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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CACNG5_chr17_66830117_66899751	66862352	CCAATCCA others(23): Show CCAATCCAGCTTGTGTCACTTACAAGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(125): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03239.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0050 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0067 a0001c0001t0078 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0111 a0001c0002t0006 a0001c0004t0011 a0002c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 others(110): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0002g0001 a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0191 a0001c0001t0002g0271 a0001c0001t0002g0320 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0192 a0001c0001t0003g0227 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0004g0143 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0171 a0001c0001t0004g0179 a0001c0001t0004g0198 a0001c0001t0005g0002 a0001c0001t0005g0161 a0001c0001t0005g0249 a0001c0001t0006g0004 a0001c0001t0006g0162 a0001c0001t0006g0165 a0001c0001t0006g0180 a0001c0001t0006g0234 a0001c0001t0006g0238 a0001c0001t0007g0012 a0001c0001t0007g0015 a0001c0001t0007g0128 a0001c0001t0007g0157 a0001c0001t0010g0201 a0001c0001t0012g0251 a0001c0001t0014g0104 a0001c0001t0014g0106 a0001c0001t0015g0149 a0001c0001t0016g0007 a0001c0001t0016g0081 a0001c0001t0020g0014 a0001c0001t0020g0100 a0001c0001t0021g0120 a0001c0001t0023g0175 a0001c0001t0023g0176 a0001c0001t0023g0181 a0001c0001t0030g0155 a0001c0001t0030g0244 a0001c0001t0031g0173 a0001c0001t0031g0257 a0001c0001t0032g0099 a0001c0001t0032g0174 a0001c0001t0033g0151 a0001c0001t0033g0240 a0001c0001t0034g0001 a0001c0001t0037g0004 a0001c0001t0041g0146 a0001c0001t0041g0183 a0001c0001t0044g0231 a0001c0001t0047g0144 a0001c0001t0050g0002 a0001c0001t0058g0012 a0001c0001t0059g0248 a0001c0001t0062g0160 a0001c0001t0067g0197 a0001c0001t0078g0046 a0001c0001t0091g0252 a0001c0001t0093g0170 a0001c0001t0094g0217 a0001c0001t0095g0306 a0001c0001t0096g0275 a0001c0001t0102g0147 a0001c0001t0111g0133 a0001c0002t0006g0235 a0001c0004t0011g0230 a0002c0008t0001g0052	128	372	0.3441	-30	c.-10 others(51): Show c.-103-14852_-103-14823delTGTCACAATCCAGCTTGTGTCACT TACAAG		CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
CADM1_chr11_115164236_115509415	115400657	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01258.hp1 others(12): Show HG00735.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG02300.hp1 HG02698.hp1 HG02895.hp1 HG02922.hp1 HG03490.hp1 HG03491.hp2 HG04115.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0001t0037 a0001c0001t0052	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0060 others(12): Show a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0091 a0001c0001t0002g0154 a0001c0001t0003g0085 a0001c0001t0003g0145 a0001c0001t0004g0076 a0001c0001t0004g0137 a0001c0001t0006g0101 a0001c0001t0014g0049 a0001c0001t0026g0018 a0001c0001t0037g0109 a0001c0001t0052g0104	15	164	0.0915	-30	c.124 others(51): Show c.124+103584_124+103613delTATATATATATATATATATATATA TACACA		CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11						chr11	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0072 a0001c0001t0039g0072	1	146	0.0069	-30	c.61+ others(49): Show c.61+361469_61+361498delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85442588	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	146	0.0069	-30	c.62- others(49): Show c.62-283918_62-283889delATATATATATATATATATATATATAT ATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543233	TATTTATT others(23): Show TATTTATTTATTTATTTATTTTTTATTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(50): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02630.hp2 HG02683.hp2 HG02818.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19003.hp2 NA19009.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0065 others(50): Show a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0003g0113 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0007g0082 a0001c0001t0010g0020 a0001c0001t0012g0057 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0043 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0028g0122 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072 a0001c0001t0041g0056 a0001c0001t0044g0041 a0001c0001t0045g0134 a0001c0004t0001g0111	53	146	0.3630	-30	c.62- others(49): Show c.62-183288_62-183259delATTTATTTATTTATTTATTTTTTATT TTTA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9						chr3	TogoVar
