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
MALRD1_chr10_19043801_19739478	19125318	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03209.hp1 others(2): Show HG02486.hp2 HG02615.hp1 HG03209.hp1 HG03486.hp2 NA18971.hp2	a0002 a0014 a0056 others(2): Show a0002 a0014 a0056 a0057 a0072	a0002c0028 a0014c0068 a0056c0070 others(2): Show a0002c0028 a0014c0068 a0056c0070 a0057c0075 a0072c0055	a0002c0028t0001 a0014c0068t0001 a0056c0070t0001 others(2): Show a0002c0028t0001 a0014c0068t0001 a0056c0070t0001 a0057c0075t0001 a0072c0055t0001	a0002c0028t0001g0101 a0014c0068t0001g0079 a0056c0070t0001g0149 others(2): Show a0002c0028t0001g0101 a0014c0068t0001g0079 a0056c0070t0001g0149 a0057c0075t0001g0080 a0072c0055t0001g0108	5	152	0.0329	-20	c.943 others(35): Show c.943+652_943+671delCTTCTTTCTTTCTTTCTTTC	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	7/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19341462	ATGTATAT others(13): Show ATGTATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0107 a0018c0017t0001g0107	1	152	0.0066	-20	c.390 others(39): Show c.3902-6299_3902-6280delGTATATATATGTGTATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	24/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19562297	GTAGATAG others(13): Show GTAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01192.hp2 others(9): Show HG00642.hp1 HG00642.hp2 HG01192.hp2 HG02280.hp1 HG02451.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp2	a0009 a0012 a0014 others(7): Show a0009 a0012 a0014 a0017 a0049 a0065 a0073 a0076 a0077 a0081	a0009c0040 a0009c0071 a0012c0041 others(9): Show a0009c0040 a0009c0071 a0012c0041 a0014c0116 a0017c0026 a0017c0072 a0049c0077 a0065c0109 a0073c0031 a0076c0085 a0077c0086 a0081c0084	a0009c0040t0002 a0009c0071t0001 a0012c0041t0004 others(9): Show a0009c0040t0002 a0009c0071t0001 a0012c0041t0004 a0014c0116t0002 a0017c0026t0001 a0017c0072t0002 a0049c0077t0001 a0065c0109t0002 a0073c0031t0001 a0076c0085t0001 a0077c0086t0002 a0081c0084t0001	a0009c0040t0002g0067 a0009c0071t0001g0001 a0012c0041t0004g0063 others(9): Show a0009c0040t0002g0067 a0009c0071t0001g0001 a0012c0041t0004g0063 a0014c0116t0002g0085 a0017c0026t0001g0055 a0017c0072t0002g0082 a0049c0077t0001g0140 a0065c0109t0002g0077 a0073c0031t0001g0136 a0076c0085t0001g0052 a0077c0086t0002g0074 a0081c0084t0001g0044	12	152	0.0790	-20	c.547 others(39): Show c.5479-5177_5479-5158delATAGATAGATAGATAGATAG	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19562325	ATAGATAG others(13): Show ATAGATAGATAGATAGATAGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18522.hp1 HG02717.hp1 NA18522.hp1	a0018 a0040 a0018 a0040	a0018c0017 a0040c0093 a0018c0017 a0040c0093	a0018c0017t0001 a0040c0093t0001 a0018c0017t0001 a0040c0093t0001	a0018c0017t0001g0107 a0040c0093t0001g0015 a0018c0017t0001g0107 a0040c0093t0001g0015	2	152	0.0132	-20	c.547 others(39): Show c.5479-5162_5479-5143delGATAGTTAGATAGATAGATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19655530	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18981.hp2 HG03669.hp1 NA18981.hp2	a0006 a0006	a0006c0004 a0006c0024 a0006c0004 a0006c0024	a0006c0004t0001 a0006c0024t0001 a0006c0004t0001 a0006c0024t0001	a0006c0004t0001g0035 a0006c0024t0001g0127 a0006c0004t0001g0035 a0006c0024t0001g0127	2	152	0.0132	-20	c.613 others(41): Show c.6138-36730_6138-36711delATATATATATATATATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19687908	TTAATGTT others(13): Show TTAATGTTATGTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0055 a0055	a0055c0074 a0055c0074	a0055c0074t0001 a0055c0074t0001	a0055c0074t0001g0139 a0055c0074t0001g0139	1	152	0.0066	-20	c.613 others(39): Show c.6138-4372_6138-4353delAATGTTATGTTATGTTATGT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19687910	AATGTTAT others(13): Show AATGTTATGTTATGTTATGTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01358.hp1 HG02602.hp2 others(10): Show HG00544.hp2 HG01358.hp1 HG02602.hp2 HG02622.hp1 HG03471.hp2 HG03486.hp1 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA18960.hp1 NA18965.hp1 NA19043.hp2 NA21309.hp1	a0002 a0011 a0021 others(9): Show a0002 a0011 a0021 a0026 a0028 a0031 a0037 a0059 a0062 a0073 a0078 a0097	a0002c0020 a0002c0039 a0011c0018 others(10): Show