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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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
LAIR2_chr19_54497831_54515687	54514555	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp2 HG02135.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0001g0005 a0001c0001t0003g0005	2	475	0.0042	-21	c.39 others(32): Show c.3987_*4007delTTTTTTTTTTTTTTTTTTTTT	LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding		3869		chr19	TogoVar
LAMA1_chr18_6936742_7122797	7062265	TAGTCAGG others(14): Show TAGTCAGGGAAGTCTTCCCTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02280.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18994.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19067.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0005 a0006 a0008 a0014 a0015 a0016 a0017 a0022 a0027 a0031 a0032 a0041 a0047 a0049 a0056 a0057 a0058 a0066 a0067 a0069 a0070 a0078 a0084 a0086 a0087 a0088 a0090 a0091 a0093 a0094 a0096 a0098 a0102 a0110 a0121	a0001c0001 a0001c0002 a0001c0004 others(59): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0030 a0001c0071 a0001c0089 a0001c0119 a0001c0165 a0001c0170 a0001c0171 a0002c0003 a0002c0007 a0002c0059 a0002c0079 a0002c0090 a0002c0146 a0003c0114 a0003c0162 a0005c0006 a0005c0017 a0005c0081 a0005c0110 a0006c0008 a0006c0183 a0006c0205 a0008c0013 a0008c0086 a0008c0155 a0014c0018 a0014c0116 a0015c0094 a0016c0191 a0017c0026 a0022c0099 a0027c0072 a0031c0025 a0032c0009 a0041c0208 a0047c0058 a0049c0123 a0056c0117 a0057c0097 a0058c0158 a0066c0075 a0067c0104 a0069c0077 a0070c0111 a0078c0093 a0084c0095 a0086c0060 a0087c0190 a0088c0200 a0090c0177 a0091c0182 a0093c0185 a0094c0187 a0096c0193 a0098c0194 a0102c0052 a0110c0043 a0121c0049	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0010t0002 a0001c0030t0002 a0001c0071t0002 a0001c0089t0002 a0001c0119t0001 a0001c0165t0001 a0001c0170t0002 a0001c0171t0002 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0007t0002 a0002c0059t0002 a0002c0079t0001 a0002c0090t0002 a0002c0146t0002 a0003c0114t0002 a0003c0162t0002 a0005c0006t0001 a0005c0017t0001 a0005c0081t0001 a0005c0110t0001 a0006c0008t0002 a0006c0183t0002 a0006c0205t0002 a0008c0013t0001 a0008c0086t0001 a0008c0155t0001 a0014c0018t0001 a0014c0116t0002 a0015c0094t0001 a0016c0191t0001 a0017c0026t0002 a0022c0099t0002 a0027c0072t0002 a0031c0025t0002 a0032c0009t0001 a0041c0208t0003 a0047c0058t0002 a0049c0123t0002 a0056c0117t0001 a0057c0097t0002 a0058c0158t0001 a0066c0075t0001 a0067c0104t0001 a0069c0077t0001 a0070c0111t0002 a0078c0093t0002 a0084c0095t0001 a0086c0060t0002 a0087c0190t0001 a0088c0200t0001 a0090c0177t0001 a0091c0182t0001 a0093c0185t0001 a0094c0187t0002 a0096c0193t0001 a0098c0194t0002 a0102c0052t0002 a0110c0043t0002 a0121c0049t0001	a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0163 others(82): Show a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0002g0094 a0001c0001t0002g0106 a0001c0002t0001g0144 a0001c0002t0001g0198 a0001c0002t0001g0217 a0001c0002t0001g0229 a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0002t0002g0047 a0001c0002t0002g0058 a0001c0002t0002g0076 a0001c0002t0002g0109 a0001c0004t0002g0004 a0001c0004t0002g0070 a0001c0010t0002g0088 a0001c0010t0002g0098 a0001c0030t0002g0031 a0001c0071t0002g0079 a0001c0089t0002g0055 a0001c0119t0001g0186 a0001c0165t0001g0137 a0001c0170t0002g0111 a0001c0171t0002g0110 a0002c0003t0001g0135 a0002c0003t0001g0143 a0002c0003t0001g0154 a0002c0003t0002g0105 a0002c0007t0001g0196 a0002c0007t0001g0197 a0002c0007t0002g0099 a0002c0059t0002g0062 a0002c0079t0001g0152 a0002c0090t0002g0021 a0002c0146t0002g0102 a0003c0114t0002g0086 a0003c0162t0002g0069 a0005c0006t0001g0157 a0005c0017t0001g0153 a0005c0081t0001g0150 a0005c0110t0001g0156 a0006c0008t0002g0092 a0006c0183t0002g0096 