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
CATSPERB_chr14_91575698_91737086	91619861	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	271	0.0037	-16	c.226 others(35): Show c.2260+1731_2260+1746delCACACACACACACACA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	19/26			chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG04184.hp1 HG01891.hp2 HG02451.hp2 HG04184.hp1	a0001 a0004 a0027 a0001 a0004 a0027	a0001c0001 a0004c0003 a0027c0036 a0001c0001 a0004c0003 a0027c0036	a0001c0001t0002 a0004c0003t0001 a0027c0036t0001 a0001c0001t0002 a0004c0003t0001 a0027c0036t0001	a0001c0001t0002g0296 a0004c0003t0001g0319 a0027c0036t0001g0297 a0001c0001t0002g0296 a0004c0003t0001g0319 a0027c0036t0001g0297	3	336	0.0089	-16	c.-50 others(27): Show c.-5094_-5079delAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	CATATATA others(9): Show CATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02074.hp1 HG02083.hp1 others(2): Show HG01106.hp1 HG02074.hp1 HG02083.hp1 HG02970.hp1 HG06807.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0004 a0010c0011 a0001c0001 a0003c0004 a0010c0011	a0001c0001t0001 a0003c0004t0001 a0010c0011t0001 a0001c0001t0001 a0003c0004t0001 a0010c0011t0001	a0001c0001t0001g0089 a0003c0004t0001g0322 a0003c0004t0001g0323 others(2): Show a0001c0001t0001g0089 a0003c0004t0001g0322 a0003c0004t0001g0323 a0010c0011t0001g0002 a0010c0011t0001g0003	5	336	0.0149	-16	c.-44 others(27): Show c.-4478_-4463delATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733347	TCTTCCTT others(9): Show TCTTCCTTCCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02027.hp1 NA18943.hp2 others(2): Show HG01346.hp1 HG02027.hp1 NA18943.hp2 NA18946.hp1 NA18999.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0040 a0002c0019 a0003c0041 others(1): Show a0001c0040 a0002c0019 a0003c0041 a0004c0042	a0001c0040t0001 a0002c0019t0001 a0003c0041t0001 others(1): Show a0001c0040t0001 a0002c0019t0001 a0003c0041t0001 a0004c0042t0001	a0001c0040t0001g0331 a0002c0019t0001g0330 a0002c0019t0001g0332 others(2): Show a0001c0040t0001g0331 a0002c0019t0001g0330 a0002c0019t0001g0332 a0003c0041t0001g0329 a0004c0042t0001g0316	5	336	0.0149	-16	c.277 others(31): Show c.277-491_277-476delTTCCTTCCTTCCCTCC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19240.hp2 HG02615.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0100 a0008c0009t0001g0016 a0001c0001t0001g0100 a0008c0009t0001g0016	2	336	0.0060	-16	c.988 others(31): Show c.988-420_988-405delAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751531	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02717.hp2 others(3): Show HG02572.hp2 HG02630.hp2 HG02717.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp2	a0001 a0003 a0023 a0001 a0003 a0023	a0001c0001 a0003c0004 a0023c0026 a0001c0001 a0003c0004 a0023c0026	a0001c0001t0001 a0003c0004t0001 a0023c0026t0002 a0001c0001t0001 a0003c0004t0001 a0023c0026t0002	a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 others(3): Show a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0003c0004t0001g0222 a0003c0004t0001g0230 a0023c0026t0002g0335	6	336	0.0179	-16	c.988 others(29): Show c.988-94_988-79delAAAAAAAAAAAAAAAA	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5765401	GATTTATT others(9): Show GATTTATTCATTCATTC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18964.hp1 NA19066.hp2 NA18954.hp1 NA18964.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0270 a0002c0002t0001g0205 a0002c0002t0001g0209 a0002c0002t0001g0270	3	336	0.0089	-16	c.150 others(33): Show c.1507-698_1507-683delTATTCATTCATTCATT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5765405	TATTCATT others(9): Show TATTCATTCATTCATTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(161): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19074.hp2 NA19078.