a0002c0020 a0002c0039 a0011c0018 a0021c0011 a0026c0062 a0028c0097 a0031c0122 a0037c0043 a0059c0064 a0062c0056 a0073c0031 a0078c0087 a0097c0102	a0002c0020t0001 a0002c0039t0001 a0011c0018t0001 others(10): Show a0002c0020t0001 a0002c0039t0001 a0011c0018t0001 a0021c0011t0002 a0026c0062t0001 a0028c0097t0001 a0031c0122t0001 a0037c0043t0002 a0059c0064t0001 a0062c0056t0002 a0073c0031t0001 a0078c0087t0003 a0097c0102t0001	a0002c0020t0001g0053 a0002c0039t0001g0134 a0011c0018t0001g0028 others(10): Show a0002c0020t0001g0053 a0002c0039t0001g0134 a0011c0018t0001g0028 a0021c0011t0002g0018 a0026c0062t0001g0111 a0028c0097t0001g0104 a0031c0122t0001g0024 a0037c0043t0002g0148 a0059c0064t0001g0152 a0062c0056t0002g0147 a0073c0031t0001g0136 a0078c0087t0003g0106 a0097c0102t0001g0098	13	152	0.0855	-20	c.613 others(39): Show c.6138-4319_6138-4300delGTTATGTTATGTTATGTTAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	36/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAL_chr2_95020708_95058992	95038138	TGATGAGT others(13): Show TGATGAGTGAGTGACTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	324	0.0031	-20	c.94- others(35): Show c.94-9800_94-9781delGATGAGTGAGTGACTGAGTG	MAL	ENSG00000172005.11	transcript	ENST00000309988.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAL_chr2_95020708_95058992	95042216	GGCATCGC others(13): Show GGCATCGCTGGAAGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	324	0.0031	-20	c.94- others(35): Show c.94-5741_94-5722delCATCGCTGGAAGGCAGGCAG	MAL	ENSG00000172005.11	transcript	ENST00000309988.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAMDC2_chr9_70038848_70231972	70118297	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0066 a0001c0001t0001g0269 a0001c0001t0001g0274	3	340	0.0088	-20	c.643 others(37): Show c.643+5197_643+5216delCACACACACACACACACACA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96148689	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0033 a0002c0003t0001 a0002c0003t0033	a0002c0003t0001g0186 a0002c0003t0033g0193 a0002c0003t0001g0186 a0002c0003t0033g0193	2	230	0.0087	-20	c.514 others(39): Show c.514-55192_514-55173delATGTGTGTGTGTGTGTGTGT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96153911	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(110): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02148.hp1 HG02300.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0016 a0020 a0021	a0001c0001 a0001c0002 a0001c0025 others(15): Show a0001c0001 a0001c0002 a0001c0025 a0001c0026 a0002c0003 a0002c0010 a0003c0004 a0003c0006 a0003c0020 a0004c0005 a0004c0008 a0005c0007 a0006c0009 a0007c0011 a0010c0014 a0016c0023 a0020c0028 a0021c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0028 a0001c0001t0034 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0032 a0001c0002t0035 a0001c0002t0042 a0001c0025t0002 a0001c0026t0001 a0002c0003t0008 a0002c0010t0004 a0003c0004t0006 a0003c0004t0010 a0003c0004t0017 a0003c0004t0046 a0003c0006t0006 a0003c0006t0010 a0003c0020t0026 a0004c0005t0004 a0004c0005t0007 a0004c0005t0048 a0004c0008t0001 a0005c0007t0005 a0006c0009t0023 a0007c0011t0003 a0007c0011t0008 a0010c0014t0006 a0010c0014t0010 a0016c0023t0006 a0020c0028t0014 a0021c0029t0001	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0140 others(110): Show a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0082 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0195 a0001c0001t0003g0209 a0001c0001t0003g0219 a0001c0001t0004g0171 a0001c0001t0007g0075 a0001c0001t0009g0063 a0001c0001t0009g0080 a0001c0001t0015g0191 a0001c0001t0016g0021 a0001c0001t0019g0091 a0001c0001t0028g0083 a0001c0001t0034g0153 a0001c0001t0047g0228 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0218 a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0037 a0001c0002t0002g0041 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0068 a0001c0002t0003g0115 a0001c0002t0003g0138 a0001c0002t0003g0146 a0001c0002t0003g0173 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0211 a0001c0002t0004g0198 a0001c0002t0005g0036 a0001c0002t0005g0042 a0001c0002t0005g0054 a0001c0002t0007g0028 a0001c0002t0008g0127 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0013g0010 a0001c0002t0013g0035 a0001c0002t0013g0045 