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
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0010 a0004c0004t0010	a0004c0004t0010g0097 a0004c0004t0010g0097	1	328	0.0031	25	c.912 others(42): Show c.912+1385_912+1386insATATATATATATATATATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0204 a0002c0002t0001g0204	1	328	0.0031	25	c.912 others(42): Show c.912+1385_912+1386insATATATATATATATATATTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48855362	G G	GCATTACT others(18): Show GCATTACTACCTCAGGGTCGGCTAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	328	0.0031	25	c.913 others(40): Show c.913-726_913-702dupTACTACCTCAGGGTCGGCTAGACAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857974	C C	CAATAGAA others(18): Show CAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	328	0.0031	25	c.100 others(44): Show c.1008+1835_1008+1859dupTAGAATAGAATAGAATAGAATAGAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	AAATAGAA others(18): Show AAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG00738.hp2 others(39): Show HG00423.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG03486.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18966.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0027 a0002c0002t0001 a0002c0002t0023 a0003c0006t0015	a0001c0001t0002g0001 a0001c0001t0002g0157 a0001c0001t0002g0158 others(39): Show a0001c0001t0002g0001 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0262 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0321 a0001c0001t0006g0272 a0001c0001t0022g0253 a0001c0001t0027g0290 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0173 a0002c0002t0001g0179 a0002c0002t0001g0182 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0203 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0306 a0002c0002t0023g0135 a0003c0006t0015g0011	42	328	0.1281	25	c.100 others(44): Show c.1008+1863_1008+1887dupAGAATAGAATAGAATAGAATAGAAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	432	0.0023	25	c.34+ others(40): Show c.34+3016_34+3040dupTTTTTTTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0296 a0001c0001t0001g0297	2	432	0.0046	25	c.34+ others(40): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAG	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	71847719	G G	GAAGAAAG others(18): Show GAAGAAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG02080.hp1 others(8): Show HG01884.hp1 HG01934.hp1 HG02080.hp1 HG02486.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019 a0001c0001t0049 a0001c0001t0061	a0001c0001t0002g0036 a0001c0001t0002g0059 a0001c0001t0002g0113 others(8): Show a0001c0001t0002g0036 a0001c0001t0002g0059 a0001c0001t0002g0113 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0010g0106 a0001c0001t0016g0081 a0001c0001t0019g0060 a0001c0001t0019g0070 a0001c0001t0049g0130 a0001c0001t0061g0142	11	142	0.0775	25	c.502 others(44): Show c.502-37228_502-37227insTCTTCTTTCTTCTTTCTTCTTTCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71944484	C C	CTTGGGAG others(18): Show CTTGGGAGGCTGAGGCAGGAGAATCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0103 a0001c0001t0009g0102 a0001c0001t0001g0103 a0001c0001t0009g0102	2	142	0.0141	25	c.501 others(44): Show c.501+79148_501+79172dupCGATTCTCCTGCCTCAGCCTCCCAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02683.hp1 HG02145.hp1 HG02622.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0029 a0001c0001t0009g0031 a0001c0001t0012g0011 a0001c0001t0009g0029 a0001c0001t0009g0031 a0001c0001t0012g0011	3	142	0.0211	25	c.501 others(42): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081406	G G	GTGTGTGT others(18): Show GTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0122 a0001c0001t0040g0122	1	142	0.0070	25	c.388 others(44): Show c.388+24744_388+24745insACACACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(18): Show AAATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp2 HG01433.hp2 others(4): Show HG00323.hp2 HG01071.hp2 HG01433.hp2 HG01496.hp2 HG02015.hp2 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021 a0001c0001t0040	a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0002g0085 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0108 a0001c0001t0002g0085 a0001c0001t0003g0123 a0001c0001t0008g0027 a0001c0001t0021g0068 a0001c0001t0040g0122	7	142	0.0493	25	c.244 others(44): Show c.244+73134_244+73135insATATATATATATATATGTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0042 a0001c0001t0015g0042	1	142	0.0070	25	c.244 others(42): Show c.244+7110_244+7111insATATATATTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02895.hp1 HG02129.