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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Select column to sort.

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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
CABS1_chr4_70329981_70342116	70334333	AAAAAAAA others(18): Show AAAAAAAAAACAAAAAACAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01943.hp2 others(8): Show HG00544.hp1 HG00621.hp1 HG01943.hp2 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG02976.hp1 HG03139.hp1 HG06807.hp2 NA18959.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0001t0001g0003 a0001c0002t0001g0002	11	446	0.0247	-25	c.-70 others(34): Show c.-706_-682delAAAAAAAAACAAAAAACAAAAAAAG		CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding					647		chr4	TogoVar
CACNA1A_chr19_13201442_13511479	13234731	TCCCCTAC others(18): Show TCCCCTACCGGAAGAGAAGGGCACGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(62): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG04115.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18998.hp2 NA19012.hp2 NA19065.hp1 NA19079.hp2 NA19084.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0019 a0020 a0021 a0022 a0030 a0031 a0034 a0041 a0042 a0043 a0045	a0001c0004 a0001c0005 a0001c0006 others(47): Show a0001c0004 a0001c0005 a0001c0006 a0001c0018 a0001c0026 a0001c0122 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0070 a0002c0104 a0003c0013 a0003c0046 a0003c0077 a0003c0094 a0003c0108 a0004c0007 a0004c0080 a0005c0024 a0005c0066 a0005c0102 a0006c0011 a0006c0029 a0007c0009 a0007c0075 a0007c0100 a0007c0118 a0008c0008 a0008c0012 a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0128 a0012c0023 a0012c0065 a0014c0048 a0019c0079 a0020c0078 a0021c0092 a0022c0095 a0030c0062 a0031c0061 a0034c0081 a0041c0067 a0042c0097 a0043c0091 a0045c0036	a0001c0004t0001 a0001c0005t0047 a0001c0006t0008 others(55): Show a0001c0004t0001 a0001c0005t0047 a0001c0006t0008 a0001c0006t0009 a0001c0018t0001 a0001c0026t0001 a0001c0122t0001 a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0003 a0002c0010t0002 a0002c0019t0002 a0002c0019t0003 a0002c0070t0007 a0002c0104t0040 a0003c0013t0007 a0003c0046t0003 a0003c0077t0039 a0003c0094t0018 a0003c0108t0012 a0004c0007t0009 a0004c0007t0010 a0004c0080t0009 a0005c0024t0006 a0005c0066t0001 a0005c0102t0003 a0006c0011t0003 a0006c0029t0002 a0006c0029t0003 a0007c0009t0003 a0007c0009t0034 a0007c0075t0003 a0007c0100t0017 a0007c0118t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0014t0046 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0083t0014 a0010c0128t0010 a0012c0023t0003 a0012c0065t0017 a0014c0048t0001 a0019c0079t0007 a0020c0078t0019 a0021c0092t0016 a0022c0095t0003 a0030c0062t0002 a0031c0061t0003 a0034c0081t0019 a0041c0067t0002 a0042c0097t0005 a0043c0091t0005 a0045c0036t0028	a0001c0004t0001g0097 a0001c0005t0047g0024 a0001c0006t0008g0134 others(62): Show a0001c0004t0001g0097 a0001c0005t0047g0024 a0001c0006t0008g0134 a0001c0006t0009g0189 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0026t0001g0144 a0001c0122t0001g0174 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0095 a0002c0002t0003g0181 a0002c0003t0002g0053 a0002c0003t0003g0061 a0002c0003t0003g0127 a0002c0003t0003g0177 a0002c0010t0002g0054 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0070t0007g0102 a0002c0104t0040g0156 a0003c0013t0007g0041 a0003c0046t0003g0116 a0003c0077t0039g0022 a0003c0094t0018g0208 a0003c0108t0012g0211 a0004c0007t0009g0147 a0004c0007t0010g0062 a0004c0080t0009g0129 a0005c0024t0006g0117 a0005c0066t0001g0034 a0005c0102t0003g0122 a0006c0011t0003g0070 a0006c0029t0002g0197 a0006c0029t0003g0169 a0007c0009t0003g0031 a0007c0009t0003g0069 a0007c0009t0034g0163 a0007c0075t0003g0190 a0007c0100t0017g0039 a0007c0118t0002g0052 a0008c0008t0002g0099 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0014t0046g0176 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0083t0014g0159 