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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARD14_chr17_80165030_80214331	80171205	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0004 a0001c0030t0004	a0001c0030t0004g0357 a0001c0030t0004g0357	1	376	0.0027	20	c.-69 others(39): Show c.-690+1152_-690+1153insCCCTCCCTCCCTCCCTTCCT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80171205	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	376	0.0027	20	c.-69 others(39): Show c.-690+1152_-690+1153insCCCTCCCTCCCTTCCTTCCT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD18_chr11_105132714_105144769	105133383	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02055.hp1 others(11): Show HG01433.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp1 HG02738.hp1 HG02922.hp2 HG03209.hp1 HG04115.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0003c0003t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0004 a0003c0003t0001g0012	14	432	0.0324	20	c.47 others(31): Show c.4716_*4717insATTTATTTATTTATTTATTT	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding		4330		chr11	TogoVar
CARD19_chr9_93091217_93118283	93118140	C C	CCTGCCAG others(13): Show CCTGCCAGGTTGCTCCTGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	358	0.0028	20	c.50 others(31): Show c.5033_*5034insCTGCCAGGTTGCTCCTGGCA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		4858		chr9	TogoVar
CARD8_chr19_48203086_48260912	48214769	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0157 a0001c0013t0003g0157	1	362	0.0028	20	c.134 others(37): Show c.1348+551_1348+570dupAAAAAAAAAAAAAAAAAAAA	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	13/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202935101	A A	AATATATA others(13): Show AATATATAATTATATATAATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(126): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0029 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0061 a0001c0001t0062 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0008t0015 a0001c0008t0022 a0001c0011t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 others(125): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0001t0003g0008 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0003g0201 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0231 a0001c0001t0004g0006 a0001c0001t0004g0029 a0001c0001t0004g0053 a0001c0001t0004g0151 a0001c0001t0004g0156 a0001c0001t0004g0172 a0001c0001t0004g0178 a0001c0001t0004g0180 a0001c0001t0004g0204 a0001c0001t0004g0221 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0238 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0006g0007 a0001c0001t0006g0060 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0006g0168 a0001c0001t0006g0196 a0001c0001t0006g0206 a0001c0001t0006g0230 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0244 a0001c0001t0007g0028 a0001c0001t0007g0061 a0001c0001t0007g0158 a0001c0001t0007g0165 a0001c0001t0007g0202 a0001c0001t0007g0208 a0001c0001t0007g0218 a0001c0001t0007g0237 a0001c0001t0007g0241 a0001c0001t0007g0288 a0001c0001t0009g0157 a0001c0001t0009g0169 a0001c0001t0009g0179 a0001c0001t0009g0182 a0001c0001t0009g0184 a0001c0001t0009g0191 a0001c0001t0009g0212 a0001c0001t0009g0215 a0001c0001t0009g0234 a0001c0001t0011g0027 a0001c0001t0011g0162 a0001c0001t0011g0203 a0001c0001t0011g0219 a0001c0001t0011g0224 a0001c0001t0011g0227 a0001c0001t0029g0217 a0001c0001t0029g0300 a0001c0001t0029g0301 a0001c0001t0030g0192 a0001c0001t0030g0194 a0001c0001t0030g0195 a0001c0001t0041g0185 a0001c0001t0041g0186 a0001c0001t0042g0298 a0001c0001t0042g0299 a0001c0001t0043g0023 a0001c0001t0043g0025 a0001c0001t0044g0207 a0001c0001t0044g0210 a0001c0001t0061g0223 a0001c0001t0062g0122 a0001c0001t0093g0148 a0001c0001t0094g0024 a0001c0001t0095g0225 a0001c0001t0096g0097 a0001c0001t0102g0174 a0001c0001t0104g0173 a0001c0001t0106g0096 a0001c0001t0108g0190 a0001c0001t0109g0093 a0001c0001t0110g0163 a0001c0001t0111g0193 a0001c0001t0112g0220 a0001c0001t0113g0188 a0001c0008t0015g0243 a0001c0008t0022g0242 a0001c0011t0004g0233	129	334	0.3862	20	c.-43 others(37): Show c.-43-6756_-43-6737dupATATAATTATATATAATTAT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp2 NA18945.hp2 others(1): Show HG00741.hp1 HG01255.hp2 NA18945.