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
CDYL_chr6_4771404_4960544	4894943	G G	GTGTATAT others(3): Show GTGTATATGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0141 a0001c0009t0002g0141	1	250	0.0040	10	c.691 others(27): Show c.691+2565_691+2566insGTATATGTAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4897790	G G	GTTTTGTT others(3): Show GTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(118): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18985.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0006t0002 a0001c0007t0003	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 others(118): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0248 a0001c0001t0003g0085 a0001c0001t0003g0101 a0001c0001t0003g0177 a0001c0001t0003g0230 a0001c0001t0003g0244 a0001c0001t0004g0150 a0001c0001t0005g0104 a0001c0001t0007g0095 a0001c0001t0008g0021 a0001c0001t0011g0065 a0001c0001t0012g0049 a0001c0002t0001g0007 a0001c0002t0001g0243 a0001c0002t0003g0121 a0001c0002t0004g0005 a0001c0002t0004g0125 a0001c0003t0002g0241 a0001c0006t0002g0004 a0001c0006t0002g0226 a0001c0007t0003g0088	121	250	0.4840	10	c.691 others(27): Show c.691+5415_691+5416insGTTTTTTTTT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4897790	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	250	0.0040	10	c.691 others(27): Show c.691+5414_691+5423dupTTTTTTTTTT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4897791	T T	TTTTGTTT others(3): Show TTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00609.hp2 others(25): Show HG00140.hp2 HG00597.hp1 HG00609.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18975.hp1 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA19030.hp1 NA19063.hp2 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0002	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0245 a0001c0001t0002g0031 a0001c0001t0002g0045 a0001c0001t0002g0099 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0002t0001g0148 a0001c0005t0002g0164 a0001c0005t0002g0167	28	250	0.1120	10	c.691 others(27): Show c.691+5415_691+5416insGTTTTTGTTT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	250	0.0040	10	c.691 others(27): Show c.691+8442_691+8451dupATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(3): Show GTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG02698.hp2 HG00140.hp1 HG01071.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0192 a0001c0001t0001g0213 a0001c0001t0001g0072 a0001c0001t0001g0192 a0001c0001t0001g0213	3	250	0.0120	10	c.691 others(27): Show c.691+8401_691+8402insGTGTGTATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4920995	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00609.hp2 others(23): Show HG00140.hp2 HG00408.hp1 HG00609.hp2 HG00621.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02602.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA19063.hp2 NA19064.hp2 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(23): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0245 a0001c0001t0002g0031 a0001c0001t0002g0070 a0001c0001t0002g0099 a0001c0001t0002g0137 a0001c0001t0002g0142	26	250	0.1040	10	c.692 others(29): Show c.692-14510_692-14501dupGTGTGTGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4927428	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02647.hp1 HG02886.hp1 others(7): Show HG00099.hp1 HG02647.hp1 HG02886.hp1 HG03490.hp2 HG03492.hp2 NA18952.hp1 NA18999.hp1 NA19066.hp1 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0006	a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0216 others(7): Show a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0216 a0001c0001t0002g0018 a0001c0001t0002g0126 a0001c0001t0002g0197 a0001c0001t0003g0101 a0001c0001t0007g0095 a0001c0002t0006g0170 a0001c0002t0006g0207	10	250	0.0400	10	c.692 others(27): Show c.692-8064_692-8055dupGTGTGTGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4929493	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01109.hp1 others(15): Show HG00609.hp1 HG00741.hp1 HG01109.hp1 HG01884.hp2 HG02080.hp2 HG02109.hp2 HG02698.hp1 HG02965.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 NA18522.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0001c0007t0003 a0001c0010t0004	a0001c0001t0001g0016 a0001c0001t0001g0198 a0001c0001t0001g0249 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0198 a0001c0001t0001g0249 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0099 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0196 a0001c0001t0002g0228 a0001c0001t0002g0250 a0001c0006t0002g0004 a0001c0007t0003g0088 a0001c0010t0004g0113	18	250	0.0720	10	c.692 others(27): Show c.692-5998_692-5989dupCACACACACA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM16_chr19_44694151_44715718	44706269	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp1 HG01346.hp2 others(5): Show HG00621.hp2 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG03130.hp2 HG04115.hp1 HG04115.