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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CABIN1_chr22_24006304_24183628	24011119	ACACGCAC others(27): Show ACACGCACACGCACACGCGCACGCGCGCACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0253 a0003c0005t0001g0253	1	268	0.0037	-34	c.-32 others(43): Show c.-322_-289delCACGCACACGCACACGCGCACGCGCGCACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		184		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011121	ACGCACAC others(27): Show ACGCACACGCACACGCGCACGCGCGCACACACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0220 a0012c0029t0001g0220	1	268	0.0037	-34	c.-32 others(43): Show c.-320_-287delCGCACACGCACACGCGCACGCGCGCACACACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		182		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011139	ACGCGCGC others(27): Show ACGCGCGCACACACGCGCACACACGCGCGCACGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01175.hp2 HG01496.hp1 others(20): Show HG00597.hp1 HG01175.hp2 HG01496.hp1 HG01993.hp1 HG02129.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18939.hp2 NA18947.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18995.hp1 NA19007.hp2 NA19070.hp2 NA19077.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 others(2): Show a0001c0001 a0001c0003 a0001c0014 a0001c0036 a0001c0037	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0036t0001 a0001c0037t0001	a0001c0001t0001g0075 a0001c0003t0001g0020 a0001c0003t0001g0124 others(20): Show a0001c0001t0001g0075 a0001c0003t0001g0020 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0260 a0001c0014t0001g0137 a0001c0014t0001g0138 a0001c0014t0001g0143 a0001c0036t0001g0128 a0001c0037t0001g0151	23	268	0.0858	-34	c.-30 others(43): Show c.-302_-269delCGCGCGCACACACGCGCACACACGCGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		164		chr22	TogoVar
CACNA1A_chr19_13201442_13511479	13346638	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0005 a0002c0085t0005	a0002c0085t0005g0085 a0002c0085t0005g0085	1	218	0.0046	-34	c.979 others(53): Show c.979-10763_979-10730delAAAAAATATATATATATATATATATA TATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1153321	CGGGCCGG others(27): Show CGGGCCGGGGGCGGAGGCGCTGGGGGCCGGGGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp1 others(32): Show HG00099.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01943.hp1 HG01981.hp2 HG02071.hp1 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02615.hp2 HG02965.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp2 NA18906.hp1 NA18951.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0013 a0016 a0017 a0019 a0025 a0038 a0045 a0064 a0069 a0080	a0001c0001 a0001c0032 a0002c0008 others(21): Show a0001c0001 a0001c0032 a0002c0008 a0002c0010 a0002c0011 a0002c0014 a0002c0078 a0003c0015 a0003c0132 a0005c0003 a0006c0004 a0007c0005 a0008c0009 a0009c0016 a0013c0030 a0016c0026 a0017c0064 a0019c0033 a0025c0047 a0038c0101 a0045c0089 a0064c0111 a0069c0121 a0080c0045	a0001c0001t0005 a0001c0032t0021 a0002c0008t0005 others(21): Show a0001c0001t0005 a0001c0032t0021 a0002c0008t0005 a0002c0010t0005 a0002c0011t0005 a0002c0014t0008 a0002c0078t0005 a0003c0015t0017 a0003c0132t0030 a0005c0003t0005 a0006c0004t0017 a0007c0005t0008 a0008c0009t0008 a0009c0016t0013 a0013c0030t0013 a0016c0026t0008 a0017c0064t0032 a0019c0033t0005 a0025c0047t0005 a0038c0101t0008 a0045c0089t0005 a0064c0111t0031 a0069c0121t0005 a0080c0045t0005	a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0268 others(32): Show a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0275 a0001c0032t0021g0265 a0001c0032t0021g0266 a0002c0008t0005g0252 a0002c0010t0005g0270 a0002c0011t0005g0273 a0002c0014t0008g0267 a0002c0078t0005g0250 a0003c0015t0017g0271 a0003c0132t0030g0278 a0005c0003t0005g0255 a0006c0004t0017g0263 a0007c0005t0008g0257 a0007c0005t0008g0258 a0007c0005t0008g0259 a0007c0005t0008g0272 a0007c0005t0008g0277 a0008c0009t0008g0253 a0009c0016t0013g0245 a0009c0016t0013g0246 a0013c0030t0013g0251 a0016c0026t0008g0279 a0017c0064t0032g0276 a0019c0033t0005g0254 a0019c0033t0005g0260 a0025c0047t0005g0247 a0038c0101t0008g0261 a0045c0089t0005g0262 a0064c0111t0031g0256 a0069c0121t0005g0264 a0080c0045t0005g0274	35	338	0.1036	-34	c.-12 others(42): Show c.