a0010c0128t0010g0139 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0014c0048t0001g0146 a0019c0079t0007g0067 a0020c0078t0019g0151 a0021c0092t0016g0203 a0022c0095t0003g0183 a0030c0062t0002g0124 a0031c0061t0003g0106 a0034c0081t0019g0152 a0041c0067t0002g0172 a0042c0097t0005g0059 a0043c0091t0005g0027 a0045c0036t0028g0173	65	218	0.2982	-25	c.524 others(42): Show c.5249+165_5249+189delGCGTGCCCTTCTCTTCCGGTAGGGG		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	34/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13234744	GAGAAGGG others(18): Show GAGAAGGGCACGCCCCCTACCGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19030.hp1 HG02970.hp1 NA19030.hp1	a0002 a0002	a0002c0085 a0002c0117 a0002c0085 a0002c0117	a0002c0085t0005 a0002c0117t0009 a0002c0085t0005 a0002c0117t0009	a0002c0085t0005g0085 a0002c0117t0009g0079 a0002c0085t0005g0085 a0002c0117t0009g0079	2	218	0.0092	-25	c.524 others(42): Show c.5249+152_5249+176delTTTCCGGTAGGGGGCGTGCCCTTCT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	34/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13341309	TCTTGATG others(18): Show TCTTGATGGTCTGTGGCCCAGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0043	a0001c0001 a0001c0004 a0001c0005 others(91): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0018 a0001c0020 a0001c0026 a0001c0031 a0001c0034 a0001c0037 a0001c0038 a0001c0049 a0001c0058 a0001c0071 a0001c0072 a0001c0106 a0001c0120 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0050 a0002c0070 a0002c0082 a0002c0085 a0002c0086 a0002c0117 a0003c0013 a0003c0015 a0003c0039 a0003c0046 a0003c0054 a0003c0055 a0003c0056 a0003c0073 a0003c0077 a0003c0094 a0003c0108 a0003c0116 a0004c0047 a0004c0080 a0004c0093 a0004c0123 a0005c0022 a0005c0024 a0005c0066 a0006c0011 a0006c0060 a0007c0009 a0007c0075 a0007c0118 a0008c0008 a0008c0012 a0009c0051 a0009c0076 a0010c0053 a0010c0107 a0011c0025 a0011c0043 a0012c0023 a0012c0065 a0013c0027 a0013c0089 a0014c0048 a0015c0021 a0016c0028 a0017c0127 a0018c0017 a0019c0079 a0020c0074 a0020c0078 a0021c0090 a0021c0092 a0022c0095 a0023c0113 a0024c0059 a0025c0041 a0026c0042 a0027c0064 a0028c0119 a0029c0063 a0030c0062 a0031c0061 a0032c0045 a0033c0088 a0034c0081 a0035c0057 a0036c0052 a0037c0087 a0038c0044 a0039c0068 a0040c0069 a0041c0067 a0043c0091	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(111): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0005t0001 a0001c0005t0005 a0001c0005t0008 a0001c0005t0047 a0001c0006t0005 a0001c0006t0008 a0001c0018t0001 a0001c0020t0001 a0001c0026t0001 a0001c0026t0031 a0001c0031t0013 a0001c0031t0036 a0001c0034t0001 a0001c0037t0004 a0001c0038t0007 a0001c0049t0001 a0001c0058t0004 a0001c0071t0013 a0001c0072t0037 a0001c0106t0001 a0001c0120t0004 a0002c0002t0015 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0010t0002 a0002c0010t0003 a0002c0019t0002 a0002c0019t0003 a0002c0050t0002 a0002c0070t0007 a0002c0082t0003 a0002c0085t0005 a0002c0086t0003 a0002c0117t0009 a0003c0013t0007 a0003c0013t0018 a0003c0013t0027 a0003c0015t0008 a0003c0039t0009 a0003c0046t0003 a0003c0054t0043 a0003c0055t0044 a0003c0056t0003 a0003c0073t0042 a0003c0077t0039 a0003c0094t0018 a0003c0108t0012 a0003c0116t0045 a0004c0047t0001 a0004c0080t0009 a0004c0093t0010 a0004c0123t0009 a0005c0022t0004 a0005c0022t0010 a0005c0024t0006 a0005c0024t0008 a0005c0066t0001 a0006c0011t0002 a0006c0011t0003 a0006c0060t0002 a0007c0009t0038 a0007c0075t0003 a0007c0118t0002 a0008c0008t0002 a0008c0012t0003 a0008c0012t0006 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0107t0021 a0011c0025t0001 a0011c0025t0011 a0011c0043t0015 a0012c0023t0003 a0012c0065t0017 a0013c0027t0001 a0013c0089t0001 a0014c0048t0001 a0015c0021t0004 a0015c0021t0010 a0016c0028t0007 a0017c0127t0001 a0018c0017t0014 a0019c0079t0007 a0020c0074t0012 a0020c0078t0019 a0021c0090t0007 a0021c0092t0016 a0022c0095t0003 a0023c0113t0013 a0024c0059t0023 a0025c0041t0004 a0026c0042t0001 