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0099 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0099 a0001c0001t0001g0121 a0001c0006t0001g0053	8	450	0.0178	10	c.940 others(25): Show c.940+435_940+444dupCACACACACA	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM16_chr19_44694151_44715718	44706297	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18986.hp1 HG02145.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0071 a0001c0002t0001g0074	2	450	0.0044	10	c.940 others(25): Show c.940+438_940+439insTACACACACA	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM18_chr19_51473539_51496301	51475748	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02896.hp2 others(1): Show HG02622.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0012 a0006c0007t0003g0012	4	420	0.0095	10	c.-28 others(21): Show c.-2895_-2894insAAAAAAAAAA	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding		2790		chr19	TogoVar
CEACAM18_chr19_51473539_51496301	51494150	C C	CAAGCATC others(3): Show CAAGCATCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	420	0.0024	10	c.34 others(21): Show c.3498_*3499insAAGCATCACT	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding		2850		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44675097	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp2 HG02135.hp1 others(7): Show HG00741.hp1 HG02040.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02922.hp1 HG03471.hp2 NA18990.hp1 NA19054.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0002g0025 a0001c0001t0006g0063	10	390	0.0256	10	c.425 others(27): Show c.425-1143_425-1134dupGTGTGTGTGT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513893	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	290	0.0035	10	c.124 others(29): Show c.1247-1424_1247-1415dupATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TAAATAAA others(3): Show TAAATAAATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01891.hp1 others(7): Show HG01109.hp2 HG01123.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0015 a0002c0003t0002 a0002c0003t0015	a0002c0003t0002g0018 a0002c0003t0002g0034 a0002c0003t0002g0156 others(4): Show a0002c0003t0002g0018 a0002c0003t0002g0034 a0002c0003t0002g0156 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0015g0157	10	290	0.0345	10	c.124 others(29): Show c.1247-1437_1247-1436insTTATTTATTT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42527504	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02738.hp1 NA20805.hp1 HG00609.hp2 HG02738.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0122 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0122	3	290	0.0103	10	c.65- others(23): Show c.65-114_65-105dupACACACACAC	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	1/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510610	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02132.hp1 HG02523.hp2 others(4): Show HG01934.hp2 HG02132.hp1 HG02523.hp2 HG02647.hp1 HG02895.hp1 HG06807.hp2 NA19080.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0005 a0003c0004 a0005c0005	a0003c0004t0001 a0005c0005t0001 a0005c0005t0003 a0003c0004t0001 a0005c0005t0001 a0005c0005t0003	a0003c0004t0001g0026 a0003c0004t0001g0308 a0005c0005t0001g0023 others(2): Show a0003c0004t0001g0026 a0003c0004t0001g0308 a0005c0005t0001g0023 a0005c0005t0001g0335 a0005c0005t0003g0028	7	438	0.0160	10	c.173 others(27): Show c.1737+419_1737+420insCTTTCTTTCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510611	A A	AGAAAGGA others(3): Show AGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01256.hp2 others(8): Show HG00438.hp1 HG01074.hp1 HG01256.hp2 HG01258.hp1 HG02148.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 NA18957.hp1 NA18989.hp1 NA19090.