t0001g0127	1	306	0.0033	-1706	c.28- others(15): Show c.28-532_141+1060del		C3orf84	ENSG00000236980.10	transcript	ENST00000545770.7	protein_coding	2/4				chr3	TogoVar
C5orf63_chr5_127046304_127078502	127052671	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	350	0.0029	0	c.115 others(5): Show c.115-2A>G		C5orf63	ENSG00000164241.14	transcript	ENST00000296662.10	protein_coding	3/4				chr5	TogoVar
C8G_chr9_136940243_136951975	136945927	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	416	0.0024	0	c.276 others(5): Show c.276-2A>G		C8G	ENSG00000176919.13	transcript	ENST00000371634.7	protein_coding	2/6				chr9	TogoVar
CA6_chr1_8940868_8980092	8951973	CCACGCCC others(5462): Show CCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGGTTTTGTCATA CTGGCCAGTCTGGTCTCGAACTCCTTGCCTCAAGTGCTCTGCCCACCTTG GCCTCCCAAAGTGCTAGGATTACAGGCACGAGCCACCAAGGCTGGCCATA ATTCCATTTTTCGATGTAAAGGGTTTTTTTCTGAGATGGAGTCTCACTCT GTCACCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAACCTCT GCCTCCTAGGGTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGATGGG ACTACAGGCGCACACCACCACCCCCAGCTAATTTTTGTATTTTTTGTAGA GATGGGGTTTCAGCATGTTGGCCTGGCTGGTCTCGAACTCCTGACCTCAA GTGATCCGCCCACCTTGGCCTCCCAAAGTGTTGAGATTATATGCATAAGC CACCGTGCCCAGCCTGATATAAAGTATTTTGAAAGATTTTTATAATTTAG CTTTTGAAGTTATTTGGCTATTGCCATTGGCTACTTTTCAGCAAGCTCCA AGCACATTCAGGAATTCTACTGAAGGGGGAAAAAAAGCTAATCTACAAAC TTTGAATCTAATGAGATTTTGATGAACACTAAGCTTAACAGTAAAGTTGA CATGACGTATTAAAGATTTGTTAATTTTTGGTTTTGCAAGGTTCTTTTAT TTGAGACGAAGTCGTGCCCTGTAGCCCAGGCTGGAGTGCGGTGGCGCGAT CTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAATCAATTCTCCTGCCT CAGCCTCCTCAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTA ATTTTTGTATTTCTAGTACAGACAGGGTGTCACCATGTTGGCCAGGCTGG TCTCAAACTCCTGACCTCAAGTCATCCGCCCACTTCGGCCTCCCAAAGTG CTGGGATTACAGGCATGAGCCACCATGCCCAGTCAGGTTTTGAAAGGTTT CTAATCACATGTATCGAGCAATCATTTCAGTGTCATGAAAATCCTGTGTT CCACCTGTTCATCTTTCCCTTCCTTCCTAAACCCTGGCAATCACTGATCT TTTTATTTGACCTATAGTTTTTCCTCTTCCAAAATGTCATATGGTTGGAA TCACACAGCATGTAGCCTTTTCACATTGGCTTCTTTCACTTAGCAATATG CATTTAAGTTTCCTCCATGTCTTTTCATGGCTTGATAGCTCATTTCTTTT CAGTGCTGAATATTCTATTGCCTGGATGAACCAGTTTATCCATTCACCTA TCCAAAGACATCCGGGCTGCTTCTCAGTTTTGGCAGTTATGAATAAAGCT GTTATAAAACCCATATGCAGGCCAGGCATGGTGGCTCATGCCTGTAACCC CAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAACCCAGGAATTTG AGACCAGCCTGGGCAATGTAGTGAGACCTACGAAAGTAATAAAAAAATTA GCCTGGCATGGTGGCTCAAACATACAGTCCTGGCTACATAGGAGGTTGAG GTGCGAGGCTCACTTGAGCAGCTTGGGAGGTCAAGGCTGCAGTGAGCTAT GATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCTTCTCTCA ATCAATCAATCAATCAGTCAATCAATCAATCAATCAATTCCATGTGTAGG TTTGTGTGTTTTCAGTCCATGTGGGTAATTACCAAGAGCTTGCTTGATCG TATAGTAATGTCAGAGGCGTTTGAACCAGAGTGACCCCATCTTGAATAGG GGGTGGGTAAGATAAGGTTGAGACCTACTGGACTGCACTCCCAGGAGGTT AAGGCATTCTCAGTCACAGGATGAGATAGGAGGTTGGCACAAGATACAGG TCATAAAGCTTGCTGATAAAACAGGTTGCAGTAAAGAAGCCTGACAAATC CTACCAAAATCAAGATGGCCACGAGAGTGACCTCCAGTTGTCCTCACTGC TACAGTCCCACTAGTGCTATGACAGTTTACATATGACATGGCAACGTCAG GAAGTTACCCTATGTGGTCTAAAAAGGGGAGGCATGAATAATACACCCCT TGTTTAGCATATAATTAAGACATAACCATAAAAACGGGCAACCAGCTGCC CTTGGGGCTGCTCTGCCTGTGGAGCAGCCATTCTTTATTCCACTACTTCC GTTTTTTTTTTTTTTTGGAGACAGAATCTTGCTCTGAGGCTGGAGTGCAG TGGTGCTACCTTGGCTCCCTGCAACCTCTGCCTCCTGGTTCAAGTGATTC TCGTGCCTCAGCCTCCCAAGTAGCTGGGTTTACAGGCATGCACCACCATG CTCCATTAAGTTTTATAATTTTAGTAAAGACGGGGTTTCGCCATGTCGGC CAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCTTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGGCACTGCGCCTGGCCTATTCCTT TATTTTCTTAATAAACTTGCTTTCACTTTATTCTGTGGACTCACCCCAAA TTCTTTCTTGTGTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGA CCGGTTTTTGGTAACATATAGACCAAGTTGGAAATAATTGACATTGAGAT AGTATTAAGTCTTCCTATCTGTGAACATGGAATATTTCTCCACTTATTTA GTTCTTCCTGATTTATTTCATTAGTTTTGTGATTTTCCTTATATAGATTT TGTCCATATTTTTGGGTTATTTTTGTATTTTTAGTAGAGACGAGGTTTCG CCATGTTGGCTAGGTTGGTCTTGAACCCCTGACCTCAGGTGATCTGCCTG CCTTGGCCTCCTAAATTGCTAGGATTACAGGTGTGAGCTGCCGGGCCTGG CCTCCTCATTTTAAAATTAAATTTAAATTAGATTCAACATTTCAATAAAG AGAAATTCAAATTGAAACACAGGCTGTTGAAACAAAGACAAGTTGCTACA AAATTTCTAAAATGAACTCCCAATTTCTCTGTTTTGGTGCAGACTAGTAA CAGTTGGTGGGCCGGCACTGATCCATTAATATATATTGCCCAGGTGCCGG CACTGATCCATTAATATATATTGCCCAGGTGCCGTGGCTCACCTATAATC CCAGCACTTTGAGAGGCCAAGGCAGGTGGATTGCTTGAGCCCAGGAGTTT CAGACCAGCCTGGGCAACATGGTGAAATTCTGTCTCTACAAATAAACTTA AAAATTAGCTGGACATGGTGGTGTGTGCCTGTAGTCCCTGCTACTTGAGG GGCTGAGGCAGGAGGATTGTTTGAGCCTGGGAGGTCGAGGCTGCAGTGAG CTGAGGTCATGCCACTGCACTCCAGGCTGGGTGACAGAGTAAGACCCTGC CTCAATTAAAATCTTTTTTAAAAAGCACAGTAACAGGCTCAGGGTTGTGG CTCTTTTCCAATTGGGCCTGTGTGGGCCTGTCAGTGTAACCAGAAGTAAC ACATTCCGTCTCCCGGGAGCTGTGTTTTGGGGAAATTGTGAGGACCTCTC TCATTTCTCCTGTGGTGCTTACTGTCCATTTAGGGAGCTCTGCTCGGGTC CTCAGCTCCTCGGCTCCCGTCTGCTTTCAGCATCACTGACCTTGCACGCC TCCTTTTAAGGCCCTTCCACGCCTCCTTTTAAGGCCCTTCCGTCCTTTTC TTGCAAGCATTGATTTTTGAGGCCAGCTACATCTCAAGCTCTAAATACAG AGCATTTGTTCTGCCAAACAGCCGGTGAAAACCTTTCAGGCCGGATTACT GCATTATAGCACATTACGTTATGAATTTAATCATAGCTCCCCGCTCCTTT AGACAATTTGGAAAGAAAGAGGGGGCACGTGACAGGTTTTAAATACCTCA TATTTGCTATCTTTTAAGAAAATGTTCTTGTTTACAGCCACCATTGATGA CTTTAAATAGGAAGATCTTGCCAGGCGCAGTGGCTCGCGCCTATAATCCC AGCACTCTGGGAGGCTGAGGAGGTTGGATCACTTGAGGTCAGGAGTTCGA GACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCATATGCCTGTAATCCCAGCTACTGGGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCT AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTC AAAATAAATAAATAGGAAGATCTTGCTCATGAGACACATGCTGCCTTTCC AACGCCGAAATTATATCCTCATAGATATTTTTCTTAGTCACTTTTCTTAG TAACTGAGCCCGTTTTTTTCTTTTTGTGTAGTTCATTCCAAAAGGCAGAG ATTTCAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAG GCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCGTAACC AATATGGTGAAACACTGTCTCTACTAAAAACACAAAAATTAGCCAGGCAT GGTGGCGGGCACCTGTAGTTCCAGCTACTCGGGAGGCTGAGGTGATAGGA TCCCTTGAAGCCAGGAGTTGGAGGCTGCAGTGAGTTGCTGCAGCAAGTCA TCGTGGTGCCACTGCACTCCAGCCTGAGCAACAGAGTGAGCATGAAAAAA AACAAAGAAAAGAAAACAGTTCTAAGAGGCCCCACTTCCTATTCTTATAC CTTCGGCAAATTCCAAACTTGGCCAGAGATAGAGAGTAGAATTCTAGTTT CCAAGCCCATTGGCCATAATTTTTCAGGACCTTCCCTTTCCCTGGGGCCA GCAAGCTGGACCTGCCACTGTGTGGTCCTGCCTCTGGCCTGTTGGTTCTG GGCGGGAAGGAGCGTGCTGGGGAGAGGCACTTGCCCAGCCTGGTTTACTT AGTGCCTGGCCTCCATCCTGACCTCACCCTGTGCCCTGTGCGCAAACGCC TCTTCTCCTTTGGTGACCCTGCCCATGGCATTCTAAGCCAGTCTATGGTA TTGGCTTGCCCTGGGCTCAGACAGGTGGGAGGTGAGCAGAGAAGCTACCC AGCCTGTAGGCCTGACCCCTCTGTGTTCACCTACTCTGCTCTCAGCCCCA CCTTGTCTCTCCAGTGCAGATCAGCCTGCCCTCCACCATGCGCATGACAG TGGCTGACGGCACTGTATACATAGCCCAGCAGATGCACTTTCACTGGGGA GGTGCGTCCTCGGAGATCAGCGGCTCTGAGCACACCGTGGACGGGATCAG ACATGTGATCGAGGTACCTGAGGACCCCCACTGTGTCCTCTTTCCTTTGA ACCCCATAGTCACTTTTCTTTTTATTTATTTATTTTGAGACAGAGTCTCG CTCTGTTGCCCCGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAC CTCCGCCTTCTGGGTTCAAG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03239.hp1 HG03239.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0001 a0013c0033t0001	a0013c0033t0001g0116 a0013c0033t0001g0116	1	452	0.0022	-5469	c.259 others(16): Show c.259+2534_408+159del		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	3/8			INFO_REALIGN_3_PRIME	chr1	TogoVar