a0006c0205t0002g0089 a0008c0013t0001g0159 a0008c0013t0001g0233 a0008c0086t0001g0223 a0008c0155t0001g0134 a0014c0018t0001g0138 a0014c0116t0002g0108 a0015c0094t0001g0151 a0016c0191t0001g0231 a0017c0026t0002g0048 a0022c0099t0002g0080 a0027c0072t0002g0040 a0031c0025t0002g0035 a0031c0025t0002g0104 a0032c0009t0001g0184 a0041c0208t0003g0126 a0047c0058t0002g0030 a0049c0123t0002g0006 a0056c0117t0001g0218 a0057c0097t0002g0087 a0058c0158t0001g0164 a0066c0075t0001g0160 a0067c0104t0001g0175 a0069c0077t0001g0220 a0070c0111t0002g0044 a0078c0093t0002g0049 a0084c0095t0001g0162 a0086c0060t0002g0074 a0087c0190t0001g0139 a0088c0200t0001g0251 a0090c0177t0001g0226 a0091c0182t0001g0133 a0093c0185t0001g0214 a0094c0187t0002g0072 a0096c0193t0001g0216 a0098c0194t0002g0043 a0102c0052t0002g0118 a0110c0043t0002g0114 a0121c0049t0001g0206	85	278	0.3058	-21	c.346 others(40): Show c.346-11350_346-11330delTCAGGGAAGACTTCCCTGACT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	3/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	128968788	GGTAGGAC others(14): Show GGTAGGACCTTGTACTGTGTAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG03098.hp1 others(6): Show HG02257.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 NA18906.hp1 NA19043.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0011 a0015 a0022 a0034	a0002c0003 a0003c0002 a0004c0051 others(5): Show a0002c0003 a0003c0002 a0004c0051 a0006c0007 a0011c0028 a0015c0010 a0022c0019 a0034c0055	a0002c0003t0005 a0003c0002t0001 a0004c0051t0001 others(5): Show a0002c0003t0005 a0003c0002t0001 a0004c0051t0001 a0006c0007t0002 a0011c0028t0003 a0015c0010t0003 a0022c0019t0002 a0034c0055t0002	a0002c0003t0005g0010 a0003c0002t0001g0065 a0004c0051t0001g0008 others(6): Show a0002c0003t0005g0010 a0003c0002t0001g0065 a0004c0051t0001g0008 a0006c0007t0002g0009 a0006c0007t0002g0081 a0011c0028t0003g0011 a0015c0010t0003g0082 a0022c0019t0002g0012 a0034c0055t0002g0030	9	88	0.1023	-21	c.113 others(40): Show c.113-81115_113-81095delTGTGTACGTAGGACCTTGTAC	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23695796	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02572.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG02572.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0002 a0003c0014 a0012c0017 a0001c0002 a0003c0014 a0012c0017	a0001c0002t0001 a0003c0014t0002 a0012c0017t0001 a0001c0002t0001 a0003c0014t0002 a0012c0017t0001	a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 others(3): Show a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 a0003c0014t0002g0241 a0003c0014t0002g0244 a0012c0017t0001g0121	6	280	0.0214	-21	c.294 others(38): Show c.294+5839_294+5859delAAAAAAAAAAAAAAAAAAAAA	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	1/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62318297	AGGGGGGG others(14): Show AGGGGGGGAAGAAGAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02615.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp1	a0087 a0088 a0090 others(1): Show a0087 a0088 a0090 a0093	a0087c0031 a0088c0032 a0090c0066 others(1): Show a0087c0031 a0088c0032 a0090c0066 a0093c0024	a0087c0031t0001 a0088c0032t0001 a0090c0066t0001 others(1): Show a0087c0031t0001 a0088c0032t0001 a0090c0066t0001 a0093c0024t0001	a0087c0031t0001g0179 a0088c0032t0001g0178 a0090c0066t0001g0019 others(1): Show a0087c0031t0001g0179 a0088c0032t0001g0178 a0090c0066t0001g0019 a0093c0024t0001g0007	4	186	0.0215	-21	c.723 others(38): Show c.7239+136_7239+156delCTCCTCCTCTTCTTCCCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62323235	GGGCCTGA others(14): Show GGGCCTGATCGCTGGGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02897.hp1 HG01256.hp1 HG02897.hp1	a0002 a0047 a0002 a0047	a0002c0003 a0047c0124 a0002c0003 a0047c0124	a0002c0003t0001 a0047c0124t0001 a0002c0003t0001 a0047c0124t0001	a0002c0003t0001g0132 a0047c0124t0001g0083 a0002c0003t0001g0132 a0047c0124t0001g0083	2	186	0.0108	-21	c.606 others(38): Show c.6064+200_6064+220delTCCCGCCCCAGCGATCAGGCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	45/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62337169	CGCGATAC others(14): Show CGCGATACGCGCACCCACTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(30): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02897.