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0021	a0001c0001 a0003c0004 a0005c0005 others(3): Show a0001c0001 a0003c0004 a0005c0005 a0006c0009 a0006c0010 a0021c0027	a0001c0001t0001 a0003c0004t0001 a0005c0005t0001 others(3): Show a0001c0001t0001 a0003c0004t0001 a0005c0005t0001 a0006c0009t0001 a0006c0010t0001 a0021c0027t0001	a0001c0001t0001g0016 a0001c0001t0001g0204 a0001c0001t0001g0225 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0204 a0001c0001t0001g0225 a0003c0004t0001g0401 a0005c0005t0001g0169 a0005c0005t0001g0175 a0006c0009t0001g0389 a0006c0010t0001g0114 a0006c0010t0001g0115 a0021c0027t0001g0079	11	438	0.0251	10	c.173 others(27): Show c.1737+418_1737+419insCCTTCCTTTC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510611	A A	AGGAAGGA others(3): Show AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0030 a0006c0010 a0006c0030	a0006c0010t0001 a0006c0030t0001 a0006c0010t0001 a0006c0030t0001	a0006c0010t0001g0120 a0006c0030t0001g0118 a0006c0010t0001g0120 a0006c0030t0001g0118	2	438	0.0046	10	c.173 others(27): Show c.1737+418_1737+419insCCTTCCTTCC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532505	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02145.hp1 HG01891.hp1 HG02055.hp1 HG02145.hp1	a0016 a0018 a0016 a0018	a0016c0034 a0018c0024 a0016c0034 a0018c0024	a0016c0034t0001 a0018c0024t0001 a0016c0034t0001 a0018c0024t0001	a0016c0034t0001g0070 a0018c0024t0001g0040 a0018c0024t0001g0041 a0016c0034t0001g0070 a0018c0024t0001g0040 a0018c0024t0001g0041	3	438	0.0069	10	c.-29 others(21): Show c.-2997_-2996insCTTTCTTTCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2831		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41622853	T T	TAGATAGA others(3): Show TAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0050 a0002c0003t0008g0050	2	437	0.0046	10	c.425 others(27): Show c.425-1086_425-1085insCTATCTATCT	CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	2/6			chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41709537	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02145.hp1 HG02258.hp1 others(10): Show HG00408.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02723.hp2 HG03098.hp1 HG03130.hp2 NA18970.hp1 NA18983.hp1 NA19055.hp2 NA19070.hp2 NA19080.hp2 NA19240.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0007 a0009c0009 a0001c0001 a0007c0007 a0009c0009	a0001c0001t0002 a0007c0007t0004 a0009c0009t0002 a0001c0001t0002 a0007c0007t0004 a0009c0009t0002	a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0052 others(7): Show a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0102 a0001c0001t0002g0103 a0007c0007t0004g0101 a0009c0009t0002g0125	13	374	0.0348	10	c.65- others(23): Show c.65-122_65-113dupACACACACAC	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41728786	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(47): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG01123.hp2 HG01175.hp1 HG01433.hp1 HG01928.hp1 HG01978.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18966.hp1 NA18968.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19011.hp2 NA19012.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19085.hp2 NA19240.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0009 a0010 a0018	a0001c0001 a0003c0017 a0005c0005 others(5): Show a0001c0001 a0003c0017 a0005c0005 a0006c0006 a0007c0007 a0009c0009 a0010c0011 a0018c0026	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0003c0017t0004 a0005c0005t0002 a0006c0006t0002 a0006c0006t0004 a0007c0007t0007 a0009c0009t0002 a0010c0011t0002 a0018c0026t0002	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0027 others(23): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0162 a0001c0001t0004g0104 a0001c0001t0008g0076 a0001c0001t0008g0090 a0003c0017t0004g0049 a0005c0005t0002g0056 a0006c0006t0002g0129 a0006c0006t0004g0128 a0007c0007t0007g0030 a0007c0007t0007g0095 a0007c0007t0007g0097 a0009c0009t0002g0125 a0010c0011t0002g0085 a0018c0026t0002g0002	50	374	0.1337	10	c.37 others(25): Show c.37-388_*37-379dupAAAAAAAAAA	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM6_chr19_41750530_41777211	41756453	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	426	0.0024	10	c.65- others(23): Show c.65-116_65-107dupACACACACAC	CEACAM6	ENSG00000086548.9	transcript	ENST00000199764.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEBPD_chr8_47731913_47743164	47740915	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02572.hp2 others(3): Show HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	316	0.0190	10	c.-27 others(21): Show c.-2796_-2795insTTTTTTTTTT	CEBPD	ENSG00000221869.5	transcript	ENST00000408965.4	protein_coding		2752		chr8	TogoVar
CEBPE_chr14_23112306_23124255	23117248	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG02083.hp2 others(4): Show HG00099.hp2 HG01516.hp2 HG02083.hp2 HG02155.hp2 HG03195.hp2 HG03654.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	7	458	0.0153	10	c.22 others(19): Show c.229_*238dupGTGTGTGTGT	CEBPE	ENSG00000092067.7	transcript	ENST00000206513.6	protein_coding		57		chr14	TogoVar