a0027c0064t0004 a0028c0119t0026 a0029c0063t0002 a0030c0062t0002 a0031c0061t0003 a0032c0045t0005 a0033c0088t0001 a0034c0081t0019 a0035c0057t0020 a0036c0052t0006 a0037c0087t0001 a0038c0044t0005 a0039c0068t0001 a0040c0069t0014 a0041c0067t0002 a0043c0091t0005	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(139): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0155 a0001c0001t0004g0218 a0001c0001t0005g0168 a0001c0004t0001g0078 a0001c0005t0001g0187 a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0008g0204 a0001c0005t0047g0024 a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0051 a0001c0020t0001g0188 a0001c0026t0001g0144 a0001c0026t0031g0104 a0001c0031t0013g0123 a0001c0031t0036g0215 a0001c0034t0001g0072 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0049t0001g0012 a0001c0058t0004g0083 a0001c0071t0013g0138 a0001c0072t0037g0213 a0001c0106t0001g0121 a0001c0120t0004g0014 a0002c0002t0015g0160 a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0002g0126 a0002c0003t0003g0061 a0002c0003t0003g0127 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0003t0007g0086 a0002c0010t0002g0054 a0002c0010t0002g0064 a0002c0010t0003g0023 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0050t0002g0088 a0002c0070t0007g0102 a0002c0082t0003g0058 a0002c0085t0005g0085 a0002c0086t0003g0035 a0002c0117t0009g0079 a0003c0013t0007g0041 a0003c0013t0018g0063 a0003c0013t0027g0149 a0003c0015t0008g0036 a0003c0039t0009g0075 a0003c0046t0003g0116 a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0056t0003g0057 a0003c0073t0042g0026 a0003c0077t0039g0022 a0003c0094t0018g0208 a0003c0108t0012g0211 a0003c0116t0045g0111 a0004c0047t0001g0178 a0004c0080t0009g0129 a0004c0093t0010g0046 a0004c0123t0009g0077 a0005c0022t0004g0092 a0005c0022t0010g0109 a0005c0024t0006g0117 a0005c0024t0008g0214 a0005c0066t0001g0034 a0006c0011t0002g0098 a0006c0011t0002g0133 a0006c0011t0003g0070 a0006c0060t0002g0016 a0007c0009t0038g0153 a0007c0075t0003g0190 a0007c0118t0002g0052 a0008c0008t0002g0033 a0008c0008t0002g0065 a0008c0008t0002g0099 a0008c0008t0002g0125 a0008c0012t0003g0015 a0008c0012t0003g0091 a0008c0012t0006g0120 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0107t0021g0004 a0011c0025t0001g0093 a0011c0025t0011g0038 a0011c0043t0015g0043 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0013c0027t0001g0118 a0013c0027t0001g0179 a0013c0089t0001g0143 a0014c0048t0001g0146 a0015c0021t0004g0044 a0015c0021t0010g0045 a0016c0028t0007g0073 a0016c0028t0007g0084 a0017c0127t0001g0007 a0018c0017t0014g0216 a0019c0079t0007g0067 a0020c0074t0012g0161 a0020c0078t0019g0151 a0021c0090t0007g0162 a0021c0092t0016g0203 a0022c0095t0003g0183 a0023c0113t0013g0096 a0024c0059t0023g0001 a0025c0041t0004g0107 a0026c0042t0001g0089 a0027c0064t0004g0101 a0028c0119t0026g0131 a0029c0063t0002g0196 a0030c0062t0002g0124 a0031c0061t0003g0106 a0032c0045t0005g0191 a0033c0088t0001g0207 a0034c0081t0019g0152 a0035c0057t0020g0002 a0036c0052t0006g0154 a0037c0087t0001g0103 a0038c0044t0005g0175 a0039c0068t0001g0171 a0040c0069t0014g0040 a0041c0067t0002g0172 a0043c0091t0005g0027	142	218	0.6514	-25	c.979 others(42): Show c.979-5425_979-5401delGTCAGCTGGGCCACAGACCATCAAG		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376830	CATGTTAT others(18): Show CATGTTATATGTGATATATAACACAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18975.hp1 NA18948.hp2 NA18975.hp1	a0005 a0028 a0005 a0028	a0005c0102 a0028c0119 a0005c0102 a0028c0119	a0005c0102t0003 a0028c0119t0026 a0005c0102t0003 a0028c0119t0026	a0005c0102t0003g0122 a0028c0119t0026g0131 a0005c0102t0003g0122 a0028c0119t0026g0131	2	218	0.0092	-25	c.540 others(42): Show c.540-5076_540-5052delATGTGTTATATATCACATATAACAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497502	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0158 a0002c0030t0002g0158	1	218	0.0046	-25	c.293 others(42): Show c.293+8405_293+8429delATATATTTTTTTTTTTTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497514	