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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C22orf42_chr22_32144006_32164303	32146587	C C	CTATAGTA others(18): Show CTATAGTATATAATATATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02559.hp2 NA18522.hp2 HG01099.hp1 HG02559.hp2 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0024 a0001c0009t0002g0024	3	398	0.0075	25	c.29 others(36): Show c.2952_*2953insTATAATATATATATTATATACTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2418		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0026 a0002c0007t0002g0026	1	398	0.0025	25	c.16 others(36): Show c.1637_*1638insAAAAAAATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03654.hp1 NA19090.hp1 HG01993.hp2 HG03654.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0003t0001 a0001c0006t0003 a0001c0002t0002 a0001c0003t0001 a0001c0006t0003	a0001c0002t0002g0206 a0001c0003t0001g0054 a0001c0006t0003g0341 a0001c0002t0002g0206 a0001c0003t0001g0054 a0001c0006t0003g0341	3	396	0.0076	25	c.280 others(42): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	396	0.0025	25	c.280 others(42): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2_chr6_31922717_31950672	31933091	C C	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01123.hp1 others(13): Show HG00323.hp2 HG00741.hp2 HG01123.hp1 HG01256.hp2 HG01258.hp2 HG01993.hp1 HG03654.hp1 HG03704.hp1 NA18970.hp1 NA18985.hp2 NA18997.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19086.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0004 a0004c0005 a0002c0003 a0002c0004 a0004c0005	a0002c0003t0001 a0002c0004t0001 a0004c0005t0001 a0002c0003t0001 a0002c0004t0001 a0004c0005t0001	a0002c0003t0001g0009 a0002c0003t0001g0038 a0002c0003t0001g0083 others(9): Show a0002c0003t0001g0009 a0002c0003t0001g0038 a0002c0003t0001g0083 a0002c0003t0001g0085 a0002c0003t0001g0088 a0002c0003t0001g0092 a0002c0004t0001g0009 a0002c0004t0001g0038 a0002c0004t0001g0080 a0002c0004t0001g0086 a0004c0005t0001g0084 a0004c0005t0001g0087	16	395	0.0405	25	c.443 others(40): Show c.443-507_443-483dupGTGGAAAGAGAGGGAGAGGGAGACC	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C3_chr19_6672704_6725650	6709984	A A	AGAGAGAG others(18): Show AGAGAGAGAAAGGGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0014 a0014	a0014c0056 a0014c0056	a0014c0056t0002 a0014c0056t0002	a0014c0056t0002g0111 a0014c0056t0002g0111	1	370	0.0027	25	c.168 others(42): Show c.1687-143_1687-142insCCTCCCTCTCCTCCCTTTCTCTCTC	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	13/40			chr19	TogoVar
C3orf14_chr3_62314022_62341213	62327489	A A	AGGCTAAT others(18): Show AGGCTAATGGCTATCATATGAGCAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00639.hp2 others(156): Show HG00280.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19059.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0105 a0001c0001t0003g0008 a0001c0001t0003g0094 a0001c0001t0004g0013 a0001c0001t0007g0061 a0001c0001t0007g0080 a0001c0001t0009g0003 a0001c0001t0010g0032 a0001c0001t0015g0107 a0001c0001t0018g0097 a0002c0002t0001g0002 a0002c0002t0001g0043	159	388	0.4098	25	c.178 others(42): Show c.178-3835_178-3834insGCTAATGGCTATCATATGAGCAGTG	C3orf14	ENSG00000114405.11	transcript	ENST00000462069.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
C3orf38_chr3_88144959_88162965	88162142	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	25	c.55 others(36): Show c.5507_*5508insAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf38	ENSG00000179021.10	transcript	ENST00000318887.8	protein_coding		4178		chr3	TogoVar