-125_-92delGGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	1/35	341	INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1158848	GCCCCGCT others(27): Show GCCCCGCTCAGCCCGCACCCCTGGCCCCGCAGGGC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp2 HG02451.hp1 others(1): Show HG01981.hp1 HG01981.hp2 HG02451.hp1 NA20129.hp2	a0001 a0016 a0017 others(1): Show a0001 a0016 a0017 a0026	a0001c0001 a0016c0026 a0017c0066 others(1): Show a0001c0001 a0016c0026 a0017c0066 a0026c0128	a0001c0001t0010 a0016c0026t0008 a0017c0066t0025 others(1): Show a0001c0001t0010 a0016c0026t0008 a0017c0066t0025 a0026c0128t0040	a0001c0001t0010g0013 a0016c0026t0008g0279 a0017c0066t0025g0232 others(1): Show a0001c0001t0010g0013 a0016c0026t0008g0279 a0017c0066t0025g0232 a0026c0128t0040g0014	4	338	0.0118	-34	c.299 others(51): Show c.299+4844_299+4877delGGCCCCCGCTCAGCCCGCACCCCTGGCC CCGCAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1S_chr1_201034512_201117426	201095158	ATATATAT others(27): Show ATATATATATATACACACATACATATGTACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0017 a0017	a0017c0093 a0017c0093	a0017c0093t0001 a0017c0093t0001	a0017c0093t0001g0246 a0017c0093t0001g0246	1	314	0.0032	-34	c.259 others(51): Show c.259-1171_259-1138delCACACGTACATATGTATGTGTGTATATA TATATA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	2/43			chr1	TogoVar
CACNB2_chr10_18135424_18548557	18358519	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG03195.hp1 others(6): Show HG02615.hp2 HG02630.hp1 HG03195.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0006g0017 others(6): Show a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0006g0017 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0016g0006 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0184	9	200	0.0450	-34	c.214 others(53): Show c.214-43386_214-43353delCTCTCTCTCTCTCTCGCTCTCTCTCT CTCTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358519	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG03195.hp2 others(6): Show HG02615.hp1 HG02630.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0091 a0001c0001t0001g0226 a0001c0001t0003g0001 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0226 a0001c0001t0003g0001 a0001c0001t0005g0090 a0001c0001t0016g0224 a0001c0002t0002g0220 a0001c0002t0002g0225 a0001c0002t0002g0246	9	302	0.0298	-34	c.51+ others(51): Show c.51+17561_51+17594delCTCTCTCTCTCTCTCGCTCTCTCTCTCT CTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24297234	CAGAATCC others(27): Show CAGAATCCCATCTCTAAAAATAAAATAAAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00735.hp1 others(41): Show HG00544.hp2 HG00558.hp2 HG00735.hp1 HG01361.hp2 HG01891.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18965.hp1 NA18981.hp1 NA18986.hp2 NA18992.hp1 NA18997.hp2 NA19000.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0001g0152 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0339 a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0002g0045 a0001c0001t0002g0097 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0298 a0001c0003t0001g0237	44	366	0.1202	-34	c.211 others(53): Show c.211+40270_211+40303delAGAATCCCATCTCTAAAAATAAAATA AAATAAAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3			chr16	TogoVar
CADM2_chr3_84953989_86079429	85321114	ATATTTTT others(27): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02895.hp1 HG02257.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0002t0051 a0001c0003t0006 a0001c0001t0007 a0001c0002t0051 a0001c0003t0006	a0001c0001t0007g0059 a0001c0002t0051g0005 a0001c0003t0006g0028 a0001c0001t0007g0059 a0001c0002t0051g0005 a0001c0003t0006g0028	3	146	0.0206	-34	c.61+ others(53): Show c.61+361448_61+361481delATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0078 a0001c0001t0002g0102	2	146	0.0137	-34	c.61+ others(53): Show c.61+361465_61+361498delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122708520	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01243.hp2 others(3): Show HG00280.hp2 HG01069.hp1 HG01243.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0004 a0002c0006t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0002c0006t0001 a0002c0006t0002	a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 others(3): Show a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0004g0067 a0002c0006t0001g0059 a0002c0006t0002g0055	6	126	0.0476	-34	c.453 others(53): Show c.453+28401_453+28434delATATATATATATATATATATATATAT ATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0022 a0004c0006t0022	a0004c0006t0022g0204 a0004c0006t0022g0204	1	344	0.0029	-34	c.50 others(45): Show c.5054_*5087delATATATATATATATATATATATATATATATATAT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding		867		chr2	TogoVar
