Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZSCAN22_chr19_58321994_58347332	58326654	T T	TCACCCTC others(233): Show TCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCA GCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGCCCTCAC ACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACA GGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCT CAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	400	0.0025	240	c.-51 others(249): Show c.-512_-511insCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCAC ACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCAC CCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCCT CAGCTCTCACACAGGCACCCTCAGCCCTCACACAGCCAACCCCATCCCTC ACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACA CAGG	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		339		chr19	TogoVar
ABR_chr17_998519_1184981	1072472	T T	TGTGAGAG others(234): Show TGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGA CGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGC CCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAA GGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCT GCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	337	0.0030	241	c.894 others(256): Show c.894+141_894+142insGGGCGGCAGGTCCCTCGTCCCCTTCTCTCA CACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGG TCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTC TCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCG GCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCC CCTTCTCTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1239481	T T	TCTCCCTC others(234): Show TCTCCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	106	0.0094	241	c.136 others(260): Show c.1361+2649_1361+2650insGGGGGAGTAAACACCGGGAGGGAGGG GGGAGTAAACACCGGGAGGGAGGGGGGAGTAAACACCGGGAGGCAGAGGG GAGTAAACACCGGGAGGCAGGGGGGAGTAAACACCGGGAGGGAGAGGGGA GTAAACACCGGGAGGCAGGGGGGAGTAAACACCGGGAGGGAGGGGGGAGT AAACACCGGGAGGGAGGGGGGAGTAAACACCGGGAGGCAGGGGGGGAGTA AACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRL4_chr1_78884764_79011730	79001176	G G	GAGGGGGG others(234): Show GAGGGGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGG GGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGG GGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGAGG GAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02723.hp2 others(2): Show HG02559.hp2 HG02630.hp2 HG02723.hp2 HG03471.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0364 a0002c0005t0001g0365 a0002c0005t0001g0366 others(2): Show a0002c0005t0001g0364 a0002c0005t0001g0365 a0002c0005t0001g0366 a0002c0005t0001g0367 a0002c0005t0001g0368	5	390	0.0128	241	c.172 others(258): Show c.172+3893_172+3894insTCTCTCCCTTCCTCCCTCCCTTCCTTCC TTCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTT CCTCCCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCC TCCCTCCCCCCCT	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
AHNAK2_chr14_104932253_104983374	104933704	G G	GGACGGGG others(234): Show GGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGG AGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTG AGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCG GGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTG AGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0081 a0081	a0081c0173 a0081c0173	a0081c0173t0002 a0081c0173t0002	a0081c0173t0002g0180 a0081c0173t0002g0180	1	356	0.0028	241	c.43 others(252): Show c.4358_*4359insGTCCCCTCAGTCGCAGGTCCCCTCCCGCCCTCCC GGTCCCCTCAGCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGGG TCGCCTCCCGCCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTC CCCTCACTCAGCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCC GCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCT CCCCGTC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3548		chr14	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATA others(234): Show TATATATATAGAATATATATTTATATATATAGAATATATATATAGAATAT ATATTTATATATATAGAATATATATATAGAATATATATTTATATATATAG AATATATATATAGAATATATATTTATATATATAGAATATATATATAGAAT ATATATTTATATATATAGAATATATATATAGAATATATATTTATATATAT AGAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02895.hp2 HG02897.hp2 HG01109.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0006 a0001c0003t0002 a0001c0005t0006	a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0005t0006g0157 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0005t0006g0157	3	288	0.0104	241	c.70- others(258): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(234): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTAATGCATACTCTACACATACCGTATGTATG TATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATAC CGTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACT CTACACATACCGTATGTATGTATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	352	0.0028	241	c.723 others(258): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATTACATAC ATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTAT GCATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANO3_chr11_26327130_26668289	26529099	T T	TATATATA others(234): Show TATATATATTATATAATATTATATAATATATAATAATATATAATATATAA TTATATAATATATTATTATATATTATATATTATTATATATTATATAATAT ATTATTATATAATAATATATAATATATTATAATATATATTATATATTATA TAATATATATTATATATTATATATATTATACATTATATAATATATATTAT ATATTATATATATTATATATTATATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02486.hp1 HG00639.hp1 HG02055.