C3orf80_chr3_160220422_160233213	160223765	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	25	c.-18 others(36): Show c.-1871_-1870insAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf80	ENSG00000180044.6	transcript	ENST00000326474.5	protein_coding		1656		chr3	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(11): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01433.hp2 HG02132.hp2 HG02300.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 NA18979.hp1 NA18993.hp2 NA19066.hp2 NA19088.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0002c0002t0008	a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0109 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0109 a0001c0001t0001g0213 a0001c0001t0001g0272 a0001c0001t0002g0004 a0001c0001t0002g0220 a0001c0001t0003g0148 a0001c0001t0003g0293 a0001c0001t0003g0300 a0001c0001t0012g0179 a0002c0002t0008g0003	14	354	0.0396	25	c.-72 others(44): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37532512	T T	TTTTTAAA others(18): Show TTTTTAAAAATAATTAAAAAATAGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0348 a0001c0001t0009g0348	1	354	0.0028	25	c.-72 others(44): Show c.-72-25504_-72-25503insATTAAAAAATAGTATTTTAAAAATA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18964.hp1 NA19064.hp2 HG02970.hp1 NA18964.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0178 a0001c0001t0001g0291 a0001c0001t0003g0116 a0001c0001t0001g0178 a0001c0001t0001g0291 a0001c0001t0003g0116	3	354	0.0085	25	c.57 others(36): Show c.5736_*5737insTATATATATATATATATATATTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(18): Show ATATATATATATATATATATGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0241 a0001c0001t0003g0242	2	354	0.0057	25	c.57 others(36): Show c.5736_*5737insTATATATATATATATATATGTATAT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02293.hp2 NA18979.hp2 others(1): Show HG00558.hp2 HG02293.hp2 NA18979.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0002c0002t0004 a0001c0001t0002 a0001c0001t0007 a0002c0002t0004	a0001c0001t0002g0138 a0001c0001t0002g0305 a0001c0001t0007g0199 others(1): Show a0001c0001t0002g0138 a0001c0001t0002g0305 a0001c0001t0007g0199 a0002c0002t0004g0321	4	354	0.0113	25	c.57 others(36): Show c.5736_*5737insTATATATATATATATATATTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 NA19007.hp1 HG04199.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0259 a0001c0001t0002g0029 a0001c0001t0002g0259	2	354	0.0057	25	c.57 others(36): Show c.5736_*5737insTATATATATATATATATTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18988.hp2 HG01069.hp1 HG01071.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0248 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0002g0248 a0001c0001t0003g0141 a0001c0001t0003g0142	3	354	0.0085	25	c.57 others(36): Show c.5736_*5737insTATATATATATATATTTTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf33_chr4_129091152_129121637	129106296	A A	AACTGGCT others(18): Show AACTGGCTCAAAGTTTATGTGATAAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	396	0.0025	25	c.182 others(40): Show c.182-290_182-266dupACTGGCTCAAAGTTTATGTGATAAT	C4orf33	ENSG00000151470.13	transcript	ENST00000425929.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0232 a0001c0001t0004g0232	1	358	0.0028	25	c.715 others(42): Show c.715-1621_715-1620insATATATATATATATATATATATATT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02976.hp2 HG01975.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	2	358	0.0056	25	c.715 others(42): Show c.715-1621_715-1620insATATATATATATATATATATATTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443343	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	358	0.0028	25	c.715 others(42): Show c.715-1621_715-1620insATATATATATATATATATATATATA	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7			chr4	TogoVar
C4orf54_chr4_99631529_99662828	99643792	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	392	0.0026	25	c.37 others(42): Show c.37-2597_*37-2596insGTGTGTGTGTGTGTGTGTGTGTGTG	C4orf54	ENSG00000248713.2	transcript	ENST00000511828.2	protein_coding	2/2			chr4	TogoVar
C5orf46_chr5_147887722_147911538	147911208	G G	GTCTATTC others(18): Show GTCTATTCTATTCTATTCTATTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02015.hp1 HG02083.hp1 others(19): Show HG01175.hp1 HG02015.hp1 HG02083.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02622.hp2 HG02723.hp2 HG02738.hp2 HG03130.hp1 HG03139.hp1 HG04228.hp2 NA18942.hp1 NA18962.hp2 NA18986.hp1 NA18997.hp1 NA19005.hp2 NA19060.hp2 NA19082.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0002c0005 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0003 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0037 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0122 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0001g0050 a0002c0003t0001g0076 a0002c0004t0001g0070 a0002c0005t0003g0030 a0003c0002t0001g0002 a0003c0002t0001g0005 a0003c0002t0001g0007 a0003c0002t0001g0019 a0003c0002t0001g0096	22	452	0.0487	25	c.-47 others(36): Show c.-4708_-4707insATAGAATAGAATAGAATAGAATAGA	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4671		chr5	TogoVar