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0016 a0018 a0022 a0025 a0026 a0028 a0032 a0033 a0034	a0001c0001 a0001c0016 a0002c0002 others(27): Show a0001c0001 a0001c0016 a0002c0002 a0002c0019 a0002c0027 a0003c0004 a0003c0005 a0003c0041 a0003c0043 a0004c0003 a0004c0044 a0005c0006 a0006c0007 a0007c0010 a0008c0009 a0009c0012 a0011c0008 a0012c0015 a0013c0030 a0013c0031 a0015c0018 a0016c0013 a0018c0020 a0022c0025 a0025c0032 a0026c0033 a0028c0029 a0032c0024 a0033c0047 a0034c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0002c0027t0001 a0003c0004t0001 a0003c0005t0001 a0003c0041t0001 a0003c0043t0001 a0004c0003t0001 a0004c0003t0003 a0004c0044t0001 a0005c0006t0001 a0006c0007t0002 a0007c0010t0001 a0008c0009t0001 a0009c0012t0001 a0011c0008t0001 a0012c0015t0001 a0013c0030t0001 a0013c0031t0001 a0015c0018t0001 a0016c0013t0001 a0018c0020t0001 a0022c0025t0001 a0025c0032t0001 a0026c0033t0001 a0028c0029t0001 a0032c0024t0001 a0033c0047t0001 a0034c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0039 others(161): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0265 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0002g0024 a0001c0001t0005g0142 a0001c0016t0001g0126 a0001c0016t0001g0167 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0139 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0197 a0002c0002t0001g0201 a0002c0002t0001g0215 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0266 a0002c0002t0001g0271 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0292 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0305 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0081 a0002c0002t0003g0138 a0002c0019t0001g0330 a0002c0019t0001g0332 a0002c0027t0001g0237 a0003c0004t0001g0022 a0003c0004t0001g0094 a0003c0004t0001g0096 a0003c0004t0001g0098 a0003c0004t0001g0109 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0158 a0003c0004t0001g0192 a0003c0004t0001g0216 a0003c0004t0001g0222 a0003c0004t0001g0230 a0003c0004t0001g0244 a0003c0004t0001g0246 a0003c0004t0001g0281 a0003c0004t0001g0287 a0003c0004t0001g0290 a0003c0004t0001g0294 a0003c0004t0001g0303 a0003c0004t0001g0314 a0003c0004t0001g0322 a0003c0004t0001g0324 a0003c0004t0001g0328 a0003c0004t0001g0333 a0003c0004t0001g0336 a0003c0005t0001g0185 a0003c0005t0001g0214 a0003c0005t0001g0239 a0003c0005t0001g0249 a0003c0005t0001g0254 a0003c0005t0001g0269 a0003c0005t0001g0300 a0003c0041t0001g0329 a0003c0043t0001g0233 a0004c0003t0001g0110 a0004c0003t0001g0179 a0004c0003t0001g0218 a0004c0003t0001g0240 a0004c0003t0001g0242 a0004c0003t0001g0245 a0004c0003t0001g0248 a0004c0003t0001g0274 a0004c0003t0001g0320 a0004c0003t0001g0321 a0004c0003t0003g0053 a0004c0003t0003g0075 a0004c0044t0001g0211 a0005c0006t0001g0217 a0006c0007t0002g0030 a0007c0010t0001g0026 a0007c0010t0001g0029 a0008c0009t0001g0008 a0008c0009t0001g0016 a0008c0009t0001g0032 a0009c0012t0001g0153 a0009c0012t0001g0156 a0009c0012t0001g0159 a0011c0008t0001g0010 a0012c0015t0001g0122 a0012c0015t0001g0125 a0013c0030t0001g0295 a0013c0031t0001g0036 a0015c0018t0001g0308 a0015c0018t0001g0309 a0016c0013t0001g0009 a0016c0013t0001g0015 a0018c0020t0001g0018 a0022c0025t0001g0146 a0025c0032t0001g0334 a0026c0033t0001g0301 a0028c0029t0001g0264 a0032c0024t0001g0204 a0033c0047t0001g0004 a0034c0046t0001g0005	164	336	0.4881	-16	c.150 others(33): Show c.1507-663_1507-648delTCATTCATTCATTCAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5772214	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02083.hp1 HG00438.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0109 a0003c0004t0001g0323 a0003c0004t0001g0109 a0003c0004t0001g0323	2	336	0.0060	-16	c.176 others(33): Show c.1764-558_1764-543delTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244538935	GACTAGCC others(9): Show GACTAGCCAACAGCATC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(167): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0013 others(13): Show a0001c0001 a0001c0002 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0002c0004 a0003c0005 a0004c0009 a0005c0008 a0007c0011 a0008c0024 a0009c0022 a0010c0014 a0011c0017 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0013t0002 a0001c0015t0002 a0001c0016t0001 a0001c0018t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0003c0005t0001 a0003c0005t0003 a0004c0009t0002 a0005c0008t0003 a0007c0011t0001 a0008c0024t0001 a0009c0022t0001 a0010c0014t0004 a0011c0017t0001 a0012c0012t0002	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 others(167): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0003g0072 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0004g0151 