CALN1_chr7_71774491_72417338	71798083	GAGAGACA others(27): Show GAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02818.hp1 HG02257.hp2 HG02486.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0049 a0001c0001t0054 a0001c0001t0008 a0001c0001t0049 a0001c0001t0054	a0001c0001t0008g0067 a0001c0001t0049g0130 a0001c0001t0054g0136 a0001c0001t0008g0067 a0001c0001t0049g0130 a0001c0001t0054g0136	3	142	0.0211	-34	c.659 others(53): Show c.659-10215_659-10182delGTCTCTGTCTCTCTCTGTCTCTCTCT CTGTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71798101	CAGAGAGA others(27): Show CAGAGAGAGACAGAGACAGAGACAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	142	0.0070	-34	c.659 others(53): Show c.659-10233_659-10200delCTCTCTCTCTCTGTCTCTGTCTCTGT CTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691370	TATATATA others(27): Show TATATATAAATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0027 a0001c0001t0050g0027	1	214	0.0047	-34	c.299 others(53): Show c.299+24568_299+24601delAATATATATATATATATATATATATA AATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694365	TATATATA others(27): Show TATATATAAAATATAAAATATATATGTTATATATC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	214	0.0047	-34	c.299 others(53): Show c.299+27603_299+27636delAAAATATATATGTTATATATCATATA TAAAATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227347	GGTGTGGA others(27): Show GGTGTGGAAGACAGGAGGTGTGGGGGACAGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0124 a0001c0001t0005g0124	1	242	0.0041	-34	c.146 others(51): Show c.1469-737_1469-704delTCCGTCTGTCCCCCACACCTCCTGTCTT CCACAC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200816957	CACGCGTG others(27): Show CACGCGTGTGTATGTGTATATATCTACACATATAT	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	366	0.0027	-34	c.645 others(51): Show c.645+1316_645+1349delGCGTGTGTATGTGTATATATCTACACAT ATATAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751575	AAGAAAGA others(27): Show AAGAAAGAAACAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01109.hp2 others(11): Show HG01070.hp2 HG01081.hp1 HG01109.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG03490.hp2 HG04204.hp1 NA18951.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA19070.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0003c0004 a0004c0007 others(1): Show a0001c0002 a0003c0004 a0004c0007 a0008c0011	a0001c0002t0001 a0003c0004t0001 a0004c0007t0002 others(1): Show a0001c0002t0001 a0003c0004t0001 a0004c0007t0002 a0008c0011t0001	a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 others(11): Show a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0327 a0003c0004t0001g0314 a0004c0007t0002g0312 a0008c0011t0001g0313 a0008c0011t0001g0315	14	394	0.0355	-34	c.214 others(51): Show c.214-3752_214-3719delCAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(27): Show CAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02622.hp2 HG02922.hp2 others(9): Show HG02004.hp1 HG02622.hp2 HG02922.hp2 HG03195.hp2 HG03669.hp2 NA18952.hp2 NA18981.hp2 NA18988.hp1 NA18999.hp1 NA19010.hp1 NA19063.hp2 NA19077.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0001c0005 a0002c0006 others(1): Show a0001c0003 a0001c0005 a0002c0006 a0006c0010	a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 others(1): Show a0001c0003t0001 a0001c0005t0001 a0002c0006t0001 a0006c0010t0001	a0001c0003t0001g0380 a0001c0003t0001g0381 a0001c0003t0001g0382 others(9): Show a0001c0003t0001g0380 a0001c0003t0001g0381 a0001c0003t0001g0382 a0001c0003t0001g0383 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0002c0006t0001g0272 a0002c0006t0001g0273 a0006c0010t0001g0248	12	394	0.0305	-34	c.214 others(51): Show c.214-3726_214-3693delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75274085	ACCATTTC others(27): Show ACCATTTCAGTATTTTATATTAAAATACTGTCATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03195.hp2 others(3): Show HG02647.hp1 HG02896.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0021 a0002c0002t0008 a0001c0001t0008 a0001c0001t0021 a0002c0002t0008	a0001c0001t0008g0028 a0001c0001t0008g0313 a0001c0001t0008g0315 others(2): Show a0001c0001t0008g0028 a0001c0001t0008g0313 a0001c0001t0008g0315 a0001c0001t0021g0226 a0002c0002t0008g0166	6	370	0.0162	-34	c.47 others(45): Show c.4771_*4804delAATGACAGTATTTTAATATAAAATACTGAAATGG	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding		1893		chr12	TogoVar