C6orf89_chr6_36880952_36933964	36907275	C C	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG02630.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0094 a0001c0002t0019g0095 a0001c0002t0019g0094 a0001c0002t0019g0095	2	396	0.0051	25	c.403 others(42): Show c.403+4856_403+4880dupGTTTTGTTTTGTTTTGTTTTGTTTT	C6orf89	ENSG00000198663.17	transcript	ENST00000480824.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01361.hp1 others(11): Show HG00140.hp1 HG00140.hp2 HG01361.hp1 HG01975.hp1 HG02004.hp1 HG02155.hp2 HG02300.hp1 HG03704.hp1 NA18951.hp1 NA18953.hp1 NA18962.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0008	a0003c0003 a0005c0005 a0006c0006 others(1): Show a0003c0003 a0005c0005 a0006c0006 a0008c0008	a0003c0003t0001 a0005c0005t0001 a0006c0006t0017 others(1): Show a0003c0003t0001 a0005c0005t0001 a0006c0006t0017 a0008c0008t0001	a0003c0003t0001g0215 a0003c0003t0001g0234 a0003c0003t0001g0242 others(11): Show a0003c0003t0001g0215 a0003c0003t0001g0234 a0003c0003t0001g0242 a0003c0003t0001g0249 a0003c0003t0001g0332 a0003c0003t0001g0342 a0003c0003t0001g0350 a0003c0003t0001g0361 a0005c0005t0001g0088 a0005c0005t0001g0094 a0005c0005t0001g0132 a0005c0005t0001g0139 a0006c0006t0017g0112 a0008c0008t0001g0317	14	380	0.0368	25	c.216 others(42): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C8orf34_chr8_68325955_68824023	68331783	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0086 a0002c0003t0001g0086	1	128	0.0078	25	c.327 others(40): Show c.327+449_327+473dupTTTTTTTTTTTTTTTTTTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68376184	C C	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02965.hp1 others(1): Show HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0005t0001g0043 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0005t0001g0043 a0001c0005t0003g0046	4	128	0.0313	25	c.327 others(44): Show c.327+44852_327+44876dupTAAAATAAAATAAAATAAAATAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774349	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0045 a0002c0007t0001g0045	1	128	0.0078	25	c.140 others(44): Show c.1405-2050_1405-2049insTATATATATATATATATATATATAT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13			chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01261.hp2 others(4): Show HG01081.hp2 HG01109.hp2 HG01261.hp2 HG02622.hp1 HG02723.hp1 HG03453.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0004t0002 a0003c0006t0004	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0002t0001g0009 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0002t0001g0009 a0002c0003t0001g0031 a0002c0003t0001g0036 a0002c0004t0002g0121 a0003c0006t0004g0124	7	128	0.0547	25	c.140 others(44): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(18): Show TATATATATATATATATATACATACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0062 a0002c0003t0005g0062	1	128	0.0078	25	c.154 others(44): Show c.1549+6970_1549+6971insATATATATATATATATATACATACA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C8orf58_chr8_22594599_22609142	22599061	T T	TCCCTCCT others(18): Show TCCCTCCTCTCTCGCCCCTCCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	332	0.0030	25	c.-66 others(34): Show c.-660_-659insCCCTCCTCTCTCGCCCCTCCCTCTC	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		537		chr8	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	466	0.0022	25	c.20 others(36): Show c.2030_*2054dupTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209887	A A	AGAAAGAA others(18): Show AGAAAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	25	c.-23 others(36): Show c.