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0002t0001g0001 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0052 a0001c0002t0001g0059 a0001c0002t0002g0004 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0062 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0111 a0001c0002t0002g0140 a0001c0002t0003g0143 a0001c0002t0003g0148 a0001c0002t0003g0158 a0001c0002t0003g0204 a0001c0002t0004g0173 a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0191 a0001c0002t0004g0203 a0001c0013t0002g0019 a0001c0015t0002g0136 a0001c0016t0001g0075 a0001c0018t0003g0142 a0002c0004t0001g0022 a0002c0004t0001g0041 a0002c0004t0001g0068 a0002c0004t0001g0082 a0002c0004t0002g0008 a0002c0004t0002g0009 a0002c0004t0002g0015 a0002c0004t0002g0016 a0002c0004t0002g0017 a0002c0004t0002g0023 a0002c0004t0002g0073 a0002c0004t0002g0074 a0002c0004t0004g0170 a0002c0004t0004g0174 a0003c0005t0001g0036 a0003c0005t0001g0049 a0003c0005t0001g0091 a0003c0005t0001g0124 a0003c0005t0003g0141 a0003c0005t0003g0153 a0004c0009t0002g0076 a0004c0009t0002g0078 a0004c0009t0002g0079 a0005c0008t0003g0192 a0005c0008t0003g0194 a0005c0008t0003g0195 a0007c0011t0001g0013 a0007c0011t0001g0105 a0008c0024t0001g0081 a0009c0022t0001g0080 a0010c0014t0004g0161 a0011c0017t0001g0145 a0012c0012t0002g0037	170	206	0.8252	-16	c.537 others(35): Show c.537-13368_537-13353delTAGCCAACAGCATCAC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01109.hp1 others(8): Show HG00735.hp2 HG00741.hp1 HG01109.hp1 HG01433.hp2 HG02145.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 NA18945.hp1 NA19012.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0008c0024	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0002c0004t0001 a0002c0004t0002 a0008c0024t0001	a0001c0001t0001g0109 a0001c0001t0004g0171 a0001c0002t0003g0143 others(8): Show a0001c0001t0001g0109 a0001c0001t0004g0171 a0001c0002t0003g0143 a0001c0002t0003g0204 a0002c0004t0001g0022 a0002c0004t0001g0041 a0002c0004t0001g0068 a0002c0004t0002g0023 a0002c0004t0002g0073 a0002c0004t0002g0074 a0008c0024t0001g0081	11	206	0.0534	-16	c.103 others(35): Show c.1030-3100_1030-3085delTATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18612.hp1 NA19002.hp1 others(1): Show HG02965.hp1 NA18612.hp1 NA19002.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0117 a0001c0001t0002g0061 a0001c0001t0002g0206 others(1): Show a0001c0001t0001g0117 a0001c0001t0002g0061 a0001c0001t0002g0206 a0001c0001t0004g0169	4	206	0.0194	-16	c.201 others(33): Show c.2010-902_2010-887delTATATATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344870	CACACACA others(9): Show CACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02273.hp2 HG02735.hp1 others(4): Show HG00735.hp2 HG02273.hp2 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp2 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 others(4): Show a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0089 a0002c0003t0001g0092	7	376	0.0186	-16	c.669 others(31): Show c.669+504_669+519delCACACACACACATATA	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116523083	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00738.hp2 others(24): Show HG00280.hp1 HG00642.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG02040.hp1 HG02109.hp1 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02818.hp1 HG03239.hp2 HG03490.hp1 NA18953.hp1 NA18962.hp1 NA18970.hp2 NA18977.hp1 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA19055.hp1 NA19059.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0003t0003	a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0058 others(24): Show a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0275 a0001c0001t0002g0010 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0197 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0253 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0324 a0001c0001t0003g0173 a0001c0001t0003g0287 a0001c0001t0004g0083 a0001c0001t0007g0002 a0001c0001t0007g0023 a0001c0001t0009g0062 a0001c0001t0011g0038 a0001c0003t0003g0178	27	342	0.0790	-16	c.-19 others(27): Show c.-1979_-1964delGAAGGAAGGAAGGAAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1952		chr7	TogoVar