CADM2_chr3_84953989_86079429	85697083	CCATATAT others(23): Show CCATATATATATATGCCATATATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0056 a0001c0001t0041g0056	1	146	0.0069	-30	c.62- others(47): Show c.62-29424_62-29395delCCATATATATATATGGCATATATATATA TG		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769488	CATATATA others(23): Show CATATATACATATATGTATATATACACGTAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0039 a0001c0001t0018g0039	1	146	0.0069	-30	c.89- others(47): Show c.89-32555_89-32526delTATACATATATGTATATATACACGTATA TA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122323873	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01255.hp2 others(6): Show HG00280.hp1 HG01109.hp2 HG01255.hp2 HG03017.hp2 HG03669.hp1 HG03669.hp2 NA18999.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0050 others(6): Show a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0009g0029 a0001c0002t0002g0016 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0097	9	126	0.0714	-30	c.371 others(49): Show c.3717+1574_3717+1603delTATATATATATATATATATATATATA TATA		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	29/29						chr7	TogoVar
CADPS_chr3_62393348_62880416	62593549	AGCCCCAG others(23): Show AGCCCCAGGTCCAGGGCACCTGTTCCATTGC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	160	0.0063	-30	c.132 others(47): Show c.1326-831_1326-802delGCAATGGAACAGGTGCCCTGGACCTGGG GC		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29						chr3	TogoVar
CALB1_chr8_90053608_90087879	90077135	TCTTATCC others(23): Show TCTTATCCTTGATGGTTTCATACCTTGATTA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	384	0.0026	-30	c.231 others(47): Show c.231+1208_231+1237delTAATCAAGGTATGAAACCATCAAGGATA AG		CALB1	ENSG00000104327.7	transcript	ENST00000265431.7	protein_coding	3/10						chr8	TogoVar
CALCOCO2_chr17_48826035_48870245	48852574	GTTAGAGC others(23): Show GTTAGAGCAGCTGAAAAAGGAAAATGACCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0013 a0005c0007t0008g0013	1	328	0.0031	-30	c.772 others(37): Show c.772_801delTTAGAGCAGCTGAAAAAGGAAAATGACCAC	p.Leu others(13): Show p.Leu258_His267del	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	8/13	826/3635	772/1341	258/446			chr17	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 NA18950.hp2 NA18960.hp1 others(3): Show HG01256.hp2 NA18950.hp2 NA18960.hp1 NA18992.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0095 a0001c0002t0005g0307 a0001c0002t0005g0308 others(3): Show a0001c0001t0001g0095 a0001c0002t0005g0307 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0005g0311	6	344	0.0174	-30	c.50 others(41): Show c.5058_*5087delATATATATATATATATATATATATATATAT		CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding					867		chr2	TogoVar
CALCR_chr7_93419486_93579724	93576491	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01358.hp1 HG02004.hp2 others(2): Show HG00738.hp2 HG01358.hp1 HG02004.hp2 HG03579.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0002c0002t0002 a0001c0001t0019 a0002c0002t0002	a0001c0001t0019g0010 a0002c0002t0002g0107 a0002c0002t0002g0151 others(2): Show a0001c0001t0019g0010 a0002c0002t0002g0107 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153	5	292	0.0171	-30	c.-20 others(41): Show c.-2074_-2045delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding					1768		chr7	TogoVar
CALHM5_chr6_116506639_116529788	116516660	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0005 a0001c0001t0075g0005	1	402	0.0025	-30	c.69 others(39): Show c.691_*720delTATATATATATATATATATATATATATATA		CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2				691	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALN1_chr7_71774491_72417338	71798093	GAGAGAGA others(23): Show GAGAGAGACAGAGAGAGACAGAGACAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0114 a0001c0001t0010g0114	1	142	0.0070	-30	c.659 others(49): Show c.659-10221_659-10192delGTCTCTGTCTCTGTCTCTCTCTGTCT CTCT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	71798101	CAGAGAGA others(23): Show CAGAGAGAGACAGAGACAGAGACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 NA19002.hp2 others(1): Show HG02717.hp2 HG03130.hp2 NA19002.