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0094 a0003c0094	a0003c0094t0018 a0003c0094t0018	a0003c0094t0018g0208 a0003c0094t0018g0208	1	218	0.0046	-25	c.293 others(42): Show c.293+8393_293+8417delATATATATATATATATATTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0014 a0001 a0014	a0001c0034 a0014c0111 a0001c0034 a0014c0111	a0001c0034t0001 a0014c0111t0004 a0001c0034t0001 a0014c0111t0004	a0001c0034t0001g0072 a0014c0111t0004g0210 a0001c0034t0001g0072 a0014c0111t0004g0210	2	218	0.0092	-25	c.293 others(42): Show c.293+8391_293+8415delATATATATATATATATATATTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497518	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02129.hp2 others(3): Show HG01099.hp2 HG01884.hp1 HG02129.hp2 HG06807.hp2 NA18980.hp1 NA19079.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0006 a0003c0035 a0004c0123 others(3): Show a0001c0006 a0003c0035 a0004c0123 a0006c0060 a0007c0009 a0007c0100	a0001c0006t0001 a0003c0035t0016 a0004c0123t0009 others(3): Show a0001c0006t0001 a0003c0035t0016 a0004c0123t0009 a0006c0060t0002 a0007c0009t0003 a0007c0100t0017	a0001c0006t0001g0032 a0003c0035t0016g0076 a0004c0123t0009g0077 others(3): Show a0001c0006t0001g0032 a0003c0035t0016g0076 a0004c0123t0009g0077 a0006c0060t0002g0016 a0007c0009t0003g0031 a0007c0100t0017g0039	6	218	0.0275	-25	c.293 others(42): Show c.293+8389_293+8413delATATATATATATATATATATATTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2104788	GTGCTGAT others(18): Show GTGCTGATAGGCGCCTTAGTTCAAGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0064 a0001c0010t0008g0064	1	104	0.0096	-25	c.50- others(42): Show c.50-10435_50-10411delTGCTGATAGGCGCCTTAGTTCAAGT		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46						chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2410868	TCCTATCC others(18): Show TCCTATCCTTCCCTTCTCCTGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp2 HG03225.hp2 others(3): Show HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0025 others(2): Show a0001c0001 a0001c0006 a0001c0025 a0002c0013 a0004c0039	a0001c0001t0004 a0001c0006t0001 a0001c0025t0007 others(2): Show a0001c0001t0004 a0001c0006t0001 a0001c0025t0007 a0002c0013t0035 a0004c0039t0009	a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0006t0001g0102 others(3): Show a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0006t0001g0102 a0001c0025t0007g0012 a0002c0013t0035g0035 a0004c0039t0009g0040	6	104	0.0577	-25	c.478 others(44): Show c.478-38081_478-38057delCTATCCTTCCCTTCTCCTGGCTGCC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D1_chr7_81941444_82448777	82185530	GAGGGGGA others(18): Show GAGGGGGAGGAAGGGGAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp2 HG02818.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0097 a0001c0001t0003g0076 a0001c0001t0002g0097 a0001c0001t0003g0076	2	144	0.0139	-25	c.295 others(44): Show c.295-14946_295-14922delTCCTCCCCCTCCCCTTCCTCCCCCT		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38						chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54687121	CTTTTTTT others(18): Show CTTTTTTTTTTTTTGTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01255.hp2 others(28): Show HG00280.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02300.hp1 HG02486.hp1 HG02622.hp1 HG02895.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0014 a0001c0021 a0001c0023 a0001c0025 a0001c0027 a0001c0030 a0001c0040 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0012t0005 a0001c0012t0011 a0001c0014t0001 a0001c0021t0002 a0001c0023t0001 a0001c0025t0004 a0001c0027t0001 a0001c0030t0001 a0001c0040t0001 a0002c0020t0001	a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0045 others(28): Show a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0003 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0003t0001g0026 a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0006t0001g0017 