CABYR_chr18_24134062_24166600	24155644	TTCTTCTC others(685): Show TTCTTCTCTAAAAATCTTTTTAGATGTTAATTAACCCATCTGGTTGTTGT TTTTCAGTAGAGAAATGGTCAGAAGGAACGACACCACAGAAGAAATTAGA ATGTTTAAAAGAACCAGGAAAAACATCTGTAGAATCTAAAGTACCTACCC AGATGGAAAAATCTACAGACACAGACGAGGACAATGTAACCAGAACAGAA TATAGTGACAAAACCACCCAGTTTCCATCAGTTTATGCTGTGCCAGGCAC TGAGCAAACGGAAGCAGTTGGTGGTCTTTCTTCCAAACCAGCCACCCCTA AGACTACTACCCCACCCTCATCACCACCTCCAACAGCTGTCTCACCAGAG TTTGCCTACGTCCCAGCTGACCCAGCTCAGCTTGCTGCTCAGATGTTAGG TAAAGTTTCATCTATTCATTCTGATCAATCTGATGTGTTAATGGTGGATG TGGCAACCAGTATGCCTGTTGTTATCAAGGAGGTGCCAAGCTCAGAGGCT GCTGAAGATGTCATGGTGGCTGCTCCTCTTGTGTGTTCTGGAAAGGTGCT AGAAGTGCAGGTTGTGAACCAAACATCTGTCCATGTAGATTTGGGTTCTC AACCTAAAGAAAATGAGGCTGAACCATCAACGGCTTCCTCAGTCCCCTTG CAGGATGAACAAGAACCTCCTGCTTATGATCAAGCTCCTGAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp1 HG01934.hp1	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0121 a0007c0030t0001g0121	1	408	0.0025	-692	c.200 others(14): Show c.200-54_541+296del		CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	4/6			INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01169.hp2 HG01243.hp2 HG02258.hp1 others(7): Show HG01169.hp2 HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp1 HG03225.hp2 HG03516.hp1 HG04115.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0021 a0001c0022 a0001c0024 a0001c0034	a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0003 a0001c0010t0001 a0001c0021t0002 a0001c0022t0001 a0001c0024t0001 a0001c0034t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0003t0001g0084 a0001c0005t0003g0055 a0001c0010t0001g0065 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0024t0001g0069 a0001c0034t0001g0086	10	118	0.0848	1	c.322 others(6): Show c.322-3dupT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37			INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GTT GTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02109.hp1 HG02615.hp2 HG02717.hp2 others(2): Show HG02109.hp1 HG02615.hp2 HG02717.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0012 a0001c0030 a0001c0035 others(2): Show a0001c0012 a0001c0030 a0001c0035 a0001c0036 a0001c0039	a0001c0012t0011 a0001c0030t0001 a0001c0035t0001 others(2): Show a0001c0012t0011 a0001c0030t0001 a0001c0035t0001 a0001c0036t0005 a0001c0039t0001	a0001c0012t0011g0036 a0001c0030t0001g0028 a0001c0035t0001g0049 others(2): Show a0001c0012t0011g0036 a0001c0030t0001g0028 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0039t0001g0047	5	118	0.0424	2	c.322 others(13): Show c.322-4_322-3dupTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37			INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54386694	G G	GTTT GTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00639.hp2 HG01070.hp2 others(17): Show HG00099.hp2 HG00639.hp2 HG01070.hp2 HG01175.hp1 HG02080.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03516.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18979.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0018 a0001c0043	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0003 a0001c0018t0001 a0001c0043t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0118 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0082 a0001c0002t0002g0091 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0005t0001g0052 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0092 a0001c0010t0003g0057 a0001c0018t0001g0076 a0001c0043t0001g0051	20	118	0.1695	3	c.322 others(14): Show c.322-5_322-3dupTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37			INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTT CTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01361.hp1 HG01516.hp1 HG03492.hp2 others(2): Show HG01361.hp1 HG01516.hp1 HG03492.hp2 NA19005.