-2309_-2308insCTCTTCTCTTCTCTTCTCTTCTTTC	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1729		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00738.hp1 others(35): Show HG00323.hp1 HG00323.hp2 HG00738.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp1 HG02717.hp1 HG02738.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA19005.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0041 a0001c0002t0003 a0001c0003t0013	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0123 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0012g0018 a0001c0001t0012g0041 a0001c0001t0014g0014 a0001c0001t0027g0061 a0001c0001t0041g0104 a0001c0002t0003g0082 a0001c0003t0013g0024	38	466	0.0816	25	c.-23 others(36): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0309 a0001c0001t0006g0309	1	356	0.0028	25	c.86- others(38): Show c.86-923_86-922insGAAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA18947.hp1 HG01175.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0069 a0001c0001t0001g0028 a0001c0001t0001g0069	2	400	0.0050	25	c.-13 others(36): Show c.-1350_-1349insAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA9_chr9_35668928_35686159	35681501	G G	GGACATCT others(18): Show GGACATCTTTGGAGAAGGGGAATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	446	0.0022	25	c.47 others(34): Show c.476_*477insGACATCTTTGGAGAAGGGGAATTAT	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		343		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0026 a0002c0007t0011g0026	1	372	0.0027	25	c.666 others(44): Show c.666-11415_666-11414insATATATATATATATATATATATATA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(18): Show TATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03239.hp2 NA19030.hp1 others(1): Show HG02809.hp1 HG03239.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0316 others(1): Show a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0316 a0001c0001t0003g0043	4	324	0.0124	25	c.565 others(42): Show c.565-1883_565-1882insGATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	342	0.0029	25	c.-43 others(44): Show c.-43-11127_-43-11126insAAAAATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0020 a0001c0001t0010g0260 a0001c0001t0004g0020 a0001c0001t0010g0260	2	342	0.0059	25	c.-43 others(44): Show c.-43-11128_-43-11127insTATATATATATATATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18990.hp1 HG03453.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0033 a0001c0001t0006 a0001c0001t0033	a0001c0001t0006g0211 a0001c0001t0033g0172 a0001c0001t0006g0211 a0001c0001t0033g0172	2	342	0.0059	25	c.115 others(42): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	A A	AGTTTTGT others(18): Show AGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp2 HG03516.hp1 others(2): Show HG03130.hp2 HG03471.hp2 HG03516.hp1 NA18962.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0001 a0001c0001t0009 a0001c0001t0010	a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0320 others(2): Show a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0320 a0001c0001t0009g0319 a0001c0001t0010g0318	5	342	0.0146	25	c.115 others(42): Show c.115-7415_115-7391dupTGTTTTGTTTTGTTTTGTTTTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABIN1_chr22_24006304_24183628	24042877	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	268	0.0037	25	c.346 others(38): Show c.346-27_346-26insGTGTGTGTGTGTGTGTGTGTGTGTG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36			chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	268	0.0037	25	c.474 others(44): Show c.4746+2133_4746+2134insTTTTTTTTTTTTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0135 a0001c0001t0072g0135	1	376	0.0027	25	c.20 others(36): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0003 a0003c0056t0003	a0003c0056t0003g0057 a0003c0056t0003g0057	1	218	0.0046	25	c.166 others(44): Show c.1669-1958_1669-1957insATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02602.hp1 HG03516.hp1 HG02572.hp2 HG02602.hp1 HG03516.hp1	a0014 a0015 a0014 a0015	a0014c0111 a0014c0115 a0015c0021 a0014c0111 a0014c0115 a0015c0021	a0014c0111t0004 a0014c0115t0004 