CEBPE_chr14_23112306_23124255	23120510	T T	TGGGGGGG others(3): Show TGGGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01081.hp1 others(8): Show HG00642.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0003c0004t0001g0013 a0001c0001t0001g0001 a0003c0004t0001g0013	11	458	0.0240	10	c.-14 others(21): Show c.-1420_-1419insCACCCCCCCC	CEBPE	ENSG00000092067.7	transcript	ENST00000206513.6	protein_coding		1256		chr14	TogoVar
CEBPG_chr19_33368709_33387686	33385053	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	436	0.0023	10	c.53 others(21): Show c.5361_*5362insTTTTTTTTTT	CEBPG	ENSG00000153879.9	transcript	ENST00000284000.9	protein_coding		2368		chr19	TogoVar
CECR2_chr22_17364460_17563151	17379581	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp1 NA18994.hp1 others(1): Show HG01109.hp2 HG03471.hp1 NA18994.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0023 a0001c0001t0039 others(1): Show a0001c0001t0011 a0001c0001t0023 a0001c0001t0039 a0002c0002t0006	a0001c0001t0011g0171 a0001c0001t0023g0300 a0001c0001t0039g0278 others(1): Show a0001c0001t0011g0171 a0001c0001t0023g0300 a0001c0001t0039g0278 a0002c0002t0006g0320	4	324	0.0124	10	c.126 others(27): Show c.126+9707_126+9716dupGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17404364	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01256.hp1 others(10): Show HG00642.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01943.hp2 HG01978.hp2 HG02622.hp1 HG03491.hp2 NA18944.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0019 a0002c0002 others(2): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0003c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0042 a0001c0019t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0032 a0003c0003t0007 a0003c0025t0007	a0001c0001t0002g0242 a0001c0001t0004g0179 a0001c0001t0005g0216 others(10): Show a0001c0001t0002g0242 a0001c0001t0004g0179 a0001c0001t0005g0216 a0001c0001t0005g0241 a0001c0001t0007g0260 a0001c0001t0013g0236 a0001c0001t0042g0322 a0001c0019t0002g0104 a0002c0002t0001g0078 a0002c0002t0003g0082 a0002c0002t0032g0086 a0003c0003t0007g0073 a0003c0025t0007g0088	13	324	0.0401	10	c.126 others(29): Show c.126+34458_126+34459insTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17421614	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02559.hp2 others(5): Show HG02145.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp1 NA18945.hp1 NA18971.hp2 NA18978.hp1 NA19065.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0069 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0069 a0002c0002t0002 a0002c0002t0003 a0002c0002t0027 a0004c0004t0006	a0001c0001t0002g0021 a0001c0001t0003g0019 a0001c0001t0003g0203 others(5): Show a0001c0001t0002g0021 a0001c0001t0003g0019 a0001c0001t0003g0203 a0001c0001t0069g0265 a0002c0002t0002g0225 a0002c0002t0003g0020 a0002c0002t0027g0133 a0004c0004t0006g0268	8	324	0.0247	10	c.126 others(29): Show c.126+51725_126+51734dupAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428798	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01257.hp1 others(36): Show HG00438.hp2 HG00673.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02738.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA18950.hp1 NA18960.hp1 NA18969.hp2 NA18977.hp2 NA18979.hp2 NA18994.hp1 NA19004.hp1 NA19060.hp2 NA19065.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0040 a0001c0001t0058 a0001c0001t0068 a0001c0001t0071 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0012 a0002c0002t0021 a0002c0002t0065 a0002c0010t0041 a0004c0004t0012 a0004c0004t0017 a0004c0004t0026 a0005c0005t0016	a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0138 others(36): Show a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0227 a0001c0001t0002g0057 a0001c0001t0002g0178 a0001c0001t0002g0242 a0001c0001t0003g0176 a0001c0001t0004g0074 a0001c0001t0004g0148 a0001c0001t0005g0216 a0001c0001t0007g0260 a0001c0001t0008g0316 a0001c0001t0010g0002 a0001c0001t0010g0014 a0001c0001t0016g0026 a0001c0001t0017g0312 a0001c0001t0022g0309 a0001c0001t0023g0300 a0001c0001t0024g0301 a0001c0001t0028g0196 a0001c0001t0040g0283 a0001c0001t0058g0292 a0001c0001t0068g0150 a0001c0001t0071g0129 a0002c0002t0001g0185 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0082 a0002c0002t0004g0146 a0002c0002t0008g0298 a0002c0002t0012g0100 a0002c0002t0021g0323 a0002c0002t0065g0217 a0002c0010t0041g0269 a0004c0004t0012g0144 a0004c0004t0017g0006 a0004c0004t0026g0284 a0005c0005t0016g0181	39	324	0.1204	10	c.127 others(29): Show c.127-48770_127-48761dupGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428826	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp1 HG01255.hp1 HG00733.hp2 HG01071.hp1 HG01255.