CAV1_chr7_116520036_116566179	116523135	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	342	0.0029	-16	c.-19 others(27): Show c.-1927_-1912delGAAGGAAGGAAGGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1900		chr7	TogoVar
CAV1_chr7_116520036_116566179	116533348	TAAATAAA others(9): Show TAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01109.hp1 others(14): Show HG00423.hp1 HG00621.hp1 HG01109.hp1 HG01169.hp2 HG01516.hp2 HG01928.hp1 HG02055.hp2 HG02148.hp2 HG02647.hp1 HG02717.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03490.hp1 HG03704.hp2 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0119 a0001c0001t0001g0120 others(14): Show a0001c0001t0001g0077 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0002g0065 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0264 a0001c0001t0002g0277 a0001c0001t0002g0304 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324	17	342	0.0497	-16	c.195 others(33): Show c.195+6662_195+6677delATAAAATAAAATAAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	342	0.0029	-16	c.196 others(33): Show c.196-3416_196-3401delGAGAGAGAGAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116562940	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18962.hp2 NA18967.hp1 others(1): Show HG00597.hp1 NA18962.hp2 NA18967.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 others(1): Show a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0143	4	342	0.0117	-16	c.36 others(27): Show c.3654_*3669delAGGAAGGAAGGAAGGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1762		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42410892	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp2 HG01891.hp1 others(27): Show HG00323.hp1 HG01361.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp2 NA18906.hp2 NA19043.hp2 NA19081.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0003t0006 a0001c0007t0001 a0002c0011t0006	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0038 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0109 a0001c0001t0006g0212 a0001c0001t0027g0090 a0001c0003t0006g0099 a0001c0003t0006g0105 a0001c0003t0006g0106 a0001c0003t0006g0107 a0001c0003t0006g0108 a0001c0007t0001g0030 a0002c0011t0006g0091	30	338	0.0888	-16	c.472 others(33): Show c.472-5520_472-5505delTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33494267	ATATATAT others(9): Show ATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	298	0.0034	-16	c.34+ others(31): Show c.34+3968_34+3983delATATATTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33616078	GAGATAGA others(9): Show GAGATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02155.hp2 HG01496.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0058 a0001c0001t0004g0039 a0001c0001t0004g0058	2	298	0.0067	-16	c.421 others(33): Show c.421-3398_421-3383delAGATAGATAGATAGAT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642108	TTTTTTTT others(9): Show TTTTTTTTTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02818.hp1 others(3): Show HG02486.hp2 HG02572.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 others(3): Show a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0066	6	298	0.0201	-16	c.148 others(35): Show c.1488+1579_1488+1594delTTTTTTTTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642110	TTTTTTTT others(9): Show TTTTTTTTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG02523.hp1 HG00544.hp2 HG00741.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0020g0160 a0001c0001t0001g0258 a0001c0001t0001g0269 a0001c0001t0020g0160	3	298	0.0101	-16	c.148 others(35): Show c.1488+1581_1488+1596delTTTTTTGTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33642114	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	298	0.0034	-16	c.148 others(35): Show c.1488+1585_1488+1600delTTGTGTGTGTGTGTGT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03453.hp2 NA18964.hp1 HG00099.hp2 HG03453.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002	a0001c0001t0003g0110 a0001c0001t0005g0081 a0001c0002t0002g0175 a0001c0001t0003g0110 a0001c0001t0005g0081 a0001c0002t0002g0175	3	298	0.0101	-16	c.148 others(33): Show c.1489-545_1489-530delTATATATATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88882461	GTGTGCGT others(9): Show GTGTGCGTGGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19004.hp2 NA19005.hp2 others(1): Show NA18950.