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA18971.hp2 NA19010.hp2 NA19043.hp1 NA21309.hp1	a0000 a0001 a0002 others(19): Show a0000 a0001 a0002 a0012 a0016 a0018 a0019 a0020 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0057 a0058 a0059 a0085 a0092	a0000c0113 a0000c0120 a0001c0007 others(24): Show a0000c0113 a0000c0120 a0001c0007 a0002c0012 a0002c0081 a0002c0125 a0012c0021 a0016c0047 a0018c0115 a0018c0116 a0019c0022 a0020c0051 a0020c0053 a0047c0124 a0048c0046 a0049c0121 a0050c0114 a0051c0117 a0052c0118 a0053c0119 a0054c0045 a0055c0133 a0057c0052 a0058c0122 a0059c0123 a0085c0056 a0092c0023	a0000c0113t0001 a0000c0120t0001 a0001c0007t0001 others(24): Show a0000c0113t0001 a0000c0120t0001 a0001c0007t0001 a0002c0012t0001 a0002c0081t0001 a0002c0125t0001 a0012c0021t0001 a0016c0047t0001 a0018c0115t0001 a0018c0116t0001 a0019c0022t0001 a0020c0051t0001 a0020c0053t0001 a0047c0124t0001 a0048c0046t0001 a0049c0121t0006 a0050c0114t0005 a0051c0117t0001 a0052c0118t0001 a0053c0119t0001 a0054c0045t0001 a0055c0133t0001 a0057c0052t0001 a0058c0122t0001 a0059c0123t0001 a0085c0056t0001 a0092c0023t0001	a0000c0113t0001g0078 a0000c0120t0001g0077 a0001c0007t0001g0085 others(30): Show a0000c0113t0001g0078 a0000c0120t0001g0077 a0001c0007t0001g0085 a0001c0007t0001g0145 a0001c0007t0001g0149 a0002c0012t0001g0015 a0002c0012t0001g0075 a0002c0012t0001g0164 a0002c0081t0001g0087 a0002c0125t0001g0027 a0012c0021t0001g0073 a0012c0021t0001g0082 a0016c0047t0001g0086 a0018c0115t0001g0081 a0018c0116t0001g0070 a0019c0022t0001g0155 a0019c0022t0001g0156 a0020c0051t0001g0062 a0020c0053t0001g0063 a0047c0124t0001g0083 a0048c0046t0001g0091 a0049c0121t0006g0076 a0050c0114t0005g0079 a0051c0117t0001g0072 a0052c0118t0001g0074 a0053c0119t0001g0071 a0054c0045t0001g0024 a0055c0133t0001g0057 a0057c0052t0001g0017 a0058c0122t0001g0080 a0059c0123t0001g0025 a0085c0056t0001g0035 a0092c0023t0001g0009	33	186	0.1774	-21	c.216 others(38): Show c.2164+400_2165-384delATAAGTGGGTGCGCGTATCGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	16/79			chr20	TogoVar
LAMP1_chr13_113292239_113328672	113301637	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	354	0.0028	-21	c.61+ others(36): Show c.61+4144_61+4164delAAAAAAATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301639	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02258.hp1 others(6): Show HG00639.hp1 HG01109.hp1 HG02258.hp1 HG02886.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 NA18944.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0004 a0001c0001t0001 a0001c0001t0003 a0004c0004t0004	a0001c0001t0001g0219 a0001c0001t0003g0004 a0001c0001t0003g0063 others(5): Show a0001c0001t0001g0219 a0001c0001t0003g0004 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0004c0004t0004g0045 a0004c0004t0004g0049 a0004c0004t0004g0050	9	354	0.0254	-21	c.61+ others(36): Show c.61+4146_61+4166delAAAAATATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301641	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02451.hp1 others(4): Show HG01243.hp2 HG02280.hp2 HG02451.hp1 HG02818.hp1 HG02965.hp2 HG03195.