a0001c0008t0001g0092 a0001c0012t0005g0027 a0001c0012t0011g0036 a0001c0014t0001g0102 a0001c0021t0002g0023 a0001c0023t0001g0018 a0001c0025t0004g0106 a0001c0027t0001g0014 a0001c0030t0001g0028 a0001c0040t0001g0117 a0002c0020t0001g0021	31	118	0.2627	-25	c.116 others(46): Show c.1167+44885_1167+44909delTTTTTTTTTGTTTTTTTTTTTTTT T		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	118	0.0085	-25	c.138 others(44): Show c.1381-5362_1381-5338delTTTTTTTTTTTTTTTTTTTTTTTTT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54829988	AGGTTCAA others(18): Show AGGTTCAAGCAATTCTCTGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(94): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18979.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0007 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0010t0003 a0001c0010t0006 a0001c0011t0001 a0001c0011t0006 a0001c0012t0005 a0001c0012t0011 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0005 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0004 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0005 a0001c0037t0004 a0001c0038t0010 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 others(94): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0003 a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0002t0001g0020 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0070 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0004t0001g0022 a0001c0004t0001g0050 a0001c0004t0001g0095 a0001c0004t0002g0008 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0005t0001g0088 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0006t0007g0098 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0009t0001g0013 a0001c0009t0001g0113 a0001c0010t0001g0065 a0001c0010t0003g0057 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0012t0005g0027 a0001c0012t0011g0036 a0001c0013t0001g0093 a0001c0013t0001g0105 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0016t0005g0116 a0001c0017t0001g0025 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0023t0001g0018 a0001c0024t0001g0069 a0001c0025t0004g0106 a0001c0027t0001g0014 a0001c0028t0001g0090 a0001c0030t0001g0028 a0001c0031t0001g0032 a0001c0032t0001g0048 a0001c0033t0001g0114 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0037t0004g0019 a0001c0038t0010g0059 a0001c0039t0001g0047 a0001c0040t0001g0117 a0001c0041t0001g0085 a0001c0043t0001g0051 a0002c0020t0001g0021	97	118	0.8220	-25	c.139 others(44): Show c.1399-7147_1399-7123delCGGGTTCAAGCAATTCTCTGCCTCC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54830012	CGGGTTCA others(18): Show CGGGTTCAAGCAATTCTCTGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	118	0.0085	-25	c.139 others(44): Show c.1399-7123_1399-7099delCTGGGTTCAAGCAATTCTCTGCCTC		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54848347	CCAAAAGT others(18): Show CCAAAAGTGGTAGTGGTTGCTAGGGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	118	0.0085	-25	c.162 others(44): Show c.1626+1891_1626+1915delAGTGGTTGCTAGGGTCAAAAGTGGT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18155517	GCACATTC others(18): Show GCACATTCTTATGTGCTCCTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	200	0.0050	-25	c.213 others(42): Show c.213+4548_213+4572delTCTTATGTGCTCCTTTCATACACAT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18181562	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp2 HG01258.hp2 others(1): Show HG00738.hp1 HG01257.hp2 HG01258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0023 a0001c0002t0002 a0001c0001t0003 a0001c0001t0023 a0001c0002t0002	a0001c0001t0003g0193 a0001c0001t0023g0191 a0001c0001t0023g0192 others(1): Show a0001c0001t0003g0193 a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0002t0002g0187	4	200	0.0200	-25	c.213 others(44): Show c.213+30632_213+30656delATTTTATTTTATTTTATTTTATTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481206	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0085 