a0001c0002t0014g0014 a0001c0002t0021g0226 a0001c0002t0021g0229 a0001c0002t0032g0087 a0001c0002t0035g0202 a0001c0002t0042g0120 a0001c0025t0002g0052 a0001c0026t0001g0109 a0002c0003t0008g0185 a0002c0010t0004g0174 a0002c0010t0004g0175 a0003c0004t0006g0113 a0003c0004t0006g0141 a0003c0004t0006g0212 a0003c0004t0010g0022 a0003c0004t0010g0023 a0003c0004t0010g0040 a0003c0004t0017g0067 a0003c0004t0046g0227 a0003c0006t0006g0099 a0003c0006t0006g0106 a0003c0006t0010g0008 a0003c0020t0026g0003 a0004c0005t0004g0156 a0004c0005t0004g0177 a0004c0005t0007g0015 a0004c0005t0007g0043 a0004c0005t0048g0230 a0004c0008t0001g0152 a0004c0008t0001g0205 a0005c0007t0005g0005 a0006c0009t0023g0048 a0007c0011t0003g0092 a0007c0011t0003g0093 a0007c0011t0008g0129 a0010c0014t0006g0166 a0010c0014t0010g0030 a0016c0023t0006g0206 a0020c0028t0014g0009 a0021c0029t0001g0164	113	230	0.4913	-20	c.514 others(39): Show c.514-60414_514-60395delTATTTATTTATTTATTTATT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01109.hp2 others(10): Show HG00642.hp2 HG00738.hp2 HG01109.hp2 HG01175.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02738.hp1 HG02818.hp1 HG03209.hp2 HG04184.hp2 NA19043.hp2 NA20752.hp2	a0001 a0006 a0013 others(2): Show a0001 a0006 a0013 a0017 a0019	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0006c0009 a0013c0024 a0017c0019 a0019c0022	a0001c0001t0001 a0001c0001t0039 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0039 a0001c0002t0002 a0001c0002t0005 a0001c0002t0020 a0001c0002t0043 a0001c0013t0003 a0006c0009t0023 a0013c0024t0009 a0017c0019t0001 a0019c0022t0038	a0001c0001t0001g0105 a0001c0001t0039g0179 a0001c0002t0002g0039 others(10): Show a0001c0001t0001g0105 a0001c0001t0039g0179 a0001c0002t0002g0039 a0001c0002t0002g0060 a0001c0002t0002g0079 a0001c0002t0005g0059 a0001c0002t0020g0107 a0001c0002t0043g0104 a0001c0013t0003g0139 a0006c0009t0023g0048 a0013c0024t0009g0065 a0017c0019t0001g0143 a0019c0022t0038g0144	13	230	0.0565	-20	c.514 others(39): Show c.514-62012_514-61993delATATATATATATATATATAT	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAML3_chr4_139711753_140159184	139731435	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01891.hp1 others(7): Show HG01070.hp1 HG01071.hp1 HG01891.hp1 HG02280.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0011 a0002c0018 others(2): Show a0001c0002 a0001c0011 a0002c0018 a0003c0005 a0007c0009	a0001c0002t0005 a0001c0002t0016 a0001c0011t0005 others(4): Show a0001c0002t0005 a0001c0002t0016 a0001c0011t0005 a0002c0018t0023 a0003c0005t0005 a0007c0009t0023 a0007c0009t0036	a0001c0002t0005g0015 a0001c0002t0005g0099 a0001c0002t0016g0006 others(7): Show a0001c0002t0005g0015 a0001c0002t0005g0099 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0011t0005g0019 a0002c0018t0023g0144 a0003c0005t0005g0087 a0003c0005t0005g0088 a0007c0009t0023g0141 a0007c0009t0036g0110	10	152	0.0658	-20	c.208 others(37): Show c.2080-788_2080-769delTTTTTTTTTTTTTTTTTTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139738068	CCCCACAG others(13): Show CCCCACAGGCCTGGGTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	152	0.0066	-20	c.208 others(39): Show c.2080-7421_2080-7402delTTTCTACCCAGGCCTGTGGG	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139798034	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG02055.hp2 HG00408.hp1 HG00735.hp2 HG02055.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0027 a0002c0003 a0007c0009 a0001c0027 a0002c0003 a0007c0009	a0001c0027t0001 a0002c0003t0001 a0007c0009t0014 a0001c0027t0001 a0002c0003t0001 a0007c0009t0014	a0001c0027t0001g0065 a0002c0003t0001g0074 a0007c0009t0014g0143 a0001c0027t0001g0065 a0002c0003t0001g0074 a0007c0009t0014g0143	3	152	0.0197	-20	c.208 others(41): Show c.2080-67387_2080-67368delTTCTTTCTTTCTTTCTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139894511	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0068 a0003c0005t0010g0068	1	152	0.0066	-20	c.469 others(37): Show c.469-3564_469-3545delCTTTCTTTCTTTCTTTCTTT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	139989866	CACACACA others(13): Show CACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	152	0.0066	-20	c.469 others(39): Show c.469-98919_469-98900delCTCTGTGTGTGTGTGTGTGT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140074199	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02976.hp2 HG03225.hp2 others(3): Show HG00280.hp2 HG02976.