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0004 a0001c0001t0013 a0004c0004t0004 a0001c0001t0004 a0001c0001t0013 a0004c0004t0004	a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 others(4): Show a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0013g0058 a0004c0004t0004g0047 a0004c0004t0004g0053 a0004c0004t0004g0054	7	354	0.0198	-21	c.61+ others(36): Show c.61+4148_61+4168delAAATATATATATATATATATA	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149561	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG03225.hp1 HG02258.hp2 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0257 a0001c0001t0009g0010 a0001c0001t0007g0257 a0001c0001t0009g0010	3	372	0.0081	-21	c.888 others(38): Show c.888+2793_888+2813delATATATATTTTTTTTTTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149567	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	372	0.0027	-21	c.888 others(38): Show c.888+2787_888+2807delATATATATATATATTTTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149573	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0321	1	372	0.0027	-21	c.888 others(38): Show c.888+2781_888+2801delATATATATATATATATATATT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LARGE1_chr22_33267509_33925476	33508043	TTCCCTTT others(14): Show TTCCCTTTGATAATGTGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	110	0.0091	-21	c.787 others(40): Show c.787+56784_787+56804delGGGAGCACATTATCAAAGGGA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33556509	AGGAAGGA others(14): Show AGGAAGGAAGGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0075 a0001c0001t0014g0075	1	110	0.0091	-21	c.787 others(38): Show c.787+8318_787+8338delCTCCCTCCCTCCCTTCCTTCC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33747982	GCTGTGTG others(14): Show GCTGTGTGCCAGAAATGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03471.hp1 HG01496.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0004 a0001c0001t0006 a0001c0006t0004	a0001c0001t0006g0065 a0001c0006t0004g0064 a0001c0001t0006g0065 a0001c0006t0004g0064	2	110	0.0182	-21	c.106 others(40): Show c.106+13368_106+13388delTGCCCCATTTCTGGCACACAG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE2_chr11_45917656_45934096	45923985	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	418	0.0024	-21	c.369 others(36): Show c.369-151_369-131delAAAAAAAAAAAAAAAAAAAAA	LARGE2	ENSG00000165905.18	transcript	ENST00000401752.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
LARP1B_chr4_128056312_128216988	128073572	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0098 a0002c0012t0005g0098	1	336	0.0030	-21	c.-77 others(36): Show c.-77-871_-77-851delTTTTTTTTTTTTTTTTTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4B_chr10_804497_936705	869904	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	288	0.0035	-21	c.142 others(38): Show c.142-5655_142-5635delATTATTATTATTATTATTATT	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	3/17			chr10	TogoVar
LARP4_chr12_50395885_50485004	50422781	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03471.hp1 HG02109.hp1 HG02647.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275	3	318	0.0094	-21	c.19- others(36): Show c.19-4949_19-4929delATTATTATTATTATTATTATT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LAT2_chr7_74205006_74234834	74232621	CTTTGGGA others(14): Show CTTTGGGAGGTCAAGGCAGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	344	0.0029	-21	c.36 others(32): Show c.3697_*3717delTTTGGGAGGTCAAGGCAGGTG	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding		2788		chr7	TogoVar
LATS1_chr6_149653153_149723101	149706183	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA21309.hp2 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0042 a0001c0002t0003g0043	2	272	0.0074	-21	c.-14 others(40): Show c.-140-3938_-140-3918delTTTTTTTTTTTTTTTTTTTTT	LATS1	ENSG00000131023.13	transcript	ENST00000543571.6	protein_coding	1/7			chr6	TogoVar
LATS2_chr13_20968036_21066586	20969694	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0300 a0003c0003t0004g0300	1	316	0.0032	-21	c.51 others(32): Show c.5155_*5175delATATATATATATATATATTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3341		chr13	TogoVar