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0048	a0001c0001t0001g0103 a0001c0001t0002g0118 a0001c0001t0012g0008 others(1): Show a0001c0001t0001g0103 a0001c0001t0002g0118 a0001c0001t0012g0008 a0001c0001t0048g0129	4	142	0.0282	-30	c.659 others(49): Show c.659-10229_659-10200delCTCTCTCTGTCTCTGTCTCTGTCTCT CTCT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	71897988	AAAAAGAG others(23): Show AAAAAGAGAGAGAGAGGGAGGGAGGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0100 a0001c0001t0013g0062 a0001c0001t0004g0100 a0001c0001t0013g0062	2	142	0.0141	-30	c.502 others(49): Show c.502-87526_502-87497delCCCCCCCCTCCCTCCCTCTCTCTCTC TTTT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12751051	AATAAGAT others(23): Show AATAAGATAAGATAAGATAAGATAAGATAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01928.hp2 HG02132.hp2 others(22): Show HG00558.hp1 HG01928.hp2 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp2 HG03486.hp1 NA18522.hp1 NA18945.hp1 NA18959.hp2 NA18974.hp2 NA18983.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 a0001c0001t0039 a0001c0001t0062 a0001c0001t0088 a0001c0001t0091 a0001c0002t0015 a0001c0002t0021 a0001c0002t0026 a0001c0002t0045 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0073 a0001c0003t0007	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0095 others(22): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0002g0041 a0001c0001t0002g0139 a0001c0001t0005g0204 a0001c0001t0006g0075 a0001c0001t0007g0068 a0001c0001t0009g0072 a0001c0001t0009g0213 a0001c0001t0019g0086 a0001c0001t0026g0143 a0001c0001t0039g0014 a0001c0001t0062g0144 a0001c0001t0088g0087 a0001c0001t0091g0030 a0001c0002t0015g0148 a0001c0002t0021g0048 a0001c0002t0026g0166 a0001c0002t0045g0118 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053 a0001c0002t0073g0058 a0001c0003t0007g0063	25	214	0.1168	-30	c.300 others(47): Show c.300-9850_300-9821delTAAGATAAGATAAGATAAGATAAGATAA GA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227456	AGTGTGGG others(23): Show AGTGTGGGGGACAGAAGGGGGTATGGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0189 a0001c0002t0006g0188 a0001c0002t0001g0189 a0001c0002t0006g0188	2	242	0.0083	-30	c.146 others(47): Show c.1469-842_1469-813delGCCCCCCATACCCCCTTCTGTCCCCCAC AC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44287211	AAGCCCCA others(23): Show AAGCCCCAAACCTTCTCTGAGTCCCAATGTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG02886.hp2 HG01074.hp1 HG01099.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0003 a0001c0002t0019 a0001c0019t0004 a0001c0001t0003 a0001c0002t0019 a0001c0019t0004	a0001c0001t0003g0217 a0001c0002t0019g0095 a0001c0019t0004g0216 a0001c0001t0003g0217 a0001c0002t0019g0095 a0001c0019t0004g0216	3	242	0.0124	-30	c.66- others(45): Show c.66-3016_66-2987delGACATTGGGACTCAGAGAAGGTTTGGGGCT		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23						chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200773887	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0016 a0004c0006t0016	a0004c0006t0016g0005 a0004c0006t0016g0005	1	366	0.0027	-30	c.399 others(49): Show c.399+12828_399+12857delATAAAATAAAATAAAATAAAATAAAA TAAA		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816803	CGTGTATA others(23): Show CGTGTATATATGTGTGTACACACACACGCGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	366	0.0027	-30	c.645 others(47): Show c.645+1166_645+1195delATATGTGTGTACACACACACGCGTGTGT AT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816817	TGTACACA others(23): Show TGTACACACACACGCGTGTGTATGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	366	0.0027	-30	c.645 others(47): Show c.645+1174_645+1203delGTACACACACACGCGTGTGTATGTGTGT AC		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16						chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816935	CGTGTGTA others(23): Show CGTGTGTATGTGTGTACACACACACGCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0028	1	366	0.0027	-30	c.645 others(47): Show c.645+1294_645+1323delGTGTATGTGTGTACACACACACGCGTGT GT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7270192	TATATATA others(23): Show TATATATATACACATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02280.hp2 others(11): Show HG01243.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03486.hp2 HG03704.hp2 NA19043.hp2 NA20805.