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0007 a0001c0004t0003 a0001c0007t0001 a0001c0003t0007 a0001c0004t0003 a0001c0007t0001	a0001c0003t0007g0100 a0001c0004t0003g0091 a0001c0007t0001g0009 a0001c0003t0007g0100 a0001c0004t0003g0091 a0001c0007t0001g0009	3	190	0.0158	241	c.738 others(258): Show c.738-2095_738-2094insATAATATTATATAATATATAATAATATA TAATATATAATTATATAATATATTATTATATATTATATATTATTATATAT TATATAATATATTATTATATAATAATATATAATATATTATAATATATATT ATATATTATATAATATATATTATATATTATATATATTATACATTATATAA TATATATTATATATTATATATATTATATATTATATATATTATATATTATA TAATATATATTAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(234): Show AGGGGAGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAG GGAAGGGGGAGGGAAGAGGAGGGGAGGGGATGGGAGGGGAGGGGGAGGGG AGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGGG GAGGGGAGGGGAGGGGAGATGGGAGGGGAGGGAGGGGTGAGGGGAGGGGA GGGGGAGGGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	216	0.0046	241	c.311 others(258): Show c.311-1320_311-1319insCTCCCCTCCCCTCCGCTCCCCTCCCCTC TCCTCCCCTCCCCCTCCCCTCCCCTCACCCCTCCCTCCCCTCCCATCTCC CCTCCCCTCCCCTCCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCC CCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCTCCCCTCCTCT TCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCT CCTTCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMT_chrX_1610059_1648081	1610077	G G	GCCCCTAC others(234): Show GCCCCTACTCCAGCCAAAGCTCCAGGCCACCCCTGTCCCCTACTCCACCC AAGCCTCCAGGAGGCCCTGTCACCTACTCCAGCCAAGCCTCCAGGCCAGT CCTTCCTTTACTCCAGCCAAGCCTCCAGGCCACCCCTGTCCCTACTGCAG CCAAACCTCCAGGCCGCCGCTGTCCCCTACTCAAACCAAGCCTCCAGGCC GCCCCTGCTCCTCCTCCAGCCAAGCCTCCAGGCCAGCCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	223	0.0045	241	c.-51 others(252): Show c.-5123_-5122insCCCCTACTCCAGCCAAAGCTCCAGGCCACCCCTG TCCCCTACTCCACCCAAGCCTCCAGGAGGCCCTGTCACCTACTCCAGCCA AGCCTCCAGGCCAGTCCTTCCTTTACTCCAGCCAAGCCTCCAGGCCACCC CTGTCCCTACTGCAGCCAAACCTCCAGGCCGCCGCTGTCCCCTACTCAAA CCAAGCCTCCAGGCCGCCCCTGCTCCTCCTCCAGCCAAGCCTCCAGGCCA GCCCTGT	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4981		chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(234): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGATATATATATCATATATGATATATATGAATAT ATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0175 a0002c0001t0006g0175	1	356	0.0028	241	c.924 others(258): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA TTCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10B_chr5_160558120_160857211	160653316	G G	GTAGTACA others(234): Show GTAGTACATATACATACGTACGTACATACATAGGTAGTACATATACATAC GTACGTACATACATAGTACATATACATACGTACGTACATAGTACATATAC ATACGTACGTACATAGTACATATACATACGTACGTACATAGTACATATAC ATACGTACGTACATAGTACATATACATACGTACGTACATAGTACATATAC ATACGTACGTACATAGTACATATACATACGTACGTACATACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 NA18906.hp2 HG01884.hp2 HG02717.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0029 a0001c0008 a0001c0029	a0001c0008t0019 a0001c0008t0037 a0001c0029t0047 a0001c0008t0019 a0001c0008t0037 a0001c0029t0047	a0001c0008t0019g0087 a0001c0008t0037g0023 a0001c0029t0047g0219 a0001c0008t0019g0087 a0001c0008t0037g0023 a0001c0029t0047g0219	3	236	0.0127	241	c.676 others(258): Show c.676-4061_676-4060insTGTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTACGTACGTATGTATATGTACTATGTACGTACGTATGTATATGTACT ATGTATGTACGTACGTATGTATATGTACTACCTATGTATGTACGTACGTA TGTATATGTACTA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	ATATATAT others(234): Show ATATATATATAGTTTATATATATATACTATATATATAGTTTATATATATA CTATATATATAGTTTATATATATATACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATACTATATATATAGTTTATATATATA TACTATATATATAGTATATATATATACTATATATATAGTATATATATATA TACTATATATATAGTTTATATATATATACTATATATATAGTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	304	0.0033	241	c.331 others(260): Show c.3314-1177_3314-1176insAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATATACTATATATATAGTATATATATA TACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA TACTATATATATAGTTTATATATATATACTATATATATAGTATATATATA TAAACTATATATATAGTATATATATAAACTATATATATAGTATATATATA TAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(234): Show AGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	391	0.0026	241	c.36 others(252): Show c.3611_*3612insGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