a0015c0021t0010 a0014c0111t0004 a0014c0115t0004 a0015c0021t0010	a0014c0111t0004g0210 a0014c0115t0004g0066 a0015c0021t0010g0045 a0014c0111t0004g0210 a0014c0115t0004g0066 a0015c0021t0010g0045	3	218	0.0138	25	c.166 others(44): Show c.1669-1960_1669-1959insATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0081 a0001c0004t0032g0081	1	218	0.0046	25	c.166 others(44): Show c.1669-1962_1669-1961insATATATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137993354	G G	GTCTAGAT others(18): Show GTCTAGATAGATTAAATTTTTGTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(143): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0006 a0007 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0002 a0001c0003 a0001c0005 others(37): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0032 a0001c0041 a0001c0044 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0002c0001 a0002c0004 a0002c0008 a0004c0023 a0004c0025 a0004c0029 a0004c0055 a0005c0024 a0005c0038 a0005c0039 a0006c0014 a0006c0026 a0007c0016 a0014c0031 a0015c0049 a0016c0030 a0017c0047 a0018c0046 a0019c0045 a0020c0052 a0021c0027 a0022c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(67): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0006 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0041t0001 a0001c0044t0005 a0001c0048t0006 a0001c0050t0040 a0001c0051t0007 a0001c0053t0028 a0002c0001t0002 a0002c0001t0020 a0002c0004t0001 a0002c0008t0001 a0004c0023t0008 a0004c0023t0042 a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0055t0022 a0005c0024t0011 a0005c0038t0023 a0005c0039t0032 a0006c0014t0006 a0006c0026t0006 a0007c0016t0007 a0014c0031t0002 a0015c0049t0002 a0016c0030t0003 a0017c0047t0006 a0018c0046t0016 a0019c0045t0007 a0020c0052t0006 a0021c0027t0024 a0022c0028t0021	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(143): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0030g0120 a0001c0002t0033g0025 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0016 a0001c0003t0005g0021 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0034g0109 a0001c0003t0043g0127 a0001c0003t0044g0011 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0007t0001g0034 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0043 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0003g0049 a0001c0018t0009g0029 a0001c0018t0018g0033 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0071 a0001c0041t0001g0182 a0001c0044t0005g0239 a0001c0048t0006g0101 a0001c0050t0040g0129 a0001c0051t0007g0108 a0001c0053t0028g0105 a0002c0001t0002g0042 a0002c0001t0020g0030 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0175 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0008t0001g0174 a0004c0023t0008g0077 a0004c0023t0042g0076 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 a0004c0055t0022g0009 a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0038t0023g0020 a0005c0039t0032g0079 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143 a0006c0026t0006g0144 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097 a0017c0047t0006g0116 a0018c0046t0016g0110 a0019c0045t0007g0117 a0020c0052t0006g0115 a0021c0027t0024g0149 a0022c0028t0021g0156	146	248	0.5887	25	c.197 others(44): Show c.1974+6520_1974+6521insGTCTATCTAGATAGATTAAATTTTT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03492.hp1 HG04204.hp2 others(5): Show HG01099.hp2 HG03492.hp1 HG04204.hp2 NA18954.hp2 NA18955.hp2 NA18990.hp1 NA18998.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0004 a0001c0002 a0001c0007 a0002c0004	a0001c0002t0001 a0001c0002t0021 a0001c0002t0030 others(2): Show a0001c0002t0001 a0001c0002t0021 a0001c0002t0030 a0001c0007t0001 a0002c0004t0001	a0001c0002t0001g0039 a0001c0002t0001g0061 a0001c0002t0001g0063 others(5): Show a0001c0002t0001g0039 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0021g0075 a0001c0002t0030g0120 a0001c0007t0001g0034 a0002c0004t0001g0017 a0002c0004t0001g0019	8	248	0.0323	25	c.509 others(44): Show c.5095-2025_5095-2024insAAAAAAAAAAAAAAAAAAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar

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