CAPS2_chr12_75270979_75335324	75291567	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	370	0.0027	-34	c.112 others(51): Show c.1126+143_1126+176delTATATATATATATATATATATATATATA TATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116890565	TATACACA others(27): Show TATACACATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0127 a0001c0001t0038g0127	1	354	0.0028	-34	c.103 others(51): Show c.103+2377_104-2394delTACACATATATATATATATATATATATA TATACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890577	TATATATA others(27): Show TATATATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0172 a0001c0001t0010g0172	1	354	0.0028	-34	c.103 others(51): Show c.103+2389_104-2382delTATATATATATATATATATACACACACA CACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116901023	GAGGTTAC others(27): Show GAGGTTACGGAGCAAAAGGAATGCTTATACACTGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0270 a0001c0001t0007g0270	1	354	0.0028	-34	c.219 others(51): Show c.219+2189_219+2222delAGGTTACGGAGCAAAAGGAATGCTTATA CACTGT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	4/9			chr7	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02055.hp1 others(3): Show HG01243.hp1 HG01255.hp1 HG02055.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0001 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0014g0052 a0001c0001t0015g0150	6	164	0.0366	-34	c.172 others(53): Show c.172+23385_172+23418delATATATATATATATATATATATATAT ATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP5_chr11_104989243_105028168	105009732	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0230 a0009c0009t0001g0230	1	396	0.0025	-34	c.8-7 others(45): Show c.8-786_8-753delGTGTGTGTATATATATATATATATATATATATAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105010480	CATTATAC others(27): Show CATTATACTGATATAATAAATCAGTAATTATCATT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01175.hp2 others(26): Show HG01070.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03831.hp1 NA18522.hp1 NA21309.hp1 NA21309.hp2	a0005 a0006 a0008 others(3): Show a0005 a0006 a0008 a0009 a0022 a0023	a0005c0006 a0006c0008 a0006c0018 others(4): Show a0005c0006 a0006c0008 a0006c0018 a0008c0007 a0009c0009 a0022c0019 a0023c0020	a0005c0006t0001 a0006c0008t0001 a0006c0018t0001 others(4): Show a0005c0006t0001 a0006c0008t0001 a0006c0018t0001 a0008c0007t0001 a0009c0009t0001 a0022c0019t0001 a0023c0020t0001	a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 others(21): Show a0005c0006t0001g0029 a0005c0006t0001g0041 a0005c0006t0001g0311 a0005c0006t0001g0312 a0005c0006t0001g0313 a0005c0006t0001g0316 a0006c0008t0001g0044 a0006c0008t0001g0227 a0006c0008t0001g0322 a0006c0008t0001g0323 a0006c0008t0001g0324 a0006c0018t0001g0319 a0008c0007t0001g0043 a0008c0007t0001g0317 a0008c0007t0001g0320 a0008c0007t0001g0321 a0008c0007t0001g0325 a0009c0009t0001g0042 a0009c0009t0001g0081 a0009c0009t0001g0228 a0009c0009t0001g0229 a0009c0009t0001g0230 a0022c0019t0001g0326 a0023c0020t0001g0318	29	396	0.0732	-34	c.8-1 others(47): Show c.8-1534_8-1501delAATGATAATTACTGATTTATTATATCAGTATA AT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP7_chr10_113674912_113735905	113687344	GTGTATGT others(27): Show GTGTATGTACATGTATACATGTACGTACATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(302): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0008 others(7): Show a0001c0001 a0001c0005 a0001c0008 a0001c0011 a0001c0012 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0005c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0005t0002 a0001c0008t0002 a0001c0011t0017 a0001c0012t0002 a0002c0002t0001 a0002c0002t0012 a0002c0002t0013 a0002c0006t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0019 a0004c0004t0001 a0005c0009t0003	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0103 