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0003t0004 a0001c0001t0004 a0001c0003t0001 a0001c0003t0004	a0001c0001t0004g0074 a0001c0003t0001g0204 a0001c0003t0004g0199 others(1): Show a0001c0001t0004g0074 a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200	4	284	0.0141	-16	c.120 others(33): Show c.1203+199_1203+214delGCCACCCCCACGCACA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88882596	CTGTGTGT others(9): Show CTGTGTGTGCGTGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG02965.hp1 HG01167.hp2 HG02896.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0005 a0001c0001t0033 a0001c0002t0005	a0001c0001t0033g0116 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0001t0033g0116 a0001c0002t0005g0005 a0001c0002t0005g0217	3	284	0.0106	-16	c.120 others(31): Show c.1203+64_1203+79delCAGCCACGCACACACA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88887037	GTGCTGGA others(9): Show GTGCTGGACCCTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0138 a0002c0004t0001g0138	1	284	0.0035	-16	c.712 others(31): Show c.712-911_712-896delTGCTCAGGGTCCAGCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88917349	AGGGGAGG others(9): Show AGGGGAGGGCCTGCCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	284	0.0035	-16	c.152 others(35): Show c.152-15709_152-15694delGGGGCAGGCCCTCCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88964909	TATCCATC others(9): Show TATCCATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0025 a0001c0009t0007 a0001c0001t0025 a0001c0009t0007	a0001c0001t0025g0099 a0001c0009t0007g0100 a0001c0001t0025g0099 a0001c0009t0007g0100	2	284	0.0070	-16	c.151 others(35): Show c.151+11732_151+11747delGGATGGATGGATGGAT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88973604	AACCCAGA others(9): Show AACCCAGAACATTCCGG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	284	0.0035	-16	c.151 others(33): Show c.151+3037_151+3052delCCGGAATGTTCTGGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLB_chr3_105650461_105874012	105665404	AATAAATA others(9): Show AATAAATAAATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0045 a0006c0015t0045	a0006c0015t0045g0380 a0006c0015t0045g0380	1	380	0.0026	-16	c.268 others(35): Show c.2689+4813_2689+4828delATATTTATTTATTTAT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105665430	TATATATA others(9): Show TATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0329 a0001c0003t0005g0329	1	380	0.0026	-16	c.268 others(35): Show c.2689+4787_2689+4802delGTGTATATATATATAT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CBLB_chr3_105650461_105874012	105754507	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0295 a0001c0002t0008g0295	1	380	0.0026	-16	c.567 others(33): Show c.567-2905_567-2890delGTCTCTCTCTCTCTCT	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18			chr3	TogoVar
CBLC_chr19_44772890_44805652	44785532	GTAGATAG others(9): Show GTAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG02145.hp2 others(7): Show HG00140.hp2 HG02109.hp2 HG02145.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03579.hp1 NA18522.hp2	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0007 a0001c0008 a0001c0009 others(1): Show a0000c0007 a0001c0008 a0001c0009 a0003c0005	a0000c0007t0001 a0001c0008t0001 a0001c0009t0002 others(1): Show a0000c0007t0001 a0001c0008t0001 a0001c0009t0002 a0003c0005t0001	a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 others(5): Show a0000c0007t0001g0014 a0000c0007t0001g0042 a0000c0007t0001g0046 a0001c0008t0001g0015 a0001c0008t0001g0056 a0001c0009t0002g0064 a0003c0005t0001g0054 a0003c0005t0001g0055	10	344	0.0291	-16	c.917 others(33): Show c.917+1159_917+1174delATAGATAGATAGATAG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBLIF_chr11_59824273_59850499	59834240	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19043.hp2 HG01928.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0049 a0001c0003t0001g0144 a0001c0001t0001g0049 a0001c0003t0001g0144	2	342	0.0059	-16	c.107 others(35): Show c.1073+1552_1073+1567delGAAAGAAAGAAAGAAA	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLL1_chr7_107739142_107766667	107764446	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp2 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0004g0070 a0001c0001t0001g0031 a0001c0001t0004g0070	2	432	0.0046	-16	c.52 others(27): Show c.5269_*5284delTGTGTGTGTGTGTGTG	CBLL1	ENSG00000105879.13	transcript	ENST00000440859.8	protein_coding		2780		chr7	TogoVar