a0001c0004t0010g0085	1	200	0.0050	-25	c.334 others(44): Show c.334-17147_334-17123delATATATATATATATATATATATATT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481216	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0008g0082 a0001c0001t0008g0083	2	200	0.0100	-25	c.334 others(44): Show c.334-17137_334-17113delATATATATATATATTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481218	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	200	0.0050	-25	c.334 others(44): Show c.334-17135_334-17111delATATATATATATTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481206	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 homoSapiens_chm13v2.hp1 HG02257.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0008 a0001c0001t0001 a0001c0004t0008	a0001c0001t0001g0259 a0001c0004t0008g0202 a0001c0001t0001g0259 a0001c0004t0008g0202	2	302	0.0066	-25	c.172 others(44): Show c.172-17147_172-17123delATATATATATATATATATATATATT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481216	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0161 a0001c0001t0007g0153 a0001c0001t0007g0161	2	302	0.0066	-25	c.172 others(44): Show c.172-17137_172-17113delATATATATATATATTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481218	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	302	0.0033	-25	c.172 others(44): Show c.172-17135_172-17111delATATATATATATTTTTTTTTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24257367	GGGAGAGA others(18): Show GGGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	366	0.0027	-25	c.211 others(40): Show c.211+404_211+428delGAGAGAGAGAGAGAGAGAGAGAGAG		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317639	AAAGAAAA others(18): Show AAAGAAAAGAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	366	0.0027	-25	c.212 others(44): Show c.212-29092_212-29068delGAAAAGAAAAGAAAGAAAGAAAGAA		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG7_chr19_53904278_53948950	53920225	CTGGTCAT others(18): Show CTGGTCATTGGTGGACTTGCCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	364	0.0055	-25	c.424 others(42): Show c.424+4721_424+4745delTGGTCATTGGTGGACTTGCCCCAGG		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920726	TCCCAGGC others(18): Show TCCCAGGCTGGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02559.hp2 others(2): Show HG01891.hp1 HG02451.hp2 HG02559.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0067	5	364	0.0137	-25	c.424 others(42): Show c.424+5225_424+5249delAGGCTGGTCATTGGTGGAGTTGCCC		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921159	CTGGTCAT others(18): Show CTGGTCATTGGTGGACTTGCCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	364	0.0028	-25	c.424 others(42): Show c.424+5655_424+5679delTGGTCATTGGTGGACTTGCCCCAGG		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922175	TCCCAGGC others(18): Show TCCCAGGCTGGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	364	0.0028	-25	c.424 others(42): Show c.424+6674_424+6698delAGGCTGGTCATTGGTGGAGTTGCCC		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923576	TCCCAGGC others(18): Show TCCCAGGCTGGTCATTGGTGGAGTTG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	364	0.0028	-25	c.424 others(42): Show c.424+8075_424+8099delAGGCTGGTCATTGGTGGAGTTGCCC		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85855602	CATATATA others(18): Show CATATATATATATATAAAACATATAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	146	0.0069	-25	c.239 others(44): Show c.239-27674_239-27650delAAAACATATATATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122477027	GGAGAGGA others(18): Show GGAGAGGAGAGGAGAGGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0114 a0001c0002t0002g0114	1	126	0.0079	-25	c.186 others(44): Show c.1862-2535_1862-2511delTCTCTCTCTCCTCTCCTCTCCTCTC		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	12/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122567083	TAAACTCC others(18): Show TAAACTCCAAATTCTACTAACCAATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0004 a0002c0006t0001 a0002c0006t0002 a0001c0002t0004 a0002c0006t0001 a0002c0006t0002	a0001c0002t0004g0067 a0002c0006t0001g0059 a0002c0006t0002g0055 a0001c0002t0004g0067 a0002c0006t0001g0059 a0002c0006t0002g0055	3	126	0.0238	-25	c.133 others(46): Show c.1336-12419_1336-12395delTATTGGTTAGTAGAATTTGGAGTT T		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29						chr7	TogoVar