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0002t0026	a0001c0001t0001g0010 a0001c0001t0018g0011 a0001c0001t0028g0013 others(2): Show a0001c0001t0001g0010 a0001c0001t0018g0011 a0001c0001t0028g0013 a0001c0001t0029g0009 a0001c0002t0026g0015	5	200	0.0250	6	c.121 others(17): Show c.121-8_121-3dupTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02630.hp1 HG02630.hp2 HG03453.hp1 others(1): Show HG02630.hp1 HG02630.hp2 HG03453.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0001 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0012g0003 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0012g0003 a0001c0001t0016g0006	4	200	0.0200	11	c.121 others(23): Show c.121-13_121-3dupTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00741.hp1 HG01074.hp1 HG01496.hp2 others(7): Show HG00741.hp1 HG01074.hp1 HG01496.hp2 HG01978.hp1 HG02300.hp2 HG02523.hp2 HG04199.hp1 NA18983.hp1 NA19005.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0044	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0003g0136 a0001c0001t0012g0135 a0001c0002t0002g0035 a0001c0002t0002g0065 a0001c0002t0005g0137 a0001c0002t0030g0046 a0001c0002t0044g0138	10	200	0.0500	12	c.121 others(24): Show c.121-14_121-3dupTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp2 HG01167.hp2 HG01169.hp1 others(7): Show HG00423.hp2 HG01167.hp2 HG01169.hp1 HG02886.hp2 HG02922.hp2 NA18973.hp1 NA18985.hp2 NA19009.hp1 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0050 a0001c0002t0002 a0001c0002t0005 a0001c0004t0038	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0030 others(7): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0007g0039 a0001c0001t0050g0040 a0001c0002t0002g0041 a0001c0002t0005g0038 a0001c0002t0005g0200 a0001c0004t0038g0139	10	200	0.0500	13	c.121 others(25): Show c.121-15_121-3dupTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00609.hp2 HG00738.hp1 others(21): Show HG00408.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02896.hp1 HG03225.hp2 HG06807.hp1 NA18941.hp1 NA18981.hp2 NA18994.hp2 NA19002.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0040 a0001c0002t0002 a0001c0002t0015 a0001c0002t0017 a0001c0002t0057 a0001c0002t0060 a0002c0003t0013 a0002c0003t0052	a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0003g0193 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0040g0021 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0015g0018 a0001c0002t0015g0019 a0001c0002t0015g0020 a0001c0002t0017g0154 a0001c0002t0057g0151 a0001c0002t0060g0155 a0002c0003t0013g0022 a0002c0003t0052g0024	24	200	0.1200	14	c.121 others(26): Show c.121-16_121-3dupTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp1 HG01243.hp2 HG01943.hp1 others(11): Show HG01109.hp1 HG01243.hp2 HG01943.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02717.hp1 HG02965.hp1 NA18952.hp1 NA18985.hp1 NA19084.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0037 a0001c0002t0002 a0001c0002t0020 a0002c0003t0053	a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0003g0047 others(11): Show a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0003g0047 a0001c0001t0003g0144 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0007g0188 a0001c0001t0037g0194 a0001c0002t0002g0187 a0001c0002t0020g0145 a0002c0003t0053g0027	14	200	0.0700	15	c.121 others(27): Show c.121-17_121-3dupTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01071.hp2 HG01891.hp1 HG02572.hp1 others(4): Show HG01071.hp2 HG01891.hp1 HG02572.hp1 HG02647.