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0025 a0001c0001t0002 a0001c0001t0008 a0001c0001t0025	a0001c0001t0002g0112 a0001c0001t0002g0132 a0001c0001t0008g0076 others(1): Show a0001c0001t0002g0112 a0001c0001t0002g0132 a0001c0001t0008g0076 a0001c0001t0025g0091	4	334	0.0120	20	c.642 others(37): Show c.642+2503_642+2522dupGTGTGTGTGTGTGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18948.hp2 NA18986.hp1 others(1): Show HG03516.hp1 NA18948.hp2 NA18986.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0056	a0001c0001t0002g0138 a0001c0001t0003g0189 a0001c0001t0009g0157 others(1): Show a0001c0001t0002g0138 a0001c0001t0003g0189 a0001c0001t0009g0157 a0001c0001t0056g0260	4	334	0.0120	20	c.155 others(37): Show c.1559-912_1559-893dupTATATATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA18747.hp2 NA18965.hp2 others(3): Show HG00280.hp1 NA18747.hp2 NA18965.hp2 NA18981.hp1 NA18988.hp1 NA18998.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0002 a0005c0010t0002 a0001c0002t0002 a0005c0010t0002	a0001c0002t0002g0089 a0001c0002t0002g0117 a0001c0002t0002g0157 others(3): Show a0001c0002t0002g0089 a0001c0002t0002g0117 a0001c0002t0002g0157 a0001c0002t0002g0168 a0001c0002t0002g0271 a0005c0010t0002g0335	6	470	0.0128	20	c.31 others(31): Show c.3167_*3186dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857105	G G	GGCCAGAT others(13): Show GGCCAGATATAATGGGCACTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	470	0.0021	20	c.281 others(37): Show c.281+1225_281+1244dupGAGTGCCCATTATATCTGGC	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	470	0.0021	20	c.281 others(37): Show c.281+1067_281+1086dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0196 a0001c0001t0026g0196	1	470	0.0021	20	c.-7- others(35): Show c.-7-2674_-7-2655dupAAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0048 a0001c0004t0004g0048	1	186	0.0054	20	c.40+ others(35): Show c.40+1302_40+1303insGCGCGCACACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(13): Show GCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0035 a0002c0007t0006g0035	1	186	0.0054	20	c.40+ others(35): Show c.40+1302_40+1303insGCGCGCGCACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332762	C C	CACACACA others(13): Show CACACACACACACACACGCAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0017	1	186	0.0054	20	c.138 others(39): Show c.138+47863_138+47864insACACACGCATACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0018 a0001c0004t0012 a0001c0004t0018	a0001c0004t0012g0177 a0001c0004t0018g0093 a0001c0004t0012g0177 a0001c0004t0018g0093	2	186	0.0108	20	c.371 others(37): Show c.371+5734_371+5735insATATATATATATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(13): Show ATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03710.hp2 NA19007.hp2 HG02723.hp2 HG03710.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0008 a0002c0005 a0001c0006 a0001c0008 a0002c0005	a0001c0006t0002 a0001c0008t0001 a0002c0005t0005 a0001c0006t0002 a0001c0008t0001 a0002c0005t0005	a0001c0006t0002g0074 a0001c0008t0001g0066 a0002c0005t0005g0158 a0001c0006t0002g0074 a0001c0008t0001g0066 a0002c0005t0005g0158	3	186	0.0161	20	c.371 others(37): Show c.371+5734_371+5735insATATATATATATATGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0011 a0002c0005t0003g0011	1	186	0.0054	20	c.371 others(37): Show c.371+5734_371+5735insATATGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450912	T T	TTCTCTTC others(13): Show TTCTCTTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02630.hp2 others(2): Show HG01884.hp1 HG02257.hp2 HG02630.hp2 HG03195.hp1 NA19007.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0006 a0006c0016 a0001c0003 a0001c0006 a0006c0016	a0001c0003t0010 a0001c0006t0002 a0006c0016t0001 others(1): Show a0001c0003t0010 a0001c0006t0002 a0006c0016t0001 a0006c0016t0005	a0001c0003t0010g0155 a0001c0006t0002g0074 a0006c0016t0001g0030 others(2): Show a0001c0003t0010g0155 a0001c0006t0002g0074 a0006c0016t0001g0030 a0006c0016t0005g0165 a0006c0016t0005g0168	5	186	0.0269	20	c.614 others(35): Show c.614+205_614+206insTTCTCCTCTCCTCTCCTCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02818.hp1 others(1): Show HG00642.hp2 HG01081.hp1 HG02818.