CALCOCO2_chr17_48826035_48870245	48854832	GGAGCCTA others(18): Show GGAGCCTAGGAACAAGAAAGCGGCAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0053	1	328	0.0031	-25	c.913 others(42): Show c.913-1259_913-1235delGAGCCTAGGAACAAGAAAGCGGCAC		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12						chr17	TogoVar
CALN1_chr7_71774491_72417338	71971948	AAAAAAAA others(18): Show AAAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19002.hp1 NA18747.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0090 a0001c0001t0001g0101 a0001c0001t0002g0090	2	142	0.0141	-25	c.501 others(44): Show c.501+51684_501+51708delCTTTCTTTCTTTCTTTCTTTTTTTT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72114243	TGAAGGGA others(18): Show TGAAGGGAAGGGAAGGGAAGGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0056 a0001c0001t0004 a0001c0001t0056	a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0056g0137 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0056g0137	3	142	0.0211	-25	c.245 others(42): Show c.245-7974_245-7950delCCTTCCCTTCCCTTCCCTTCCCTTC		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691392	TATATATA others(18): Show TATATATATATAAATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG02257.hp1 HG00323.hp1 HG01168.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0079 a0001c0002t0010 a0001c0001t0003 a0001c0001t0079 a0001c0002t0010	a0001c0001t0003g0129 a0001c0001t0079g0151 a0001c0002t0010g0007 a0001c0001t0003g0129 a0001c0001t0079g0151 a0001c0002t0010g0007	3	214	0.0140	-25	c.299 others(44): Show c.299+24583_299+24607delATATATATATAAATATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691394	TATATATA others(18): Show TATATATATAAATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0020 a0001c0001t0108g0020	1	214	0.0047	-25	c.299 others(44): Show c.299+24585_299+24609delATATATATAAATATATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12734346	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG03130.hp1 HG02280.hp1 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0039 a0001c0002t0010 a0001c0001t0011 a0001c0001t0039 a0001c0002t0010	a0001c0001t0011g0018 a0001c0001t0039g0157 a0001c0002t0010g0079 a0001c0001t0011g0018 a0001c0001t0039g0157 a0001c0002t0010g0079	3	214	0.0140	-25	c.300 others(44): Show c.300-26601_300-26577delTATATATATATATATATATATATAT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12751051	AATAAGAT others(18): Show AATAAGATAAGATAAGATAAGATAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01106.hp2 others(19): Show HG00323.hp1 HG00423.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01975.hp1 HG01981.hp1 HG02109.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 NA18612.hp2 NA18906.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0035 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0070 a0001c0001t0076 a0001c0001t0090 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0113 a0001c0002t0010 a0001c0002t0053	a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0002g0088 others(19): Show a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0002g0088 a0001c0001t0003g0001 a0001c0001t0003g0129 a0001c0001t0006g0073 a0001c0001t0011g0009 a0001c0001t0020g0158 a0001c0001t0035g0145 a0001c0001t0042g0085 a0001c0001t0049g0101 a0001c0001t0050g0027 a0001c0001t0058g0093 a0001c0001t0070g0123 a0001c0001t0076g0128 a0001c0001t0090g0115 a0001c0001t0108g0020 a0001c0001t0109g0161 a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0010g0209 