others(289): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0181 a0001c0001t0002g0193 a0001c0001t0002g0222 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0269 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0335 a0001c0001t0002g0362 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0003g0009 a0001c0001t0003g0149 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0324 a0001c0001t0003g0346 a0001c0001t0003g0348 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0004g0102 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0228 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0338 a0001c0001t0004g0347 a0001c0001t0004g0374 a0001c0001t0005g0108 a0001c0001t0005g0150 a0001c0001t0005g0180 a0001c0001t0005g0266 a0001c0001t0005g0315 a0001c0001t0005g0339 a0001c0001t0005g0382 a0001c0001t0005g0384 a0001c0001t0007g0011 a0001c0001t0007g0221 a0001c0001t0007g0223 a0001c0001t0007g0224 a0001c0001t0007g0227 a0001c0001t0009g0378 a0001c0001t0009g0387 a0001c0001t0010g0215 a0001c0001t0010g0235 a0001c0001t0014g0151 a0001c0001t0015g0010 a0001c0001t0018g0179 a0001c0005t0002g0264 a0001c0008t0002g0253 a0001c0011t0017g0386 a0001c0012t0002g0107 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0168 a0002c0002t0001g0211 a0002c0002t0001g0248 a0002c0002t0001g0254 a0002c0002t0001g0265 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0310 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0325 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0375 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0383 a0002c0002t0001g0385 a0002c0002t0012g0358 a0002c0002t0013g0276 a0002c0006t0001g0104 a0002c0006t0001g0105 a0003c0003t0002g0007 a0003c0003t0002g0110 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0125 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0147 a0003c0003t0002g0148 a0003c0003t0005g0115 a0003c0003t0005g0124 a0003c0003t0005g0126 a0003c0003t0005g0133 a0003c0003t0005g0134 a0003c0003t0019g0144 a0004c0004t0001g0109 a0004c0004t0001g0129 a0004c0004t0001g0130 a0005c0009t0003g0204	305	406	0.7512	-34	c.-1+ others(49): Show c.-1+7405_-1+7438delTGTACATGTATACATGTACGTACATATATA TGTA	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CATSPERD_chr19_5715637_5783734	5741042	GCCATTGC others(27): Show GCCATTGCACTGCAGTCTGGATGACAGAGTGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00642.hp1 others(103): Show HG00323.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp2 NA18946.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18999.hp2 NA19043.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0013 a0018 a0019 a0020 a0021 a0022 a0023 a0026 a0031 a0033 a0034	a0001c0001 a0001c0040 a0002c0002 others(20): Show a0001c0001 a0001c0040 a0002c0002 a0002c0019 a0003c0004 a0003c0041 a0004c0003 a0004c0042 a0006c0007 a0007c0010 a0008c0009 a0010c0011 a0013c0031 a0018c0020 a0019c0022 a0020c0021 a0021c0023 a0022c0025 a0023c0026 a0026c0033 a0031c0028 a0033c0047 a0034c0046	a0001c0001t0001 a0001c0001t0002 a0001c0040t0001 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0040t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0003c0004t0001 a0003c0004t0003 a0003c0041t0001 a0004c0003t0001 a0004c0003t0003 a0004c0042t0001 a0006c0007t0001 a0006c0007t0002 a0007c0010t0001 a0008c0009t0001 a0010c0011t0001 a0013c0031t0001 a0018c0020t0001 a0019c0022t0001 a0020c0021t0001 a0021c0023t0001 a0022c0025t0001 a0023c0026t0002 a0026c0033t0001 a0031c0028t0001 a0033c0047t0001 a0034c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0038 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0229 a0001c0001t0001g0304 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0147 a0001c0040t0001g0331 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0127 a0002c0002t0001g0182 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0081 a0002c0002t0003g0138 a0002c0019t0001g0330 a0002c0019t0001g0332 a0003c0004t0001g0040 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0001g0076 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0098 a0003c0004t0001g0129 a0003c0004t0001g0303 a0003c0004t0001g0336 a0003c0004t0003g0083 a0003c0041t0001g0329 a0004c0003t0001g0079 a0004c0003t0001g0080 a0004c0003t0001g0087 a0004c0003t0001g0132 a0004c0003t0001g0302 a0004c0003t0001g0319 a0004c0003t0003g0047 a0004c0003t0003g0053 a0004c0003t0003g0071 a0004c0003t0003g0075 