B4GALNT3_chr12_454939_568509	511665	A A	ACCTTCCG others(234): Show ACCTTCCGCCTTCCACCTTCCACCTTCCACCTTCCACCTTCCTTCCACCT TCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCGCCTTCCAC CTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTCCACCT TCGAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCCACCTTCCACCTT CCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTCCG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0161 a0005c0006t0001g0161	1	394	0.0025	241	c.170 others(260): Show c.170-23488_170-23487insACCTTCCACCTTCCACCTTCCACCTT CCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTC CGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCT TCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTCCAC CTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCGACCTTC CGCCTTCCGCCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(234): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGG GGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGG GAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02109.hp1 HG02486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0006c0013t0002 a0001c0001t0002 a0006c0013t0002	a0001c0001t0002g0052 a0006c0013t0002g0051 a0001c0001t0002g0052 a0006c0013t0002g0051	2	298	0.0067	241	c.51+ others(254): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCC TCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(234): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	330	0.0030	241	c.431 others(258): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(234): Show CTCCCCTCCTCCCCTCCCTCCTCTCCTCCTCCTCCTCCCCTCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCT CCCTCCCCTCCCTCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	330	0.0030	241	c.431 others(258): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCTCCTCTCCTCC TCCTCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCTCTCCCCTCCCCTCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(234): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	330	0.0030	241	c.431 others(258): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCTCC others(234): Show CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTTC TCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCCTTCCCCTCCT CCCCTCCCCTCCCCTCCCCCTCCCCCCTGTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	330	0.0030	241	c.431 others(258): Show c.4311+822_4311+823insTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTC CCCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTGTATC TCCTCCCCTCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(234): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGATGGTAATGATGGGGGT GACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	292	0.0034	241	c.21 others(256): Show c.21-379_*21-378insATCACCACCATCACCATCACCACCATCATC ACCACCACCGTCACCCCCATCATTACCATCACCACCACCACCACCATGAC CACCACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCA CCACCACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCC ACCACTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCCAT CATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C8B_chr1_56924207_56971015	56929083	C C	CTGTGTAA others(234): Show CTGTGTAACAGTGGACAAATTGCTTAAGTGCTCTAAGCCTCAGTTCCCCC CAGCTGTTCTAGCATCTACCTTATAAGGTTGTCATGAGGATGGAAGGGAT TAATACACAGAATCCATGGCTGACACATAGTAGTCATCCAATAAACAGTA ACTACCATTATTATTGAACAAGACCTTGTACTCATCAAGGAAAGAATGCA TTAATATTTATTCATTGATTCATTATTAAGCACCTATTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	402	0.0025	241	c.32 others(250): Show c.320_*321insTATAAATAGGTGCTTAATAATGAATCAATGAATAAA TATTAATGCATTCTTTCCTTGATGAGTACAAGGTCTTGTTCAATAATAAT GGTAGTTACTGTTTATTGGATGACTACTATGTGTCAGCCATGGATTCTGT GTATTAATCCCTTCCATCCTCATGACAACCTTATAAGGTAGATGCTAGAA CAGCTGGGGGGAACTGAGGCTTAGAGCACTTAAGCAATTTGTCCACTGTT ACACA	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding		123		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64512460	C C	CTGCTCTT others(234): Show CTGCTCTTCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	166	0.0060	241	c.199 others(260): Show c.199-38119_199-38118insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGG TGCTCTTCCCCTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCGGC others(234): Show GCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGG GCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0006 a0006c0014t0006	a0006c0014t0006g0142 a0006c0014t0006g0143 a0006c0014t0006g0142 a0006c0014t0006g0143	2	248	0.0081	241	c.49 others(252): Show c.4946_*4947insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCA AGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGC AGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCC GGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185836	G G	GGGGTACG others(234): Show GGGGTACGTGGGGGGTGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02109.hp2 HG02280.hp2	a0003 a0029 a0003 a0029	a0003c0022 a0029c0065 a0003c0022 a0029c0065	a0003c0022t0028 a0029c0065t0007 a0003c0022t0028 a0029c0065t0007	a0003c0022t0028g0026 a0029c0065t0007g0202 a0003c0022t0028g0026 a0029c0065t0007g0202	2	338	0.0059	241	c.300 others(258): Show c.300-9133_300-9132insTACGTGGGGGGTGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGG GGCCGGAGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199335	G G	GCCCACCG others(234): Show GCCCACCGTGCGGTAGCTGCACATATGCCCCACCCCCCACCATGGCTCCG CCCACCGTGCGGTCGCTGCACATACGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0012 a0012	a0012c0038 a0012c0038	a0012c0038t0001 a0012c0038t0001	a0012c0038t0001g0295 a0012c0038t0001g0295	1	338	0.0030	241	c.803 others(256): Show c.803+574_803+575insAGCTGCACATATGCCCCACCCCCCACCATG GCTCCGCCCACCGTGCGGTCGCTGCACATACGCCCCACCCCCATCATGGC TCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTC CGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA CCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACC CACCGTGCGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199335	G G	GCCCACCG others(234): Show GCCCACCGTGCGGTAGCTGCACATATGCCCCACCCCCCACCATGGCTCCG CCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCCACCATGGCTCCACCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp1 HG03704.hp1 HG04199.hp1	a0025 a0072 a0025 a0072	a0025c0047 a0072c0123 a0025c0047 a0072c0123	a0025c0047t0005 a0072c0123t0006 a0025c0047t0005 a0072c0123t0006	a0025c0047t0005g0247 a0072c0123t0006g0059 a0025c0047t0005g0247 a0072c0123t0006g0059	2	338	0.0059	241	c.803 others(256): Show c.803+574_803+575insAGCTGCACATATGCCCCACCCCCCACCATG GCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGC TCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTC CGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCACCATGGCTCCA CCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACC CACCGTGCGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199335	G G	GCCCACCG others(234): Show GCCCACCGTGCGGTAGCTGCACATATGCCCCACCCCCCACCATGGCTCCG CCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01361.hp2 HG02040.hp2 others(4): Show HG01243.hp2 HG01361.hp2 HG02040.hp2 HG02083.hp1 HG03834.hp1 NA18955.hp1 NA18999.hp1	a0011 a0012 a0024 a0011 a0012 a0024	a0011c0020 a0011c0129 a0012c0036 others(2): Show a0011c0020 a0011c0129 a0012c0036 a0012c0038 a0024c0037	a0011c0020t0006 a0011c0020t0012 a0011c0129t0012 others(3): Show a0011c0020t0006 a0011c0020t0012 a0011c0129t0012 a0012c0036t0001 a0012c0038t0002 a0024c0037t0004	a0011c0020t0006g0061 a0011c0020t0012g0335 a0011c0129t0012g0122 others(4): Show a0011c0020t0006g0061 a0011c0020t0012g0335 a0011c0129t0012g0122 a0012c0036t0001g0011 a0012c0038t0002g0115 a0024c0037t0004g0056 a0024c0037t0004g0280	7	338	0.0207	241	c.803 others(256): Show c.803+574_803+575insAGCTGCACATATGCCCCACCCCCCACCATG GCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGC TCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTC CGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCA CCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCACC CACCGTGCGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(234): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GGGGGAGGAAGGGGGGGGAAGGGGGGAAGGGGGAGGAAGGGGGGGGAAGG GGGAGGAAGTGGGAGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGG GAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02155.hp2 NA19005.hp2 HG02074.hp2 HG02155.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0001 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0162 a0001c0001t0004g0164 a0001c0001t0021g0165 a0001c0001t0001g0162 a0001c0001t0004g0164 a0001c0001t0021g0165	3	234	0.0128	241	c.207 others(258): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCCCTTCCCCCCCCTTCCTCCCCCTTCCCCCCTTCCCC CCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCC CTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(234): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GGGGGAGGAAGGGGGGGGAAGGGGGGAAGTGGGAGGAAGGGGGGGGAAGG GGAAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGG GAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0077 a0001c0001t0018g0077	1	234	0.0043	241	c.207 others(258): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTTCCCCTTCCCCCCCCTTCCTCCCACTTCCCCCCTTCCCC CCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCC CTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(234): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGAA GGGGGAGGAAGGGGGGGGAAGGGGGGAAGTGGGAGGAAGGGGGGGGAAGG GGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCGG GAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02451.hp2 NA18942.hp1 others(5): Show HG02071.hp2 HG02451.hp2 NA18942.hp1 NA18945.hp2 NA19012.hp1 NA19060.hp2 NA19066.