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG04199.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0004 a0001c0015 others(2): Show a0001c0001 a0001c0004 a0001c0015 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0015t0001 a0005c0007t0047 a0007c0009t0023 a0007c0009t0044	a0001c0001t0001g0109 a0001c0004t0001g0069 a0001c0015t0001g0051 others(3): Show a0001c0001t0001g0109 a0001c0004t0001g0069 a0001c0015t0001g0051 a0005c0007t0047g0152 a0007c0009t0023g0141 a0007c0009t0044g0140	6	152	0.0395	-20	c.468 others(39): Show c.468+78641_468+78660delTTCTTTCTTTCTTTCTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150481960	AGAAAAAA others(13): Show AGAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp1 HG01884.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0217 a0001c0001t0001g0020 a0001c0001t0001g0217	2	226	0.0089	-20	c.204 others(39): Show c.2040+8159_2040+8178delGAAAAAAGAAAGAAAGAAAG	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7			chrX	TogoVar
MAMLD1_chrX_150358317_150519173	150481964	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	226	0.0044	-20	c.204 others(39): Show c.2040+8213_2040+8232delAGAAAGAAAGAAAGAAAGAA	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMSTR_chr19_48707725_48724725	48707838	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18959.hp1 HG01975.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0083 a0001c0002t0002g0052 a0001c0002t0002g0083	2	386	0.0052	-20	c.54 others(31): Show c.5409_*5428delTTTCTTTCTTTCTTTCTTTC	MAMSTR	ENSG00000176909.12	transcript	ENST00000318083.11	protein_coding		4886		chr19	TogoVar
MAN1A1_chr6_119172205_119354761	119275277	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02071.hp2 HG03942.hp2 others(4): Show HG01258.hp2 HG02071.hp2 HG03942.hp2 NA18946.hp1 NA18950.hp2 NA18993.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0004t0005	a0001c0001t0001g0197 a0001c0001t0002g0299 a0001c0001t0005g0079 others(4): Show a0001c0001t0001g0197 a0001c0001t0002g0299 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0004t0005g0084	7	350	0.0200	-20	c.897 others(39): Show c.897+15386_897+15405delAAAAAAAAAAAAAAAAAAAA	MAN1A1	ENSG00000111885.7	transcript	ENST00000368468.4	protein_coding	5/12			chr6	TogoVar
MAN1A2_chr1_117362449_117533872	117434747	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02015.hp2 HG03239.hp1 others(1): Show HG00738.hp2 HG02015.hp2 HG03239.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0142 a0001c0001t0045 a0001c0001t0046 a0001c0001t0142	a0001c0001t0045g0064 a0001c0001t0046g0098 a0001c0001t0046g0099 others(1): Show a0001c0001t0045g0064 a0001c0001t0046g0098 a0001c0001t0046g0099 a0001c0001t0142g0097	4	370	0.0108	-20	c.856 others(37): Show c.856-7454_856-7435delGTGTGTGTGTGTGTGTGTGT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526864	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0019 a0001c0001t0097g0019	1	370	0.0027	-20	c.39 others(31): Show c.3909_*3928delCTCTCTCTCTCTCTCTATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3909	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117526866	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0020 a0001c0001t0098g0020	1	370	0.0027	-20	c.39 others(31): Show c.3911_*3930delCTCTCTCTCTCTCTATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	3911	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25719395	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02559.hp2 others(1): Show HG02055.hp2 HG02145.hp1 HG02559.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0018 a0001c0002t0001g0156 a0001c0002t0001g0196 others(1): Show a0001c0001t0001g0018 a0001c0002t0001g0156 a0001c0002t0001g0196 a0001c0005t0001g0249	4	250	0.0160	-20	c.638 others(39): Show c.638-27242_638-27223delTATTTATTTATTTATTTATT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MANBA_chr4_102625770_102765968	102653220	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0004 a0001c0004t0023g0004	1	280	0.0036	-20	c.170 others(39): Show c.1705-2539_1705-2520delTGTGTGTGTGTGTGTGTGTG	MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	12/16			chr4	TogoVar