a0004c0003t0003g0131 a0004c0042t0001g0316 a0006c0007t0001g0017 a0006c0007t0001g0025 a0006c0007t0001g0034 a0006c0007t0002g0030 a0006c0007t0002g0031 a0007c0010t0001g0026 a0007c0010t0001g0027 a0007c0010t0001g0029 a0008c0009t0001g0008 a0008c0009t0001g0016 a0008c0009t0001g0032 a0010c0011t0001g0002 a0010c0011t0001g0003 a0013c0031t0001g0036 a0018c0020t0001g0018 a0019c0022t0001g0028 a0020c0021t0001g0019 a0021c0023t0001g0052 a0022c0025t0001g0146 a0023c0026t0002g0335 a0026c0033t0001g0301 a0031c0028t0001g0130 a0033c0047t0001g0004 a0034c0046t0001g0005	106	336	0.3155	-34	c.573 others(51): Show c.573+1606_573+1639delATTGCACTGCAGTCTGGATGACAGAGTG AGACCC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02257.hp2 others(8): Show HG01891.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0021 a0004c0023 a0001c0003 a0002c0021 a0004c0023	a0001c0003t0001 a0001c0003t0002 a0002c0021t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0002c0021t0001 a0004c0023t0001	a0001c0003t0001g0031 a0001c0003t0001g0045 a0001c0003t0001g0087 others(8): Show a0001c0003t0001g0031 a0001c0003t0001g0045 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0002g0083 a0002c0021t0001g0065 a0004c0023t0001g0077	11	206	0.0534	-34	c.103 others(53): Show c.1030-3118_1030-3085delTATATATATATATATATATATATATA TATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0082 a0002c0004t0001g0082	1	206	0.0049	-34	c.201 others(51): Show c.2010-920_2010-887delTATATATATATATATATATATATATATA TATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116555506	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0084 a0001c0001t0005g0006 a0001c0001t0004g0084 a0001c0001t0005g0006	3	342	0.0088	-34	c.196 others(51): Show c.196-3436_196-3403delAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555516	GAAAGAGA others(27): Show GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	342	0.0029	-34	c.196 others(51): Show c.196-3428_196-3395delAAGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33641267	GCACCTAG others(27): Show GCACCTAGGCTTTTTACAAATAGGATAGCTGGTTT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0102 a0001c0001t0017g0102	1	298	0.0034	-34	c.148 others(51): Show c.1488+737_1488+770delCACCTAGGCTTTTTACAAATAGGATAGC TGGTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10			chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01167.hp1 others(13): Show HG00438.hp1 HG00738.hp2 HG01167.hp1 HG01169.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG06807.hp1 NA18960.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 others(13): Show a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0050 a0001c0001t0004g0061 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0005g0084	16	298	0.0537	-34	c.148 others(51): Show c.1489-563_1489-530delTATATATATATATATATATATATATATA TATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBX5_chr12_54225942_54285122	54235669	TAGATGCT others(27): Show TAGATGCTCAGGTATTAACAGATGTGCTCCAAGAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0221 a0001c0001t0068g0221	1	368	0.0027	-34	c.60 others(45): Show c.6052_*6085delGTCTTGGAGCACATCTGTTAATACCTGAGCATCT	CBX5	ENSG00000094916.16	transcript	ENST00000209875.9	protein_coding	5/5	6052		chr12	TogoVar
CC2D2A_chr4_15464882_15606552	15470675	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02293.hp1 NA19062.hp2 HG01952.hp1 HG02293.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0001g0049 a0001c0001t0002g0047 a0001c0001t0002g0048	3	344	0.0087	-34	c.-19 others(49): Show c.-19+620_-19+653delCTCTCTCTCTCTCTATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470677	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp2 HG01169.hp1 others(5): Show HG00733.hp1 HG01099.hp2 HG01169.hp1 HG01192.hp1 NA18612.hp2 NA18987.hp1 NA19068.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0002 a0001c0001t0001 a0001c0001t0002 a0005c0009t0002	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0059 a0001c0001t0002g0060 a0005c0009t0002g0066	8	344	0.0233	-34	c.-19 others(49): Show c.-19+622_-19+655delCTCTCTCTCTCTATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470679	CTCTCTCT others(27): Show CTCTCTCTCTCTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp2 others(13): Show HG00099.