LATS2_chr13_20968036_21066586	20969696	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 NA18971.hp2 HG03486.hp2 NA18971.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0007 a0003c0003t0004 a0002c0002t0007 a0003c0003t0004	a0002c0002t0007g0141 a0003c0003t0004g0301 a0002c0002t0007g0141 a0003c0003t0004g0301	2	316	0.0063	-21	c.51 others(32): Show c.5153_*5173delATATATATATATATATATATT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3339		chr13	TogoVar
LATS2_chr13_20968036_21066586	20969698	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG00735.hp1 others(34): Show HG00423.hp2 HG00642.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp2 HG02280.hp1 HG02300.hp2 HG02572.hp1 HG02683.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA18946.hp1 NA18959.hp1 NA18971.hp1 NA18982.hp1 NA19070.hp2 NA19081.hp1 NA19084.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0001c0010 a0002c0002 others(5): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003 a0004c0004 a0005c0012 a0006c0011 a0010c0018	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(10): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0034 a0001c0010t0001 a0002c0002t0010 a0003c0003t0001 a0003c0003t0017 a0004c0004t0001 a0005c0012t0001 a0006c0011t0001 a0010c0018t0010	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 others(34): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0010g0163 a0001c0001t0013g0189 a0001c0001t0013g0206 a0001c0001t0017g0131 a0001c0001t0034g0216 a0001c0010t0001g0074 a0002c0002t0010g0118 a0003c0003t0001g0236 a0003c0003t0017g0132 a0004c0004t0001g0302 a0004c0004t0001g0303 a0005c0012t0001g0033 a0006c0011t0001g0081 a0006c0011t0001g0085 a0010c0018t0010g0065	37	316	0.1171	-21	c.51 others(32): Show c.5151_*5171delATATATATATATATATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3337		chr13	TogoVar
LATS2_chr13_20968036_21066586	21019298	GTTATTAT others(14): Show GTTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0010 a0010c0018t0010	a0010c0018t0010g0065 a0010c0018t0010g0066 a0010c0018t0010g0065 a0010c0018t0010g0066	2	316	0.0063	-21	c.342 others(40): Show c.342+26366_342+26386delTAATAATAATAATAATAATAA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203769442	AAGGAAAG others(14): Show AAGGAAAGAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02293.hp2 HG01167.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0003 a0001c0001t0024	a0001c0001t0003g0247 a0001c0001t0024g0294 a0001c0001t0003g0247 a0001c0001t0024g0294	2	422	0.0047	-21	c.90- others(36): Show c.90-1384_90-1364delGGAAAGAAAGAAAAGAAAAGA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAYN_chr11_111535720_111566745	111564655	CACACACA others(14): Show CACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03942.hp1 NA18985.hp1 HG01496.hp2 HG03942.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0105 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0105	3	298	0.0101	-21	c.41 others(32): Show c.4198_*4218delACACACACACACACACACACA	LAYN	ENSG00000204381.12	transcript	ENST00000375614.7	protein_coding		2911		chr11	TogoVar
LBP_chr20_38341482_38382013	38365706	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0049 a0005c0006t0001g0049	1	394	0.0025	-21	c.921 others(36): Show c.921+956_921+976delAAAAAAAAAAATATATATATA	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
LCOR_chr10_96827298_97000956	96891530	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0084 a0001c0004t0084	a0001c0004t0084g0025 a0001c0004t0084g0025	1	288	0.0035	-21	c.-32 others(42): Show c.-329-15721_-329-15701delTTTTTTTTTTTTTTTTTTTTT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDB1_chr10_102101489_102125368	102106541	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp1 NA19065.hp2 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0058 a0001c0001t0039 a0001c0001t0058	a0001c0001t0039g0059 a0001c0001t0058g0108 a0001c0001t0039g0059 a0001c0001t0058g0108	2	376	0.0053	-21	c.15 others(32): Show c.1531_*1551delTTTTTTTTTTTTTTTTTTTTT	LDB1	ENSG00000198728.11	transcript	ENST00000673968.1	protein_coding	11/11	1531		chr10	TogoVar