a0001c0002t0053g0002	22	214	0.1028	-25	c.300 others(42): Show c.300-9845_300-9821delTAAGATAAGATAAGATAAGATAAGA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12751103	TAAGATAA others(18): Show TAAGATAAGATAAGATAAGATAAGAA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0059 a0001c0001t0029g0059	1	214	0.0047	-25	c.300 others(42): Show c.300-9844_300-9820delAAGATAAGATAAGATAAGATAAGAA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1G_chr1_209578714_209618939	209588354	ATGGATTG others(18): Show ATGGATTGGATTGGATTGGATTGGAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01928.hp2 others(3): Show HG01123.hp1 HG01175.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0259 a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0259	6	446	0.0135	-25	c.-30 others(42): Show c.-30+4623_-30+4647delTGGATTGGATTGGATTGGATTGGAT		CAMK1G	ENSG00000008118.10	transcript	ENST00000361322.3	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMK2A_chr5_150214491_150294773	150284148	GCAGAGTG others(18): Show GCAGAGTGAGACCAGAGAGACAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	338	0.0030	-25	c.62+ others(40): Show c.62+5391_62+5415delTCTCTGTCTCTCTGGTCTCACTCTG		CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	1/18						chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469159	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02055.hp2 HG00558.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0060 a0001c0001t0007 a0001c0001t0060	a0001c0001t0007g0243 a0001c0001t0060g0239 a0001c0001t0007g0243 a0001c0001t0060g0239	2	246	0.0081	-25	c.626 others(42): Show c.626-4150_626-4126delAAAAAAAAAAAAATATATATATATA		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469161	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0107 a0001c0001t0095 a0001c0001t0107	a0001c0001t0095g0192 a0001c0001t0107g0207 a0001c0001t0095g0192 a0001c0001t0107g0207	2	246	0.0081	-25	c.626 others(42): Show c.626-4148_626-4124delAAAAAAAAAAATATATATATATATA		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMSAP2_chr1_200733893_200865704	200773887	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(73): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00609.hp1 HG01081.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02723.hp2 HG02896.hp1 HG03017.hp2 HG03453.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0008 a0001c0002t0002 a0001c0002t0011 others(5): Show a0001c0001t0008 a0001c0002t0002 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0004c0005t0014	a0001c0001t0008g0028 a0001c0002t0002g0030 a0001c0002t0002g0093 others(73): Show a0001c0001t0008g0028 a0001c0002t0002g0030 a0001c0002t0002g0093 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0011g0118 a0001c0002t0011g0120 a0001c0002t0013g0026 a0001c0002t0013g0027 a0001c0002t0018g0150 a0001c0002t0019g0153 a0001c0002t0020g0172 a0004c0005t0014g0023 a0004c0005t0014g0024	76	366	0.2077	-25	c.399 others(44): Show c.399+12833_399+12857delATAAAATAAAATAAAATAAAATAAA		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004647	GCTGGGGG others(18): Show GCTGGGGGGGAGTTATGGAGCAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19079.hp2 NA18981.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0025 a0001c0003t0002g0025	2	394	0.0051	-25	c.-14 others(44): Show c.-147+4992_-147+5016delTCCTTGCTCCATAACTCCCCCCCAG		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CAPN12_chr19_38725192_38749474	38734364	TCTGGGGG others(18): Show TCTGGGGGTGGAGGTATGGGCCCTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03490.hp2 HG03490.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0148 a0020c0022t0001g0148	1	342	0.0029	-25	c.174 others(34): Show c.1745_1769delCCAGGGCCCATACCTCCACCCCCAG	p.Ala others(5): Show p.Ala582fs	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	16/21	2078/3129	1745/2160	582/719			chr19	TogoVar

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Search Results (Total: 4527 hits)