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0077 a0002c0002t0003 a0001c0001t0013 a0001c0001t0077 a0002c0002t0003	a0001c0001t0013g0114 a0001c0001t0077g0257 a0002c0002t0003g0056 a0001c0001t0013g0114 a0001c0001t0077g0257 a0002c0002t0003g0056	3	324	0.0093	10	c.127 others(29): Show c.127-48761_127-48760insGTGTGTGTAT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17434104	T T	TAAATAAG others(3): Show TAAATAAGCAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01255.hp2 others(33): Show HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01928.hp2 HG01943.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0016	a0001c0001 a0001c0008 a0001c0009 others(4): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0004c0004 a0011c0015 a0016c0024	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(24): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0038 a0001c0001t0040 a0001c0001t0049 a0001c0001t0057 a0001c0001t0076 a0001c0008t0036 a0001c0009t0075 a0002c0002t0006 a0002c0002t0018 a0002c0002t0021 a0002c0002t0031 a0004c0004t0006 a0011c0015t0051 a0016c0024t0070	a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0006g0311 others(33): Show a0001c0001t0001g0125 a0001c0001t0001g0227 a0001c0001t0006g0311 a0001c0001t0008g0308 a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0009g0168 a0001c0001t0010g0002 a0001c0001t0010g0014 a0001c0001t0011g0136 a0001c0001t0011g0172 a0001c0001t0012g0098 a0001c0001t0015g0262 a0001c0001t0015g0288 a0001c0001t0019g0159 a0001c0001t0019g0285 a0001c0001t0020g0051 a0001c0001t0025g0297 a0001c0001t0028g0196 a0001c0001t0030g0054 a0001c0001t0030g0204 a0001c0001t0038g0293 a0001c0001t0040g0283 a0001c0001t0049g0296 a0001c0001t0057g0245 a0001c0001t0076g0287 a0001c0008t0036g0015 a0001c0009t0075g0195 a0002c0002t0006g0010 a0002c0002t0018g0281 a0002c0002t0021g0323 a0002c0002t0031g0243 a0004c0004t0006g0197 a0004c0004t0006g0268 a0011c0015t0051g0275 a0016c0024t0070g0194	36	324	0.1111	10	c.127 others(29): Show c.127-43484_127-43483insAAATAAGCAG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17447033	C C	CTGTTTTT others(3): Show CTGTTTTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0267 a0004c0004t0026g0267	1	324	0.0031	10	c.127 others(29): Show c.127-30554_127-30553insGTTTTTCTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17447033	C C	CTGTTTTT others(3): Show CTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02258.hp1 HG03195.hp2 others(4): Show HG00597.hp1 HG02258.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp2 NA18978.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0010 a0001c0001t0035 others(4): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0035 a0002c0002t0002 a0002c0002t0043 a0002c0002t0055 a0004c0004t0020	a0001c0001t0002g0230 a0001c0001t0010g0314 a0001c0001t0035g0324 others(4): Show a0001c0001t0002g0230 a0001c0001t0010g0314 a0001c0001t0035g0324 a0002c0002t0002g0225 a0002c0002t0043g0007 a0002c0002t0055g0039 a0004c0004t0020g0286	7	324	0.0216	10	c.127 others(29): Show c.127-30554_127-30553insGTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17451606	G G	GCACCAGA others(3): Show GCACCAGAGCC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0233 a0002c0002t0003g0233	1	324	0.0031	10	c.127 others(29): Show c.127-25979_127-25970dupCCAGAGCCCA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17480419	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01123.hp2 others(18): Show HG00621.hp1 HG00741.hp1 HG01123.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG02273.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03579.hp2 HG04228.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA19007.hp2 NA19012.hp2 NA19058.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0003c0003t0062	a0001c0001t0001g0138 a0001c0001t0001g0239 a0001c0001t0001g0248 others(18): Show a0001c0001t0001g0138 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0002g0027 a0001c0001t0002g0200 a0001c0001t0003g0041 a0001c0001t0004g0064 a0001c0001t0004g0105 a0001c0001t0005g0211 a0001c0001t0008g0304 a0001c0001t0010g0040 a0001c0001t0010g0198 a0001c0001t0010g0271 a0001c0001t0011g0126 a0001c0001t0014g0071 a0001c0001t0028g0196 a0002c0002t0001g0175 a0002c0002t0003g0218 a0002c0002t0006g0302 a0003c0003t0062g0220	21	324	0.0648	10	c.221 others(27): Show c.221+2769_221+2778dupCACACACACA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17480459	C C	CACACACA others(3): Show CACACACAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01891.hp2 HG02109.hp2 others(7): Show HG01070.hp2 HG01891.