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0006c0007 a0008c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0002t0006 a0001c0002t0010 a0001c0005t0005 a0001c0006t0001 a0001c0006t0005 a0001c0010t0004 a0006c0007t0014 a0008c0011t0016	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0046 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0046 a0001c0001t0004g0034 a0001c0001t0008g0003 a0001c0001t0015g0037 a0001c0002t0006g0008 a0001c0002t0010g0010 a0001c0005t0005g0044 a0001c0006t0001g0055 a0001c0006t0005g0057 a0001c0010t0004g0031 a0006c0007t0014g0018 a0008c0011t0016g0029	14	58	0.2414	-30	c.438 others(49): Show c.438+20586_438+20615delTACATATATACATATATATACACATA TATA		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004170	GGGTTAGG others(23): Show GGGTTAGGGAGAGGGGAGTTAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0266 a0001c0002t0008g0266	1	394	0.0025	-30	c.-14 others(49): Show c.-147+5464_-147+5493delTCCCTCTCCCTAACTCCCCTCTCCCT AACC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79004396	AGGGGAGT others(23): Show AGGGGAGTTAGGGAGAGGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	394	0.0025	-30	c.-14 others(49): Show c.-147+5238_-147+5267delCCTCCCTAACTCCCCTCTCCCTAACT CCCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79004826	AGGGGAGT others(23): Show AGGGGAGTTAGGGAGAGGGGATTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0269 a0001c0001t0029g0269	1	394	0.0025	-30	c.-14 others(49): Show c.-147+4808_-147+4837delCCTCCCTAAATCCCCTCTCCCTAACT CCCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79005085	GGGGAGTT others(23): Show GGGGAGTTAGGGAGAGGGGGGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(69): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG01168.hp2 HG01243.hp1 HG01433.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03225.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0003t0002	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0086 others(43): Show a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0004g0049 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0002t0002g0012 a0001c0002t0002g0098 a0001c0002t0003g0004 a0001c0002t0003g0011 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0193 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0203 a0001c0002t0003g0220 a0001c0002t0003g0226 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0005g0042 a0001c0002t0005g0084 a0001c0002t0005g0087 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0184 a0001c0002t0005g0192 a0001c0002t0006g0227 a0001c0002t0013g0053 a0001c0002t0024g0204 a0001c0002t0025g0264 a0001c0002t0028g0265 a0001c0003t0002g0007 a0001c0003t0002g0058 a0001c0003t0002g0066 a0001c0003t0002g0069 a0001c0003t0002g0186	72	394	0.1827	-30	c.-14 others(49): Show c.-147+4549_-147+4578delTTCTCCCTAACCCCCCTCTCCCTAAC TCCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79005105	GTTAGGGA others(23): Show GTTAGGGAGAAGGGAGTTAGGGAGAGGGGAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01891.hp1 NA18943.hp2 others(4): Show HG00408.hp1 HG01891.hp1 NA18943.hp2 NA18950.hp2 NA18951.hp2 NA18969.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0008 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0002g0008 a0001c0002t0005g0078 a0001c0002t0005g0079	7	394	0.0178	-30	c.-14 others(49): Show c.-147+4529_-147+4558delATCCCCTCTCCCTAACTCCCTTCTCC CTAA		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CANT1_chr17_78986716_79014764	79005183	GGAAGGGA others(23): Show GGAAGGGAGTTAGGGAGAGGGGAGTTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0260 a0001c0002t0006g0260	1	394	0.0025	-30	c.-14 others(49): Show c.-147+4451_-147+4480delTCCCTAACTCCCCTCTCCCTAACTCC CTTC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CAPN10_chr2_240581734_240604104	240590567	AAGAGTTC others(23): Show AAGAGTTCTCTGCGACATCCAGGTGTGCCGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0002 a0014c0021t0002	a0014c0021t0002g0048 a0014c0021t0002g0048	1	412	0.0024	-30	c.274 others(45): Show c.274-160_274-131delCGTAGAGTTCTCTGCGACATCCAGGTGTGC		CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN12_chr19_38725192_38749474	38735767	GGGGGCGG others(23): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	342	0.0029	-30	c.158 others(47): Show c.1584-253_1584-224delGCCCCCAGAACCCCCGCCCCGCCCCGCC CC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN13_chr2_30717771_30812446	30758789	TCCTTTCC others(23): Show TCCTTTCCTTCCTCCCTCCCTTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18963.hp2 NA18975.hp2 others(3): Show HG00423.hp2 NA18963.hp2 NA18975.hp2 NA19057.hp1 NA19068.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0047 a0001c0001t0002g0183 a0001c0001t0002g0249 others(3): Show a0001c0001t0002g0047 a0001c0001t0002g0183 a0001c0001t0002g0249 a0001c0001t0002g0252 a0002c0003t0001g0171 a0002c0003t0001g0181	6	384	0.0156	-30	c.775 others(45): Show c.775-682_775-653delGAGGAAGGGAAGGGAGGGAGGAAGGAAAGG		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22						chr2	TogoVar