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0048 a0001c0002t0002	a0001c0001t0001g0196 a0001c0001t0004g0161 a0001c0001t0006g0174 others(4): Show a0001c0001t0001g0196 a0001c0001t0004g0161 a0001c0001t0006g0174 a0001c0001t0007g0189 a0001c0001t0048g0195 a0001c0002t0002g0147 a0001c0002t0002g0179	7	200	0.0350	16	c.121 others(28): Show c.121-18_121-3dupTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02523.hp1 HG02622.hp2 HG04199.hp2 others(1): Show HG02523.hp1 HG02622.hp2 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0005 a0001c0001t0001 a0001c0001t0011 a0001c0002t0005	a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0011g0029 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0011g0029 a0001c0002t0005g0057	4	200	0.0200	17	c.121 others(29): Show c.121-19_121-3dupTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp1 HG03540.hp1 HG03540.hp2 others(1): Show HG02486.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0011 a0001c0001t0045 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0045 a0001c0002t0002	a0001c0001t0008g0063 a0001c0001t0011g0125 a0001c0001t0045g0128 others(1): Show a0001c0001t0008g0063 a0001c0001t0011g0125 a0001c0001t0045g0128 a0001c0002t0002g0050	4	200	0.0200	18	c.121 others(30): Show c.121-20_121-3dupTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02451.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG02451.hp2 HG02615.hp2 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019	a0001c0001t0006g0017 a0001c0001t0008g0180 a0001c0001t0019g0124 others(1): Show a0001c0001t0006g0017 a0001c0001t0008g0180 a0001c0001t0019g0124 a0001c0001t0019g0126	4	200	0.0200	19	c.121 others(31): Show c.121-21_121-3dupTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG01981.hp2 NA18989.hp1 HG00438.hp2 HG01981.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0011 a0001c0002t0058 a0001c0001t0009 a0001c0001t0011 a0001c0002t0058	a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159 a0001c0001t0009g0160 a0001c0001t0011g0055 a0001c0002t0058g0159	3	200	0.0150	20	c.121 others(32): Show c.121-22_121-3dupTTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0148 a0001c0002t0017g0148	1	200	0.0050	21	c.121 others(33): Show c.121-23_121-3dupTTTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	200	0.0050	22	c.121 others(34): Show c.121-24_121-3dupTTTTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0056 a0001c0001t0031g0056	1	200	0.0050	23	c.121 others(35): Show c.121-25_121-3dupTTTTTTTTTTTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150879	T T	TTTTTG TTTTTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02040.hp2 HG03041.hp1 HG03492.hp1 others(5): Show HG02040.hp2 HG03041.hp1 HG03492.hp1 NA18952.hp2 NA18984.hp2 NA19030.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002	a0001c0001t0001g0171 a0001c0001t0004g0163 a0001c0001t0004g0165 others(5): Show a0001c0001t0001g0171 a0001c0001t0004g0163 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0009g0169 a0001c0001t0054g0162 a0001c0001t0055g0170 a0001c0002t0002g0185	8	200	0.0400	5	c.121 others(16): Show c.121-3_121-2insTTTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150879	T T	TTTTTTTG TTTTTTTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG01516.hp2 HG02723.hp1 others(2): Show HG01109.hp2 HG01516.hp2 HG02723.hp1 HG03195.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0059 a0002c0003t0056	a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004 others(2): Show a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004 a0001c0002t0059g0054 a0002c0003t0056g0053	5	200	0.0250	7	c.121 others(18): Show c.121-3_121-2insTTTTTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13			INFO_REALIGN_3_PRIME	chr10	TogoVar