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1 HG03927.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0039 a0001c0001t0046 a0001c0001t0058 a0004c0004t0006	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0004g0167 others(7): Show a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0006g0319 a0001c0001t0015g0180 a0001c0001t0039g0278 a0001c0001t0046g0009 a0001c0001t0058g0292 a0004c0004t0006g0268	10	324	0.0309	10	c.221 others(27): Show c.221+2778_221+2779insCACACAGAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17480459	C C	CACACAGA others(3): Show CACACAGAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0318 a0001c0001t0023g0318	1	324	0.0031	10	c.221 others(27): Show c.221+2778_221+2779insCACAGAGAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17482115	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG04228.hp2 others(3): Show HG01123.hp2 HG01168.hp1 HG04228.hp2 NA18962.hp1 NA18970.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0002c0002t0003 a0002c0002t0004	a0001c0001t0002g0215 a0001c0001t0003g0019 a0001c0001t0005g0211 others(3): Show a0001c0001t0002g0215 a0001c0001t0003g0019 a0001c0001t0005g0211 a0001c0001t0011g0126 a0002c0002t0003g0139 a0002c0002t0004g0111	6	324	0.0185	10	c.221 others(27): Show c.221+4450_221+4459dupAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17490143	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0168 a0001c0001t0009g0168	1	324	0.0031	10	c.222 others(27): Show c.222-7259_222-7258insGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0059 a0004c0004t0059	a0004c0004t0059g0191 a0004c0004t0059g0191	1	324	0.0031	10	c.110 others(27): Show c.1108+130_1108+139dupTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17525285	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02129.hp1 HG02615.hp1 others(3): Show HG01243.hp2 HG02129.hp1 HG02615.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0013t0001	a0001c0001t0001g0053 a0001c0001t0001g0239 a0001c0001t0006g0311 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0239 a0001c0001t0006g0311 a0001c0001t0009g0101 a0001c0001t0020g0051 a0001c0013t0001g0122	6	324	0.0185	10	c.110 others(29): Show c.1108+1014_1108+1015insAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18			chr22	TogoVar
CELA1_chr12_51323442_51351679	51338255	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02615.hp2 HG03195.hp1 HG01516.hp2 HG02615.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0212 a0002c0004t0002g0054 a0002c0004t0002g0087 a0001c0001t0002g0212 a0002c0004t0002g0054 a0002c0004t0002g0087	3	406	0.0074	10	c.609 others(27): Show c.609+1595_609+1604dupGTGTGTGTGT	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	6/7			chr12	TogoVar
CELA1_chr12_51323442_51351679	51347994	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01123.hp2 HG01175.hp2 others(8): Show HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01433.hp2 HG01516.hp1 HG01993.hp2 HG03490.hp1 HG03710.hp2 HG03927.hp2 NA18990.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0002 a0002c0007t0002 a0002c0004t0002 a0002c0007t0002	a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 others(7): Show a0002c0004t0002g0006 a0002c0004t0002g0008 a0002c0004t0002g0017 a0002c0004t0002g0021 a0002c0004t0002g0031 a0002c0004t0002g0033 a0002c0004t0002g0034 a0002c0004t0002g0079 a0002c0004t0002g0093 a0002c0007t0002g0078	11	406	0.0271	10	c.-13 others(21): Show c.-1357_-1356insTTTTTTTTTT	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding		1316		chr12	TogoVar
CELA1_chr12_51323442_51351679	51350961	T T	TCAGGGAT others(3): Show TCAGGGATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	406	0.0025	10	c.-43 others(21): Show c.-4324_-4323insCTCATCCCTG	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding		4283		chr12	TogoVar
CELA2A_chr1_15451732_15477091	15455132	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0099 a0005c0015t0001g0099	1	430	0.0023	10	c.-16 others(21): Show c.-1622_-1621insAAAAAAAAAA	CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding		1599		chr1	TogoVar
CELA2B_chr1_15471104_15496395	15478201	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18989.hp2 HG02486.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0002g0096 a0001c0001t0001g0171 a0001c0001t0002g0096	2	414	0.0048	10	c.129 others(27): Show c.129+1663_129+1672dupATATATATAT	CELA2B	ENSG00000215704.10	transcript	ENST00000375910.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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