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0072 a0001c0001t0005g0219 a0001c0001t0002g0072 a0001c0001t0005g0219	2	338	0.0059	25	c.844 others(40): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAAAAA	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12520943	A A	AGGGAGGG others(18): Show AGGGAGGGGGAGGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0210 a0001c0001t0075g0210	1	214	0.0047	25	c.93- others(42): Show c.93-32279_93-32255dupGAGGGGGAGGGGGAGGGGGAGGGGG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12595342	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	214	0.0047	25	c.224 others(44): Show c.224+42008_224+42009insAAAAAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12620186	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18948.hp2 HG02055.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0016 a0001c0002t0008g0205 a0001c0001t0001g0016 a0001c0002t0008g0205	2	214	0.0094	25	c.225 others(44): Show c.225-46542_225-46518dupAAAAAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12672901	T T	TTTTTTTT others(18): Show TTTTTTTTTGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03490.hp1 HG03491.hp2 others(4): Show HG01069.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp2 NA18990.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0036 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0036 a0001c0001t0086 a0001c0002t0023 a0001c0002t0051	a0001c0001t0001g0071 a0001c0001t0018g0013 a0001c0001t0036g0022 others(4): Show a0001c0001t0001g0071 a0001c0001t0018g0013 a0001c0001t0036g0022 a0001c0001t0086g0181 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0051g0179	7	214	0.0327	25	c.299 others(42): Show c.299+6099_299+6100insGTTTTTTTTTTTTTTTGTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694186	T T	TATATTAT others(18): Show TATATTATATAAAATATATATTATGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp2 HG04204.hp1 HG00735.hp2 HG03490.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0034 a0001c0002t0060 a0001c0001t0002 a0001c0001t0034 a0001c0002t0060	a0001c0001t0002g0172 a0001c0001t0034g0083 a0001c0002t0060g0104 a0001c0001t0002g0172 a0001c0001t0034g0083 a0001c0002t0060g0104	3	214	0.0140	25	c.299 others(44): Show c.299+27379_299+27380insTTATATAAAATATATATTATGCATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44580243	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02698.hp1 HG01975.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0177 a0001c0001t0001g0149 a0001c0001t0001g0177	2	198	0.0101	25	c.377 others(46): Show c.377-124017_377-124016insATAAAATAAAATAAAATAAAATAA A	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG03225.hp2 others(2): Show HG02630.hp1 HG03195.hp1 HG03225.hp2 HG03927.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0178 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0178 a0001c0001t0001g0198 a0001c0001t0003g0007 a0001c0001t0003g0013	5	198	0.0253	25	c.377 others(44): Show c.377-89323_377-89322insTTTTTTTTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	340	0.0029	25	c.161 others(42): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATAATTTT others(18): Show ATAATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	58	0.0172	25	c.438 others(44): Show c.438+26678_438+26679insAATTTTTTTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004330	G G	GCTGGGGG others(18): Show GCTGGGGGGGAGTTATGGAGCAAGGA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0120 a0001c0002t0005g0120	1	394	0.0025	25	c.-14 others(44): Show c.-147+5333_-147+5334insTCCTTGCTCCATAACTCCCCCCCAG	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02132.hp1 NA20805.hp1 HG00733.hp2 HG02132.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0085 a0001c0001t0003g0227 a0001c0001t0019g0112 a0001c0001t0003g0085 a0001c0001t0003g0227 a0001c0001t0019g0112	3	380	0.0079	25	c.721 others(40): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	206	0.0049	25	c.-2+ others(42): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17406412	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02818.hp1 HG02622.hp1 HG02647.hp2 HG02818.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0015 a0001c0001 a0005c0015	a0001c0001t0001 a0005c0015t0001 a0001c0001t0001 a0005c0015t0001	a0001c0001t0001g0068 a0001c0001t0001g0086 a0005c0015t0001g0070 a0001c0001t0001g0068 a0001c0001t0001g0086 a0005c0015t0001g0070	3	206	0.0146	25	c.-2+ others(42): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTTTTTTCT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182305	A A	ACACTCAC others(18): Show ACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0185 a0003c0003t0002g0185	1	460	0.0022	25	c.193 others(42): Show c.1939-633_1939-632insTCACATACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735670	C C	CGCGGGGC others(18): Show CGCGGGGCGGGGGTTCTGGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0261 a0001c0011t0003g0261	1	342	0.0029	25	c.158 others(42): Show c.1584-151_1584-127dupCCCGCCCCCAGAACCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735817	G G	GCGGGCGG others(18): Show GCGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	342	0.0029	25	c.158 others(42): Show c.1584-274_1584-273insGCCCCGCCCCGCCCCGCCCCGCCCG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735912	C C	CGGGGCGG others(18): Show CGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0019 a0015c0033t0019	a0015c0033t0019g0178 a0015c0033t0019g0178	1	342	0.0029	25	c.158 others(42): Show c.1583+173_1583+197dupCAGAACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735962	G G	GGGGGCGG others(18): Show GGGGGCGGGGCGGGGGTTCTGGGGGC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	342	0.0029	25	c.158 others(42): Show c.1583+147_1583+148insGCCCCCAGAACCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30758789	T T	TCCTTTCC others(18): Show TCCTTTCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00639.hp1 others(58): Show HG00323.hp1 HG00621.