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0007 others(1): Show a0001c0002 a0001c0003 a0002c0007 a0002c0014	a0001c0002t0008 a0001c0003t0002 a0002c0007t0006 others(1): Show a0001c0002t0008 a0001c0003t0002 a0002c0007t0006 a0002c0014t0003	a0001c0002t0008g0013 a0001c0003t0002g0037 a0002c0007t0006g0033 others(1): Show a0001c0002t0008g0013 a0001c0003t0002g0037 a0002c0007t0006g0033 a0002c0014t0003g0086	4	186	0.0215	20	c.615 others(37): Show c.615-6623_615-6604dupCTTTCTTTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0013 a0001c0002t0008g0013	1	186	0.0054	20	c.206 others(37): Show c.2067+873_2067+892dupAAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25624211	G G	GAGCTATG others(13): Show GAGCTATGCAGTGTTTGCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(47): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18956.hp2 NA18993.hp2 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19063.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0015 a0001c0022 a0001c0037 a0003c0023 a0003c0024 a0003c0025 a0007c0021 a0009c0027 a0011c0036 a0012c0026	a0001c0001t0008 a0001c0001t0012 a0001c0002t0008 others(25): Show a0001c0001t0008 a0001c0001t0012 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0001c0004t0002 a0001c0004t0009 a0001c0004t0012 a0001c0004t0018 a0001c0006t0002 a0001c0006t0003 a0001c0009t0002 a0001c0009t0009 a0001c0009t0017 a0001c0015t0002 a0001c0015t0009 a0001c0022t0002 a0001c0037t0002 a0003c0023t0002 a0003c0024t0008 a0003c0025t0002 a0007c0021t0017 a0009c0027t0002 a0011c0036t0001 a0012c0026t0002	a0001c0001t0008g0101 a0001c0001t0008g0133 a0001c0001t0012g0179 others(47): Show a0001c0001t0008g0101 a0001c0001t0008g0133 a0001c0001t0012g0179 a0001c0002t0008g0013 a0001c0002t0008g0026 a0001c0002t0008g0090 a0001c0002t0011g0029 a0001c0002t0012g0174 a0001c0002t0012g0183 a0001c0003t0002g0002 a0001c0003t0002g0010 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0052 a0001c0003t0002g0057 a0001c0003t0002g0059 a0001c0003t0002g0082 a0001c0003t0002g0089 a0001c0003t0002g0114 a0001c0003t0008g0127 a0001c0003t0009g0134 a0001c0003t0009g0137 a0001c0003t0009g0138 a0001c0004t0002g0015 a0001c0004t0002g0043 a0001c0004t0002g0088 a0001c0004t0009g0182 a0001c0004t0012g0177 a0001c0004t0018g0093 a0001c0006t0002g0074 a0001c0006t0002g0099 a0001c0006t0002g0106 a0001c0006t0002g0110 a0001c0006t0002g0117 a0001c0006t0002g0131 a0001c0006t0003g0049 a0001c0009t0002g0025 a0001c0009t0009g0046 a0001c0009t0017g0166 a0001c0015t0002g0032 a0001c0015t0009g0145 a0001c0022t0002g0108 a0001c0037t0002g0083 a0003c0023t0002g0072 a0003c0024t0008g0019 a0003c0025t0002g0063 a0007c0021t0017g0167 a0009c0027t0002g0042 a0011c0036t0001g0001 a0012c0026t0002g0070	50	186	0.2688	20	c.46 others(31): Show c.4628_*4629insAGCTATGCAGTGTTTGCATC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding		3682		chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(13): Show CCACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0009 a0001c0004t0035g0009	1	346	0.0029	20	c.27 others(29): Show c.272_*291dupACACACACACACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	321	0.0031	20	c.802 others(37): Show c.802-2554_802-2553insGGGAGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110679599	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp1 HG02622.hp1 HG02976.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0004 a0004c0012t0002 a0004c0012t0004	a0004c0012t0002g0263 a0004c0012t0004g0262 a0004c0012t0002g0263 a0004c0012t0004g0262	2	372	0.0054	20	c.656 others(37): Show c.656-2497_656-2496insTTCTTTCTTTCTTTCTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40172967	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	266	0.0038	20	c.25 others(31): Show c.2562_*2563insTTTTTTTTTTTTTTTTTTTT	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		797		chr17	TogoVar
CASKIN1_chr16_2172180_2201605	2178786	A A	ACGCCCAT others(13): Show ACGCCCATCTCTGCCGAGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG01109.hp2 others(6): Show HG00408.hp2 HG01074.hp1 HG01109.hp2 HG02027.hp2 HG02647.hp2 HG02922.hp2 HG03209.hp2 NA19005.hp2 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0012 a0001c0001 a0001c0004 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0004t0023 a0007c0012t0001	a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0135 a0001c0001t0002g0044 a0001c0001t0020g0108 a0001c0004t0023g0146 a0007c0012t0001g0013	9	350	0.0257	20	c.419 others(36): Show c.4199+96_4199+115dupGGGCTCGGCAGAGATGGGCG	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/19			chr16	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0160 a0001c0007t0027g0160	1	164	0.0061	20	c.115 others(39): Show c.1156-8562_1156-8543dupGTGTGTGTGTGTGTGTGTGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	164	0.0061	20	c.172 others(39): Show c.172+23399_172+23418dupATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0037 a0001c0001t0006g0038	2	164	0.0122	20	c.60- others(37): Show c.60-16605_60-16586dupTTTTTTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143284623	C C	CAAGGTAA others(13): Show CAAGGTAAATTACCCAAATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01261.hp1 HG02071.hp1 others(17): Show HG01169.hp2 HG01261.hp1 HG02071.