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp2 HG02027.hp1 HG02056.hp2 HG02109.hp1 HG02148.hp2 HG02293.hp2 NA18747.hp1 NA18955.hp2 NA18993.hp1 NA19078.hp1 NA19080.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0020	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0019c0028 a0020c0029	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0002c0005t0001 a0019c0028t0001 a0020c0029t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(12): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0002t0002g0082 a0001c0002t0002g0086 a0001c0004t0002g0087 a0002c0005t0001g0002 a0002c0005t0001g0081 a0019c0028t0001g0088 a0020c0029t0001g0002	16	344	0.0465	-34	c.-19 others(49): Show c.-19+624_-19+657delCTCTCTCTCTATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470681	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03942.hp2 HG04115.hp1 others(10): Show HG03239.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18942.hp1 NA18995.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19057.hp1 NA19067.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0001 a0001c0026 a0002c0005 others(2): Show a0001c0001 a0001c0026 a0002c0005 a0005c0009 a0013c0020	a0001c0001t0001 a0001c0026t0001 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0026t0001 a0002c0005t0001 a0005c0009t0002 a0013c0020t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(10): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0026t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0121 a0005c0009t0002g0113 a0005c0009t0002g0114 a0013c0020t0001g0120	13	344	0.0378	-34	c.-19 others(49): Show c.-19+626_-19+659delCTCTCTCTATATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470683	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00741.hp2 others(7): Show HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01257.hp2 HG02132.hp1 HG03491.hp1 HG06807.hp1 NA18983.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0001c0001t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 others(7): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0142 a0002c0005t0001g0139	10	344	0.0291	-34	c.-19 others(49): Show c.-19+628_-19+661delCTCTCTATATATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470685	CTCTCTAT others(27): Show CTCTCTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03834.hp2 NA18973.hp2 HG02683.hp2 HG03834.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	3	344	0.0087	-34	c.-19 others(49): Show c.-19+630_-19+663delCTCTATATATATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470687	CTCTATAT others(27): Show CTCTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18953.hp1 NA18960.hp2 others(1): Show NA18951.hp2 NA18953.hp1 NA18960.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212	4	344	0.0116	-34	c.-19 others(49): Show c.-19+632_-19+665delCTATATATATATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470689	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	344	0.0029	-34	c.-19 others(49): Show c.-19+644_-19+677delATATATATATATATATATATATATATATAT ATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95993936	GTGTGTGT others(27): Show GTGTGTGTATGTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00140.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0197 a0001c0007t0001g0244 a0001c0001t0001g0197 a0001c0007t0001g0244	2	312	0.0064	-34	c.264 others(53): Show c.2642+1241_2642+1274delGTGTGTATGTATGTGTATATATATAT ATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993940	GTGTATGT others(27): Show GTGTATGTATGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03688.hp1 HG03453.hp2 HG03688.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0012 a0003c0003 a0009c0012	a0003c0003t0001 a0009c0012t0001 a0003c0003t0001 a0009c0012t0001	a0003c0003t0001g0030 a0009c0012t0001g0081 a0003c0003t0001g0030 a0009c0012t0001g0081	2	312	0.0064	-34	c.264 others(53): Show c.2642+1245_2642+1278delGTATGTATGTGTATATATATATATAT ATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59658354	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 HG02818.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0059 a0001c0001t0005 a0001c0001t0059	a0001c0001t0005g0179 a0001c0001t0059g0035 a0001c0001t0005g0179 a0001c0001t0059g0035	2	242	0.0083	-34	c.212 others(53): Show c.212+38241_212+38274delATATATATATATATATATATATATAT ATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 3456 hits)