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02155.hp1 HG02647.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03710.hp1 NA18941.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0010 a0004c0005 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0002c0003t0001 a0003c0004t0002 a0003c0004t0005 a0003c0010t0002 a0004c0005t0001 a0006c0007t0005 a0007c0008t0001	a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0271 others(57): Show a0001c0001t0001g0090 a0001c0001t0001g0142 a0001c0001t0001g0271 a0001c0001t0002g0061 a0001c0001t0005g0158 a0001c0001t0005g0289 a0001c0001t0006g0359 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0046 a0001c0002t0001g0060 a0001c0002t0001g0192 a0001c0002t0001g0248 a0001c0002t0001g0291 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0349 a0001c0002t0001g0362 a0001c0002t0002g0008 a0001c0002t0002g0207 a0001c0002t0002g0258 a0001c0002t0004g0037 a0001c0002t0004g0076 a0001c0002t0006g0163 a0001c0002t0010g0364 a0002c0003t0001g0329 a0003c0004t0002g0013 a0003c0004t0002g0016 a0003c0004t0002g0018 a0003c0004t0002g0052 a0003c0004t0002g0056 a0003c0004t0002g0065 a0003c0004t0002g0067 a0003c0004t0002g0072 a0003c0004t0002g0077 a0003c0004t0002g0083 a0003c0004t0002g0097 a0003c0004t0002g0132 a0003c0004t0002g0135 a0003c0004t0002g0168 a0003c0004t0002g0178 a0003c0004t0002g0206 a0003c0004t0002g0219 a0003c0004t0002g0251 a0003c0004t0002g0255 a0003c0004t0002g0256 a0003c0004t0002g0261 a0003c0004t0002g0314 a0003c0004t0005g0117 a0003c0010t0002g0057 a0004c0005t0001g0080 a0006c0007t0005g0262 a0007c0008t0001g0276 a0007c0008t0001g0281	61	384	0.1589	25	c.775 others(40): Show c.775-653_775-652insGAGGGAGGGAGGGAGGAAGGAAAGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30758790	C C	CCTTTCCT others(18): Show CCTTTCCTTCCTCCCTCCCTCCCACT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18982.hp2 NA19078.hp1 NA18964.hp2 NA18982.hp2 NA19078.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0005 a0003c0004t0002 a0003c0004t0005	a0003c0004t0002g0205 a0003c0004t0002g0292 a0003c0004t0005g0374 a0003c0004t0002g0205 a0003c0004t0002g0292 a0003c0004t0005g0374	3	384	0.0078	25	c.775 others(40): Show c.775-654_775-653insAGTGGGAGGGAGGGAGGAAGGAAAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31210460	C C	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0294 a0002c0037t0001g0294	1	326	0.0031	25	c.-52 others(42): Show c.-52-4986_-52-4962dupTTTATTTTATTTTATTTTATTTTAT	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	1/21			chr2	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(18): Show TCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA19043.hp1 HG02895.hp1 HG02897.hp1 NA19043.hp1	a0002 a0007 a0002 a0007	a0002c0033 a0007c0020 a0002c0033 a0007c0020	a0002c0033t0003 a0007c0020t0006 a0002c0033t0003 a0007c0020t0006	a0002c0033t0003g0363 a0007c0020t0006g0147 a0007c0020t0006g0148 a0002c0033t0003g0363 a0007c0020t0006g0147 a0007c0020t0006g0148	3	410	0.0073	25	c.-22 others(42): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223741435	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0013 a0005c0009t0013	a0005c0009t0013g0350 a0005c0009t0013g0350	1	378	0.0027	25	c.308 others(42): Show c.308-2665_308-2664insTATATATATATATATATATATATAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20			chr1	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG06807.hp1 HG02559.hp2 HG06807.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0199 a0005c0008t0001g0200	2	306	0.0065	25	c.310 others(42): Show c.310-3731_310-3730insATATATATATATATATATATATTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN5_chr11_77061971_77131155	77099402	G G	GAGCCGAG others(18): Show GAGCCGAGATCACGCCACTGCACTCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0313 a0001c0001t0003g0313	1	382	0.0026	25	c.297 others(42): Show c.297+5594_297+5618dupGAGATCACGCCACTGCACTCCAGCC	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPS2_chr12_75270979_75335324	75292614	T T	TATCTATA others(18): Show TATCTATACATATTATGTATGTATAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	370	0.0027	25	c.104 others(42): Show c.1049+610_1049+634dupCTATACATACATAATATGTATAGAT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	12/16			chr12	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03486.