CAGE1_chr6_7321659_7394742	7374133	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	360	0.0028	0	c.688 others(5): Show c.688-2A>C		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	4/13				chr6	TogoVar
CALM1_chr14_90392029_90413268	90404357	AACAATTG others(17): Show AACAATTGCTGAATGTTCACAGGAT	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0090 a0002c0003t0046g0090	1	408	0.0025	-24	c.286 others(34): Show c.286-21_288delACAATTGCTGAATGTTCACAGGAT	p.Asp others(11): Show p.Asp96_Gly97del	CALM1	ENSG00000198668.14	transcript	ENST00000356978.9	protein_coding	5/6	286/450	96/149		chr14	TogoVar
CAMSAP3_chr19_7590863_7623304	7610688	TCCCACCT others(4): Show TCCCACCTCCAG	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18977.hp1 NA18977.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0147 a0010c0022t0001g0147	1	358	0.0028	-11	c.901 others(23): Show c.901-11_901-1delCCCACCTCCAG		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	6/16				chr19	TogoVar
CAPN11_chr6_44153820_44189401	44179618	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0333 a0003c0003t0002g0333	1	460	0.0022	0	c.141 others(6): Show c.1417-1G>A		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	12/22				chr6	TogoVar
CAPN12_chr19_38725192_38749474	38736320	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	342	0.0029	0	c.137 others(6): Show c.1375-2A>T		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20				chr19	TogoVar
CAPN9_chr1_230742388_230806989	230762651	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00609.hp2 HG02027.hp2 others(10): Show HG00438.hp1 HG00609.hp2 HG02027.hp2 HG02074.hp2 HG02523.hp1 HG02738.hp2 HG03834.hp1 NA18942.hp2 NA18962.hp2 NA18966.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp1	a0005 a0005	a0005c0008 a0005c0035 a0005c0008 a0005c0035	a0005c0008t0001 a0005c0035t0001 a0005c0008t0001 a0005c0035t0001	a0005c0008t0001g0096 a0005c0008t0001g0097 a0005c0008t0001g0166 others(10): Show a0005c0008t0001g0096 a0005c0008t0001g0097 a0005c0008t0001g0166 a0005c0008t0001g0234 a0005c0008t0001g0235 a0005c0008t0001g0237 a0005c0008t0001g0238 a0005c0008t0001g0239 a0005c0008t0001g0240 a0005c0008t0001g0241 a0005c0008t0001g0242 a0005c0008t0001g0243 a0005c0035t0001g0236	13	394	0.0330	0	c.403 others(5): Show c.403-2A>G		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/19				chr1	TogoVar
CAPS2_chr12_75270979_75335324	75323223	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	370	0.0027	0	c.132 others(5): Show c.132-1G>T		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	3/16				chr12	TogoVar
CARD11_chr7_2901142_3048867	2915374	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0002 a0003c0022t0002	a0003c0022t0002g0204 a0003c0022t0002g0204	1	322	0.0031	0	c.270 others(6): Show c.2704-2A>T		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	20/24				chr7	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6	305/552	102/183		chr9	TogoVar

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