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0023	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0002g0043 a0001c0001t0002g0078 a0001c0001t0002g0229 a0001c0001t0017g0089 a0001c0001t0023g0226	8	234	0.0342	241	c.207 others(258): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCACTTCCCCCCTTCCCC CCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCATTTCCTCCCC CTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNB2_chr10_18135424_18548557	18208764	T T	TGGAAAGG others(234): Show TGGAAAGGCAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	200	0.0050	241	c.213 others(260): Show c.213+57804_213+57805insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA GGAAAGGCAACTCTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG7_chr19_53904278_53948950	53921620	C C	CATTGGTG others(234): Show CATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCT GGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGTCCCCA GGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGT CCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAG TTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	364	0.0028	241	c.424 others(258): Show c.424+6124_424+6125insCTTGCCCCAGGTCTGGTCATTGGTGGAG CTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTG GAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCAT TGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGG TCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTC TGGTATTGGTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922123	C C	CAGGTCTG others(234): Show CAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTG CCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTCATTAGTGGAGTTGTCCCAGGTCTGGTCAT TGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0233 a0001c0001t0010g0233	1	364	0.0028	241	c.424 others(258): Show c.424+6621_424+6622insTCTGGTCATTGGTGGAGTTGTCCCAGGC TGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGT CCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTAGTGGAGT TGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTG GAGTTGTCCTAGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(234): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGGAGTGGGGGAGGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGG GGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0182 a0001c0003t0001g0182	1	340	0.0029	241	c.104 others(260): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC CTCCCCCACTCCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(234): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18954.hp1 NA18956.hp2 HG01515.hp1 NA18954.hp1 NA18956.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0009 a0003c0014 a0001c0002 a0001c0009 a0003c0014	a0001c0002t0002 a0001c0009t0001 a0003c0014t0001 a0001c0002t0002 a0001c0009t0001 a0003c0014t0001	a0001c0002t0002g0297 a0001c0009t0001g0088 a0003c0014t0001g0308 a0001c0002t0002g0297 a0001c0009t0001g0088 a0003c0014t0001g0308	3	410	0.0073	241	c.-22 others(258): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761440	A A	AGAAGAAG others(234): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0314 a0004c0008t0001g0314	1	364	0.0028	241	c.234 others(258): Show c.234+6867_234+6868insCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621167	A A	ATATATAG others(234): Show ATATATAGATATATTTATATAAATATATCTATATATTATATATAGATATA TTTATATAAATATATCTATATATTATATATAGATATATTTATATAAATAT ATCTATATATTATATATAGATATATTTATATAAATATATCTATATATTAT ATATAGATATATTTATATAAATATATCTATATATTATATATAGATATATT TATATAGATATATTTATATAGATATATTTATATAGATATATC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	206	0.0049	241	c.264 others(260): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAAA TATATCTATATATTATATATAGATATATTTATATAAATATATCTATATAT TATATATAGATATATTTATATAAATATATCTATATATTATATATAGATAT ATTTATATAGATATATTTATATAGATATATTTATATAGATATATCTATAT AGATATATTTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42546393	A A	ATATATAT others(234): Show ATATATATATATGTATATGTATATATATACACGTATATATATATGTATAT ATATACACGTATATATATATGTATATATATACACGTATATATATATGTAT ATATATACACGTATATATATATGTATATATATACACGTATATATATATGT ATATATATACACGTATATATATATGTATATATATACACGTATATATATAC GTATATATATACACGTATATATATATGTATATATATACACGT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19002.hp1 NA18986.hp2 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0016 a0002c0003t0005 a0002c0003t0016	a0002c0003t0005g0031 a0002c0003t0016g0020 a0002c0003t0005g0031 a0002c0003t0016g0020	2	324	0.0062	241	c.890 others(256): Show c.890+814_890+815insTATATATATATGTATATGTATATATATACA CGTATATATATATGTATATATATACACGTATATATATATGTATATATATA CACGTATATATATATGTATATATATACACGTATATATATATGTATATATA TACACGTATATATATATGTATATATATACACGTATATATATATGTATATA TATACACGTATATATATACGTATATATATACACGTATATATATATGTATA TATATACACGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	410	0.0024	241	c.-22 others(252): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	241	c.