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0356 a0001c0001t0001g0357	2	364	0.0055	25	c.93+ others(40): Show c.93+2776_93+2800dupTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2933702	T T	TTCTTTCT others(18): Show TTCTTTCTTCCCTCCTTCCATCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG03098.hp2 others(1): Show HG02630.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0010 a0001c0044 a0001c0010 a0001c0044	a0001c0010t0002 a0001c0044t0003 a0001c0010t0002 a0001c0044t0003	a0001c0010t0002g0034 a0001c0010t0002g0097 a0001c0010t0002g0188 others(1): Show a0001c0010t0002g0034 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0044t0003g0267	4	322	0.0124	25	c.151 others(42): Show c.1518+750_1518+751insGAAAGATGGAAGGAGGGAAGAAAGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	2933706	T T	TTCTTTCT others(18): Show TTCTTTCTTCCCTCCTTCCATCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0001 a0001c0006t0005g0001	1	322	0.0031	25	c.151 others(42): Show c.1518+746_1518+747insGAAAGATGGAAGGAGGGAAGAAAGA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24			chr7	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(18): Show ATATTTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp1 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0001 a0001c0001t0001 a0001c0028t0001	a0001c0001t0001g0065 a0001c0028t0001g0301 a0001c0001t0001g0065 a0001c0028t0001g0301	2	322	0.0062	25	c.-12 others(46): Show c.-126+20731_-126+20732insATATATATATATATATATATAAAT A	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01074.hp2 others(17): Show HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02145.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02886.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0021	a0001c0001 a0001c0007 a0001c0021 others(10): Show a0001c0001 a0001c0007 a0001c0021 a0001c0023 a0001c0025 a0001c0030 a0001c0063 a0001c0067 a0002c0045 a0003c0010 a0003c0013 a0013c0028 a0021c0065	a0001c0001t0012 a0001c0007t0002 a0001c0021t0007 others(11): Show a0001c0001t0012 a0001c0007t0002 a0001c0021t0007 a0001c0023t0012 a0001c0025t0002 a0001c0030t0024 a0001c0063t0002 a0001c0067t0006 a0002c0045t0007 a0003c0010t0005 a0003c0010t0013 a0003c0013t0002 a0013c0028t0005 a0021c0065t0022	a0001c0001t0012g0047 a0001c0007t0002g0020 a0001c0021t0007g0049 others(17): Show a0001c0001t0012g0047 a0001c0007t0002g0020 a0001c0021t0007g0049 a0001c0021t0007g0050 a0001c0021t0007g0051 a0001c0023t0012g0059 a0001c0025t0002g0031 a0001c0030t0024g0054 a0001c0063t0002g0014 a0001c0067t0006g0027 a0002c0045t0007g0056 a0003c0010t0005g0052 a0003c0010t0005g0053 a0003c0010t0005g0086 a0003c0010t0013g0301 a0003c0010t0013g0302 a0003c0013t0002g0303 a0013c0028t0005g0058 a0013c0028t0005g0085 a0021c0065t0022g0311	20	376	0.0532	25	c.-57 others(36): Show c.-5713_-5712insATTTTATTTTATTTTATTTTATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01099.hp1 NA18952.hp2 others(1): Show HG01070.hp1 HG01099.hp1 NA18952.hp2 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0002 a0001c0002t0002 a0001c0012t0002	a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0107 others(1): Show a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0107 a0001c0012t0002g0330	4	470	0.0085	25	c.31 others(36): Show c.3162_*3186dupAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02135.hp2 HG01123.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0194 a0001c0001t0001g0056 a0001c0001t0001g0194	2	470	0.0043	25	c.-7- others(40): Show c.-7-2679_-7-2655dupAAAAAAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(18): Show TTCTCTTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG03225.hp1 others(2): Show HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 NA19003.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005 a0005c0030	a0001c0001t0015 a0001c0002t0001 a0001c0006t0002 others(2): Show a0001c0001t0015 a0001c0002t0001 a0001c0006t0002 a0002c0005t0006 a0005c0030t0005	a0001c0001t0015g0184 a0001c0002t0001g0005 a0001c0006t0002g0099 others(2): Show a0001c0001t0015g0184 a0001c0002t0001g0005 a0001c0006t0002g0099 a0002c0005t0006g0021 a0005c0030t0005g0159	5	186	0.0269	25	c.614 others(40): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18949.hp2 HG03195.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0007g0141 a0001c0001t0001g0078 a0001c0001t0007g0141	2	186	0.0108	25	c.615 others(42): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG01243.hp2 HG02572.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0035 a0001c0003 a0008c0035	a0001c0003t0023 a0008c0035t0004 a0001c0003t0023 a0008c0035t0004	a0001c0003t0023g0161 a0008c0035t0004g0107 a0001c0003t0023g0161 a0008c0035t0004g0107	2	186	0.0108	25	c.206 others(42): Show c.2067+868_2067+892dupAAAAAAAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar

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