CAPN9_chr1_230742388_230806989	230751579	AAGAAACA others(23): Show AAGAAACAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG01258.hp1 others(10): Show HG00741.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG02572.hp1 NA18944.hp1 NA18974.hp2 NA18990.hp1 NA18994.hp2 NA19065.hp2 NA19088.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0005 a0002c0006 others(1): Show a0001c0002 a0001c0005 a0002c0006 a0008c0011	a0001c0002t0001 a0001c0005t0001 a0002c0006t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0002c0006t0001 a0008c0011t0001	a0001c0002t0001g0247 a0001c0002t0001g0294 a0001c0002t0001g0295 others(9): Show a0001c0002t0001g0247 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0326 a0001c0005t0001g0002 a0001c0005t0001g0300 a0002c0006t0001g0302 a0008c0011t0001g0301	13	394	0.0330	-30	c.214 others(47): Show c.214-3752_214-3723delCAAAGAAAGAAAGAAAGAAAGAAAGAGA AA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(23): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01106.hp1 others(18): Show HG00639.hp2 HG00735.hp1 HG01106.hp1 HG01169.hp1 HG01433.hp1 HG01891.hp1 HG01952.hp2 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02257.hp1 HG02273.hp2 HG02572.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02976.hp2 HG03139.hp2 NA18906.hp2 NA19006.hp2 NA19072.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0020	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0002c0006 a0002c0009 a0003c0004 a0004c0007 a0006c0025 a0020c0026	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 a0002c0009t0001 a0003c0004t0001 a0004c0007t0001 a0006c0025t0001 a0020c0026t0001	a0001c0001t0001g0079 a0001c0001t0001g0270 a0001c0003t0001g0375 others(18): Show a0001c0001t0001g0079 a0001c0001t0001g0270 a0001c0003t0001g0375 a0001c0003t0001g0376 a0001c0003t0001g0377 a0001c0003t0001g0379 a0001c0005t0001g0053 a0001c0005t0001g0055 a0001c0005t0001g0056 a0002c0006t0001g0269 a0002c0006t0001g0338 a0002c0006t0001g0378 a0002c0009t0001g0080 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0271 a0003c0004t0001g0341 a0003c0004t0001g0342 a0004c0007t0001g0072 a0006c0025t0001g0036 a0020c0026t0001g0054	21	394	0.0533	-30	c.214 others(47): Show c.214-3726_214-3697delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75291567	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	370	0.0027	-30	c.112 others(47): Show c.1126+147_1126+176delTATATATATATATATATATATATATATA TA		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16						chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116890541	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(22): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG02109.hp1 HG02145.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0011 a0001c0001t0001g0200 a0001c0001t0001g0204 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0001g0347 a0001c0001t0009g0226 a0001c0001t0009g0242 a0001c0001t0009g0286	25	354	0.0706	-30	c.103 others(47): Show c.103+2383_104-2392delTATATATATATATATATATATATATACA CA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890581	TATATATA others(23): Show TATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18987.hp2 HG01934.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0306 a0001c0002t0004g0326 a0001c0002t0004g0306 a0001c0002t0004g0326	2	354	0.0057	-30	c.103 others(47): Show c.103+2393_104-2382delTATATATATATATATACACACACACACA CA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19087.hp2 HG02630.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0341 a0001c0001t0001g0006 a0001c0001t0002g0341	2	364	0.0055	-30	c.3+1 others(45): Show c.3+13541_3+13570delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8						chr1	TogoVar