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074	20	246	0.0813	20	c.-38 others(31): Show c.-3833_-3832insAAGGTAAATTACCCAAATAG	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding		3727		chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18949.hp1 HG03669.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0226 a0001c0001t0002g0177 a0001c0001t0002g0226	2	366	0.0055	20	c.483 others(35): Show c.483+203_483+222dupTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP5_chr11_104989243_105028168	105009728	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0134 a0004c0004t0001g0134	1	396	0.0025	20	c.8-7 others(31): Show c.8-749_8-748insGTGTATATATATATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(13): Show TTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18972.hp2 HG01928.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0167 a0001c0001t0003g0177 a0001c0001t0002g0167 a0001c0001t0003g0177	2	416	0.0048	20	c.-27 others(31): Show c.-2737_-2736insTATATATATATATATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TATATATA others(13): Show TATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0138 a0002c0003t0003g0138	1	416	0.0024	20	c.-27 others(31): Show c.-2774_-2773insGTATATATATATATATATAT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01496.hp1 others(8): Show HG00558.hp1 HG01123.hp2 HG01496.hp1 HG02165.hp1 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03710.hp2 NA18964.hp2 NA18991.hp2 NA18998.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0013 a0003c0003t0002	a0001c0001t0003g0190 a0001c0001t0004g0079 a0001c0001t0004g0080 others(8): Show a0001c0001t0003g0190 a0001c0001t0004g0079 a0001c0001t0004g0080 a0002c0002t0001g0277 a0002c0002t0001g0334 a0002c0002t0013g0276 a0003c0003t0002g0110 a0003c0003t0002g0112 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0138	11	406	0.0271	20	c.-1+ others(35): Show c.-1+7839_-1+7858dupTTTCTTTCTTTCTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113732942	G G	GGCCAGGT others(13): Show GGCCAGGTAAGAGGCTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	406	0.0025	20	c.34 others(31): Show c.3402_*3403insGCCAGGTAAGAGGCTGTGTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		2038		chr10	TogoVar
CASP8_chr2_201255536_201292709	201283721	G G	GCTGGCTG others(13): Show GCTGGCTGGGCAGAGGGGCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(5): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG02683.hp2 HG03654.hp1 HG03669.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0149 others(3): Show a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0149 a0001c0001t0008g0159 a0001c0001t0008g0167 a0001c0001t0008g0170	8	386	0.0207	20	c.803 others(37): Show c.803-1090_803-1089insTGGGCAGAGGGGCTCCTGGC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201283994	C C	CCAGACAG others(13): Show CCAGACAGGGTTGCGGCCCAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	386	0.0026	20	c.803 others(35): Show c.803-817_803-798dupCAGGGTTGCGGCCCAGCAGA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01123.hp1 others(21): Show HG00423.hp2 HG00438.hp1 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG02040.hp2 HG02109.hp1 HG02135.hp2 HG03041.hp1 HG03130.hp1 HG03540.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18952.hp2 NA18988.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19078.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0002c0003t0006 a0002c0004t0002 a0002c0004t0016 a0003c0005t0001	a0001c0001t0002g0060 a0001c0001t0002g0089 a0001c0001t0005g0162 others(21): Show a0001c0001t0002g0060 a0001c0001t0002g0089 a0001c0001t0005g0162 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0006g0040 a0002c0003t0001g0265 a0002c0003t0001g0281 a0002c0003t0001g0285 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0304 a0002c0003t0001g0323 a0002c0003t0001g0333 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0006g0359 a0002c0004t0002g0259 a0002c0004t0016g0005 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254	24	364	0.0659	20	c.783 others(37): Show c.783+2183_783+2202dupGATAGATAGATAGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115739124	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00639.hp2 others(40): Show HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01496.