MANSC1_chr12_12321056_12355242	12344916	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0077 a0001c0002t0035g0077	1	322	0.0031	-20	c.-10 others(39): Show c.-100-1522_-100-1503delATATATATATATATATATAT	MANSC1	ENSG00000111261.14	transcript	ENST00000535902.6	protein_coding	1/3			chr12	TogoVar
MANSC4_chr12_27757427_27785236	27758367	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	406	0.0025	-20	c.43 others(31): Show c.4351_*4370delCAAAAAAAAAAAAAAAAAAA	MANSC4	ENSG00000205693.4	transcript	ENST00000381273.4	protein_coding		4059		chr12	TogoVar
MAOA_chrX_43651299_43751817	43654463	GCCCCGCC others(13): Show GCCCCGCCCCTCCCCGCTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0155 a0001c0003t0002g0155	1	283	0.0035	-20	c.-18 others(31): Show c.-1878_-1859delCCCCGCCCCTCCCCGCTCCT	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding		1835		chrX	TogoVar
MAOA_chrX_43651299_43751817	43654520	TCCTCCCC others(13): Show TCCTCCCCGCCCCTCCCCGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	283	0.0035	-20	c.-18 others(31): Show c.-1821_-1802delCCTCCCCGCCCCTCCCCGCC	MAOA	ENSG00000189221.11	transcript	ENST00000338702.4	protein_coding		1778		chrX	TogoVar
MAOB_chrX_43761610_43887450	43857108	TATATATA others(13): Show TATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	234	0.0043	-20	c.47- others(37): Show c.47-13364_47-13345delCTCTCTCTCTCTATATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857110	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0159 a0001c0001t0001g0164	2	234	0.0086	-20	c.47- others(37): Show c.47-13366_47-13347delCTCTCTCTCTCTCTATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857112	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01175.hp1 others(2): Show HG00099.hp1 HG01099.hp1 HG01175.hp1 HG02818.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0126 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0158	5	234	0.0214	-20	c.47- others(37): Show c.47-13368_47-13349delCTCTCTCTCTCTCTCTATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAOB_chrX_43761610_43887450	43857114	TATAGAGA others(13): Show TATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	234	0.0043	-20	c.47- others(37): Show c.47-13370_47-13351delCTCTCTCTCTCTCTCTCTAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAP1B_chr5_72102475_72214565	72160660	ATAGGCAA others(13): Show ATAGGCAACATCAAAGAAGAC	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	342	0.0029	-20	c.287 others(39): Show c.287-23080_287-23061delGGCAACATCAAAGAAGACTA	MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116560188	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(83): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0002c0002t0005 a0002c0002t0007 a0004c0007t0003	a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 others(61): Show a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0002g0016 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0133 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0004g0136 a0001c0001t0004g0148 a0001c0001t0007g0124 a0001c0001t0007g0134 a0001c0001t0007g0384 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0009g0110 a0001c0001t0009g0125 a0001c0001t0011g0005 a0001c0001t0011g0128 a0001c0001t0013g0117 a0002c0002t0005g0154 a0002c0002t0005g0155 a0002c0002t0007g0135 a0004c0007t0003g0003	86	446	0.1928	-20	c.-10 others(37): Show c.-102+789_-102+808delATATATATATATATATATAT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116566930	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp2 NA18906.hp2 HG01891.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0294 a0001c0001t0007g0026 a0001c0001t0005g0294 a0001c0001t0007g0026	3	446	0.0067	-20	c.-10 others(39): Show c.-102+7519_-102+7538delAAAAAAAAAAAAAAAAAAAA	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116571458	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp2 HG03486.hp2 others(1): Show HG01243.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0124 a0001c0001t0007g0134 a0001c0001t0010g0009 a0001c0001t0007g0124 a0001c0001t0007g0134 a0001c0001t0010g0009	4	446	0.0090	-20	c.-10 others(39): Show c.-101-4363_-101-4344delTTTTTTTTTTTTTTTTTTTT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAP1LC3B_chr16_87387336_87409774	87400131	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp2 HG02615.hp2 others(1): Show HG00673.hp1 HG02109.hp2 HG02615.