CBLL2_chrX_22267913_22279461	22271960	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG01070.hp2 others(60): Show HG00621.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18953.hp1 NA18962.hp1 NA18965.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18976.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA19001.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19060.hp1 NA19072.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0010t0001 a0007c0009t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0003t0002g0000 a0002c0010t0001g0000 a0007c0009t0001g0000	63	346	0.1821	-16	c.-10 others(27): Show c.-1031_-1016delTTTTTTTTTTTTTTTT	CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding		952		chrX	TogoVar
CBLN2_chr18_72531681_72549342	72547110	TCACACAC others(9): Show TCACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(106): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG02015.hp1 HG02015.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02970.hp1 HG02976.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0024 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0001t0024 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0003t0002 a0001c0003t0009 a0001c0003t0017 a0001c0003t0026 a0001c0005t0002 a0001c0009t0006	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0024g0092 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0024g0092 a0001c0002t0003g0012 a0001c0002t0006g0019 a0001c0002t0006g0020 a0001c0002t0006g0043 a0001c0002t0006g0112 a0001c0002t0006g0113 a0001c0002t0006g0115 a0001c0002t0009g0101 a0001c0002t0009g0105 a0001c0002t0012g0057 a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0021 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0090 a0001c0003t0002g0091 a0001c0003t0002g0096 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0009g0094 a0001c0003t0009g0095 a0001c0003t0009g0097 a0001c0003t0009g0099 a0001c0003t0017g0116 a0001c0003t0017g0117 a0001c0003t0026g0104 a0001c0005t0002g0038 a0001c0005t0002g0093 a0001c0005t0002g0098 a0001c0005t0002g0100 a0001c0009t0006g0114	109	416	0.2620	-16	c.-33 others(27): Show c.-3361_-3346delTGTGTGTGTGTGTGTG	CBLN2	ENSG00000141668.10	transcript	ENST00000269503.9	protein_coding		2769		chr18	TogoVar
CBLN4_chr20_55992357_56010519	56010246	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(79): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01192.hp2 HG01256.hp2 HG01515.hp2 HG01516.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0032 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0004g0006 a0001c0001t0013g0021 a0001c0001t0013g0063 a0001c0001t0017g0025 a0001c0001t0023g0037 a0001c0001t0030g0057 a0001c0001t0033g0064 a0001c0001t0035g0075	82	426	0.1925	-16	c.-60 others(27): Show c.-6091_-6076delGAGAGAGAGAGAGAGA	CBLN4	ENSG00000054803.4	transcript	ENST00000064571.3	protein_coding		4728		chr20	TogoVar
CBL_chr11_119201339_119313149	119216339	AATTTATT others(9): Show AATTTATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(103): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG01952.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA19001.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0007 a0002c0003 others(3): Show a0001c0001 a0001c0007 a0002c0003 a0004c0012 a0005c0011 a0007c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0061 a0001c0007t0002 a0002c0003t0002 a0004c0012t0002 a0005c0011t0002 a0007c0009t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(103): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0004g0253 a0001c0001t0004g0278 a0001c0001t0004g0287 a0001c0001t0004g0303 a0001c0001t0004g0315 a0001c0001t0004g0326 a0001c0001t0004g0328 a0001c0001t0004g0335 a0001c0001t0014g0265 a0001c0001t0014g0314 a0001c0001t0014g0323 a0001c0001t0017g0273 a0001c0001t0018g0258 a0001c0001t0018g0259 a0001c0001t0018g0260 a0001c0001t0019g0028 a0001c0001t0019g0031 a0001c0001t0020g0264 a0001c0001t0020g0340 a0001c0001t0021g0007 a0001c0001t0021g0008 a0001c0001t0031g0271 a0001c0001t0032g0292 a0001c0001t0061g0252 a0001c0007t0002g0327 a0002c0003t0002g0309 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0350 a0004c0012t0002g0308 a0005c0011t0002g0300 a0007c0009t0002g0306	106	364	0.2912	-16	c.195 others(33): Show c.195+9760_195+9775delATTTATTTATTTATTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119245956	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 NA20300.hp2 HG02976.