-22 others(252): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(234): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCC CCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	241	c.-22 others(252): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(234): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATT TAAATAGTATTTAAATACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	384	0.0026	241	c.125 others(258): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATT TAAATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATA CTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTT AAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(234): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGA TGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGGAGGG AGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAG GGCAGGGGAGGGGAAGGGCAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0140 a0002c0009t0140	a0002c0009t0140g0242 a0002c0009t0140g0242	1	256	0.0039	241	c.727 others(258): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTGCCCCCATCCACTCCC CTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTT CCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCT CCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDK14_chr7_90591321_91215590	90765037	T T	TGAAAGAC others(234): Show TGAAAGACAAGCAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAGAAAGGAAAAAAAAAA TAAATAAATAAATAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	168	0.0060	241	c.464 others(260): Show c.464+17273_464+17274insAATGCTAGATGACACATTAGTGGGTG CAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAGAAA GGAAAAAAAAAATAAATAAATAAATAAAAATAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGACAAGC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHFR_chr12_132827356_132892605	132892412	G G	GGACAACA others(234): Show GGACAACATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0124 a0001c0001t0143g0124	1	378	0.0027	241	c.-48 others(252): Show c.-4879_-4878insTCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA TGTTGTC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding		4808		chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133740	C C	CTCCCTCC others(234): Show CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	223	0.0045	241	c.-43 others(252): Show c.-4304_-4303insTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT CCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4021		chr19	TogoVar
CPNE7_chr16_89570758_89602246	89571045	G G	GGGCACGG others(234): Show GGGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGTGAGCGGGGACGGGAG GAGGTGAGCGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAGGTGAGCG GGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGA GGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAG CGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02976.hp1 HG03209.hp1 HG00639.hp1 HG02976.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0006 a0001c0001t0001 a0001c0002t0001 a0001c0007t0006	a0001c0001t0001g0285 a0001c0002t0001g0287 a0001c0007t0006g0282 a0001c0001t0001g0285 a0001c0002t0001g0287 a0001c0007t0006g0282	3	348	0.0086	241	c.-48 others(252): Show c.-4853_-4852insGGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGT GAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCAGGCAC GGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGG TGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGC ACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGA GGTGAGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4712		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571045	G G	GGGCACGG others(234): Show GGGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGTGAGCGGGGACGGGAG GAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTGAGCG GGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGA GGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAG CGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	348	0.0029	241	c.-48 others(252): Show c.-4853_-4852insGGCACGGGAGGAGGTGAGGGGCACGGGAGGAGGT GAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGCAC GGGAGGAGGTGAGCGGGGCACGGGAGGAGGTGAGCGGGGACGGGAGGAGG TGAGCGGGGACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGC ACGGGAGGAGGTGAGCGGGGACGGGAGGAGGTGAGCGGGGCACGGGAGGA GGTGAGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4712		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587707	A A	ACCCCCCA others(234): Show ACCCCCCATGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAG CCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	348	0.0029	241	c.927 others(256): Show c.927+610_927+611insCATGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCAGCCACAGATAC ACGGCCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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