CARD11_chr7_2901142_3048867	2933692	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03704.hp2 HG02886.hp2 HG03704.hp2	a0001 a0001	a0001c0039 a0001c0064 a0001c0039 a0001c0064	a0001c0039t0001 a0001c0064t0001 a0001c0039t0001 a0001c0064t0001	a0001c0039t0001g0313 a0001c0064t0001g0087 a0001c0039t0001g0313 a0001c0064t0001g0087	2	322	0.0062	-30	c.151 others(47): Show c.1518+731_1518+760delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24						chr7	TogoVar
CARD9_chr9_136358956_136378669	136375372	CCTGCTTC others(23): Show CCTGCTTCTCTGACAGGAGGGCAGCCGGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	406	0.0025	-30	c.-18 others(41): Show c.-1887_-1858delACCCCGGCTGCCCTCCTGTCAGAGAAGCAG		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding					1704		chr9	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18946.hp1 HG00673.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0096 a0001c0001t0095 a0001c0001t0096	a0001c0001t0095g0225 a0001c0001t0096g0097 a0001c0001t0095g0225 a0001c0001t0096g0097	2	334	0.0060	-30	c.155 others(47): Show c.1559-922_1559-893delTATATATATATATATATATATATATATA TA		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASC3_chr17_40135537_40177171	40140373	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	266	0.0038	-30	c.-17 others(39): Show c.-175_-146delACACACACACACACACACACACACACACAC		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					163		chr17	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG01891.hp1 NA19066.hp1 NA19083.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0007t0027 a0001c0001t0001 a0001c0001t0005 a0001c0007t0027	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0005g0064 others(3): Show a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0103 a0001c0007t0027g0160	6	164	0.0366	-30	c.172 others(49): Show c.172+23389_172+23418delATATATATATATATATATATATATAT ATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASP3_chr4_184622696_184654447	184624483	GGCCTCCA others(23): Show GGCCTCCATCACTGACCTGTTTCTGACCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	366	0.0027	-30	c.47 others(41): Show c.4759_*4788delTGTGGTCAGAAACAGGTCAGTGATGGAGGC		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3212		chr4	TogoVar
CASP3_chr4_184622696_184654447	184624568	TCCACAGC others(23): Show TCCACAGCCTCCATCACTGACCTGTTTCTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01496.hp2 HG04184.hp2 HG01081.hp1 HG01496.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0142 a0001c0001t0005g0049 a0001c0001t0001g0142 a0001c0001t0005g0049	3	366	0.0082	-30	c.46 others(41): Show c.4674_*4703delTCAGAAACAGGTCAGTGATGGAGGCTGTGG		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3127		chr4	TogoVar
CASP3_chr4_184622696_184654447	184624644	CTGACCTG others(23): Show CTGACCTGTTTCTGACCACAGCCTCCATCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	366	0.0027	-30	c.45 others(41): Show c.4598_*4627delATGATGGAGGCTGTGGTCAGAAACAGGTCA		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3051		chr4	TogoVar
CASP5_chr11_104989243_105028168	105009736	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0324 a0006c0008t0001g0324	1	396	0.0025	-30	c.8-7 others(41): Show c.8-786_8-757delGTGTGTGTATATATATATATATATATATAT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar
CASP5_chr11_104989243_105028168	105009766	CACACGTA others(23): Show CACACGTATATATATATATATACACACGTAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp1 HG02572.hp1 others(13): Show HG01070.hp1 HG01243.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03831.hp1 NA21309.hp2	a0005 a0006 a0008 others(1): Show a0005 a0006 a0008 a0009	a0005c0006 a0006c0008 a0008c0007 others(1): Show a0005c0006 a0006c0008 a0008c0007 a0009c0009	a0005c0006t0001 a0006c0008t0001 a0008c0007t0001 others(1): Show a0005c0006t0001 a0006c0008t0001 a0008c0007t0001 a0009c0009t0001	a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(10): Show a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 a0005c0006t0001g0312 a0005c0006t0001g0313 a0005c0006t0001g0316 a0006c0008t0001g0044 a0006c0008t0001g0227 a0006c0008t0001g0322 a0006c0008t0001g0323 a0008c0007t0001g0317 a0009c0009t0001g0081 a0009c0009t0001g0228	16	396	0.0404	-30	c.8-8 others(41): Show c.8-816_8-787delATACGTGTGTATATATATATATATACGTGT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar

Search by Variant

Search

Search Results (Total: 5732 hits)