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059	3	364	0.0082	-16	c.443 others(35): Show c.443+13280_443+13295delTTTTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36137503	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp1 others(106): Show HG00140.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02723.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0005c0005 a0007c0010	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0005c0005t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0247 a0001c0004t0001g0170 a0001c0004t0001g0243 a0001c0004t0001g0302 a0003c0003t0001g0250 a0005c0005t0001g0014 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0263 a0005c0005t0001g0286 a0007c0010t0001g0210	109	424	0.2571	-16	c.290 others(31): Show c.290-279_290-264delGGAAGGAAGGAAGGAA	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CBX1_chr17_48065059_48106478	48080945	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01099.hp2 others(1): Show HG00280.hp2 HG00741.hp1 HG01099.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0186 others(1): Show a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0186 a0001c0001t0003g0190	4	396	0.0101	-16	c.-37 others(33): Show c.-37-3920_-37-3905delATATATATATTTTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080947	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	396	0.0025	-16	c.-37 others(33): Show c.-37-3922_-37-3907delATATATATATATTTTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080949	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03195.hp2 NA18948.hp1 others(1): Show HG02698.hp1 HG03195.hp2 NA18948.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0058 a0001c0001t0002g0084 a0001c0001t0003g0163 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0084 a0001c0001t0003g0163 a0001c0001t0003g0195	4	396	0.0101	-16	c.-37 others(33): Show c.-37-3924_-37-3909delATATATATATATATTT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX1_chr17_48065059_48106478	48080951	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02922.hp2 NA18990.hp1 others(2): Show HG00438.hp1 HG02922.hp2 NA18990.hp1 NA18993.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0004 a0001c0001t0003g0165 a0001c0001t0003g0209 others(1): Show a0001c0001t0003g0004 a0001c0001t0003g0165 a0001c0001t0003g0209 a0001c0001t0006g0213	5	396	0.0126	-16	c.-37 others(33): Show c.-37-3926_-37-3911delATATATATATATATAT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX3_chr7_26196745_26218607	26208917	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	2	410	0.0049	-16	c.330 others(31): Show c.330+381_330+396delTTTTTTTTTTTTTTTT	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBX3_chr7_26196745_26218607	26212580	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG01517.hp2 others(3): Show HG01099.hp2 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG03017.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057 others(1): Show a0001c0001t0012g0019 a0001c0001t0012g0056 a0001c0001t0012g0057 a0001c0001t0012g0058	6	410	0.0146	-16	c.37 others(25): Show c.374_*389delTTGTGTGTGTGTGTGT	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding	6/6	374	INFO_REALIGN_3_PRIME	chr7	TogoVar
CBX3_chr7_26196745_26218607	26217320	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01517.hp2 HG02809.hp1 HG02965.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012	a0001c0001t0003g0001 a0001c0001t0004g0036 a0001c0001t0012g0019 a0001c0001t0003g0001 a0001c0001t0004g0036 a0001c0001t0012g0019	4	410	0.0098	-16	c.51 others(27): Show c.5113_*5128delAAAAAAAAAAAAAAAA	CBX3	ENSG00000122565.19	transcript	ENST00000396386.7	protein_coding		3714		chr7	TogoVar

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