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03540.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18940.hp2 NA18949.hp2 NA18989.hp2 NA19000.hp1 NA19005.hp2 NA19078.hp2 NA19086.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0006t0003 a0001c0007t0009 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0003c0005t0001	a0001c0001t0002g0174 a0001c0001t0005g0141 a0001c0001t0005g0143 others(40): Show a0001c0001t0002g0174 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0151 a0001c0001t0005g0165 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0003g0036 a0001c0002t0003g0047 a0001c0002t0003g0158 a0001c0002t0003g0164 a0001c0002t0003g0172 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0194 a0001c0002t0003g0198 a0001c0002t0003g0204 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0225 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0006t0003g0182 a0001c0007t0009g0179 a0001c0007t0009g0180 a0002c0003t0001g0267 a0002c0003t0001g0270 a0002c0003t0001g0286 a0002c0003t0003g0256 a0002c0003t0006g0359 a0002c0004t0002g0278 a0002c0004t0002g0352 a0003c0005t0001g0239 a0003c0005t0001g0251 a0003c0005t0001g0252	43	364	0.1181	20	c.421 others(35): Show c.421-790_421-789insAAAAAAAAAAAAAAAAAAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252362	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0084 a0001c0007t0001g0084	1	314	0.0032	20	c.-24 others(39): Show c.-242-1558_-242-1539dupGGAAGGAAGGAAGGAAGGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(13): Show GTAGGAAGGAAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	314	0.0032	20	c.-24 others(39): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19086.hp1 HG00140.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0059 a0001c0001t0006g0043 a0001c0001t0001g0059 a0001c0001t0006g0043	2	314	0.0064	20	c.-24 others(39): Show c.-242-1519_-242-1500dupGAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(13): Show AGGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19004.hp2 NA19060.hp2 others(1): Show HG01346.hp2 NA19004.hp2 NA19060.hp2 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0006 a0002c0002t0002 a0005c0006t0006 a0001c0001t0006 a0002c0002t0002 a0005c0006t0006	a0001c0001t0006g0052 a0002c0002t0002g0204 a0002c0002t0002g0223 others(1): Show a0001c0001t0006g0052 a0002c0002t0002g0204 a0002c0002t0002g0223 a0005c0006t0006g0044	4	314	0.0127	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp2 HG03225.hp1 others(1): Show HG00423.hp2 HG01891.hp2 HG03225.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0012 a0001c0001t0001 a0001c0001t0007 a0002c0002t0012	a0001c0001t0001g0279 a0001c0001t0007g0257 a0001c0001t0007g0258 others(1): Show a0001c0001t0001g0279 a0001c0001t0007g0257 a0001c0001t0007g0258 a0002c0002t0012g0212	4	314	0.0127	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18943.hp1 NA18947.hp2 HG02129.hp2 NA18943.hp1 NA18947.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0008 a0004c0003 a0001c0007 a0002c0008 a0004c0003	a0001c0007t0006 a0002c0008t0002 a0004c0003t0004 a0001c0007t0006 a0002c0008t0002 a0004c0003t0004	a0001c0007t0006g0047 a0002c0008t0002g0268 a0004c0003t0004g0198 a0001c0007t0006g0047 a0002c0008t0002g0268 a0004c0003t0004g0198	3	314	0.0096	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAAAAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	314	0.0032	20	c.-24 others(39): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 NA18995.hp2 others(1): Show HG02145.hp2 HG02976.hp1 NA18995.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0033 a0002c0004t0001g0089 a0002c0004t0001g0101 others(1): Show a0002c0003t0001g0033 a0002c0004t0001g0089 a0002c0004t0001g0101 a0002c0004t0001g0103	4	376	0.0106	20	c.460 others(37): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74960712	A A	ATATATAT others(13): Show ATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	228	0.0044	20	c.-42 others(31): Show c.-4274_-4273insTATATATATATATATATATT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		3992		chr7	TogoVar

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