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0170 a0001c0001t0010g0020 a0001c0001t0001g0170 a0001c0001t0010g0020	4	420	0.0095	-20	c.96+ others(35): Show c.96+1284_96+1303delGTGTGTGTGTGTGTGTGTGT	MAP1LC3B	ENSG00000140941.14	transcript	ENST00000268607.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAP1S_chr19_17714480_17739513	17718235	TAAAAGAA others(13): Show TAAAAGAAAAGAAAAGAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01981.hp1 others(5): Show HG01175.hp2 HG01496.hp2 HG01981.hp1 HG02809.hp1 HG03688.hp2 HG04228.hp1 NA18991.hp2 NA18994.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0010 a0003c0003 others(2): Show a0001c0001 a0001c0010 a0003c0003 a0005c0009 a0005c0015	a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0010t0001 a0003c0003t0001 a0005c0009t0001 a0005c0015t0001	a0001c0001t0001g0074 a0001c0010t0001g0017 a0003c0003t0001g0003 others(2): Show a0001c0001t0001g0074 a0001c0010t0001g0017 a0003c0003t0001g0003 a0005c0009t0001g0077 a0005c0015t0001g0017	8	290	0.0276	-20	c.-12 others(31): Show c.-1267_-1248delAAAAGAAAAGAAAAGAAAAG	MAP1S	ENSG00000130479.11	transcript	ENST00000324096.9	protein_coding		1244		chr19	TogoVar
MAP2K4_chr17_12015877_12148828	12019294	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	322	0.0031	-20	c.-15 others(31): Show c.-1592_-1573delTGTGTGTGTGTGTGTGTGTG	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding		1582		chr17	TogoVar
MAP2K4_chr17_12015877_12148828	12069890	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00733.hp1 others(16): Show HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG01081.hp2 HG01243.hp1 HG02027.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03654.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA18946.hp2 NA18969.hp1 NA19010.hp2 NA19070.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0002t0003	a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0272 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0287 a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0080 a0001c0001t0004g0165 a0001c0001t0006g0095 a0001c0001t0013g0005 a0001c0002t0003g0052 a0001c0002t0003g0085	19	322	0.0590	-20	c.219 others(39): Show c.219-11423_219-11404delATATATATATATATATATAT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K4_chr17_12015877_12148828	12076279	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	322	0.0031	-20	c.219 others(37): Show c.219-5049_219-5030delGTGTGTGTGTGTGTGTGTGT	MAP2K4	ENSG00000065559.15	transcript	ENST00000353533.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP2K5_chr15_67537703_67812114	67739448	ATATATAT others(13): Show ATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	278	0.0036	-20	c.107 others(39): Show c.1075-8781_1075-8762delATATATATATATATTTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739454	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	278	0.0036	-20	c.107 others(39): Show c.1075-8775_1075-8756delATATATATTTTTTTTTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739460	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18522.hp2 NA19081.hp1 HG03688.hp2 NA18522.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0157 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0157	3	278	0.0108	-20	c.107 others(39): Show c.1075-8769_1075-8750delATTTTTTTTTTTTTTTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67739462	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01981.hp2 others(3): Show HG01070.hp2 HG01081.hp2 HG01981.hp2 HG02698.hp1 HG03098.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0191 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0002g0094	6	278	0.0216	-20	c.107 others(39): Show c.1075-8752_1075-8733delTTTTTTTTTTTTTTTTTTTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K6_chr17_69409697_69558865	69449541	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0225 a0001c0002t0004g0225	1	260	0.0039	-20	c.16+ others(37): Show c.16+34561_16+34580delATTTCTTTCTTTCTTTCTTT	MAP2K6	ENSG00000108984.16	transcript	ENST00000590474.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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