LDB2_chr4_16496541_16903645	16570462	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG03098.hp1 others(4): Show HG02615.hp1 HG02818.hp2 HG03098.hp1 HG03139.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0147 a0001c0001t0001g0148 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0003g0028 a0001c0002t0001g0156 a0001c0005t0001g0021	7	162	0.0432	-21	c.615 others(40): Show c.615+15439_615+15459delTTTTTTTTTTTTTTTTTTTTT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16581991	GGGAAGGA others(14): Show GGGAAGGAAGGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	162	0.0062	-21	c.615 others(38): Show c.615+3910_615+3930delTTCCTTCCTTCCCTTCCTTCC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDHAL6B_chr15_59201843_59213588	59213136	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	448	0.0022	-21	c.50 others(32): Show c.5051_*5071delTTATTATTATTATTATTATTA	LDHAL6B	ENSG00000171989.6	transcript	ENST00000307144.6	protein_coding		4549		chr15	TogoVar
LDLRAD4_chr18_13213760_13657751	13446895	GCCTCGGG others(14): Show GCCTCGGGGGCCTTCTGGCATT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp1 HG03704.hp1 others(10): Show HG00558.hp2 HG01192.hp1 HG03704.hp1 NA18939.hp2 NA18945.hp2 NA18959.hp2 NA18964.hp1 NA18980.hp1 NA18984.hp1 NA18998.hp2 NA19004.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0038 a0001c0001t0041 a0001c0001t0065	a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0167 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0002g0008 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0094 a0001c0001t0038g0012 a0001c0001t0041g0029 a0001c0001t0065g0113	13	178	0.0730	-21	c.181 others(38): Show c.181+8513_181+8533delCTCGGGGGCCTTCTGGCATTC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610265	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG02896.hp1 HG01884.hp1 HG02809.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0108 a0001c0001t0008g0174 a0001c0001t0008g0053 a0001c0001t0008g0108 a0001c0001t0008g0174	3	178	0.0169	-21	c.182 others(40): Show c.182-10832_182-10812delTTTTTTTTTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13610285	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	178	0.0056	-21	c.182 others(40): Show c.182-10831_182-10811delTTTTTTTTTTTTTTTTTTTTG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LDLR_chr19_11084463_11138820	11101449	TTGTTTTT others(14): Show TTGTTTTTTTCTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0135 a0001c0003t0025g0135	1	358	0.0028	-21	c.190 others(38): Show c.190+1106_190+1126delGTTTTTTTCTTTTTCTTTTCT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEFTY1_chr1_225881282_225894146	225888338	AGGCTGCA others(14): Show AGGCTGCAGGAGGATTCAGGCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	454	0.0022	-21	c.251 others(36): Show c.251-327_251-307delGGCCTGAATCCTCCTGCAGCC	LEFTY1	ENSG00000243709.1	transcript	ENST00000272134.5	protein_coding	1/3			chr1	TogoVar
LEMD2_chr6_33766213_33794130	33787226	TAAAGCAT others(14): Show TAAAGCATCTCAGCAGTGAGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp1 HG01884.hp1 others(14): Show HG00280.hp1 HG01070.hp1 HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0028 a0001c0001t0003g0043 a0001c0001t0003g0006 a0001c0001t0003g0028 a0001c0001t0003g0043	17	400	0.0425	-21	c.737 others(36): Show c.737-473_737-453delTACTCACTGCTGAGATGCTTT	LEMD2	ENSG00000161904.13	transcript	ENST00000293760.10	protein_coding	1/8			chr6	TogoVar
LEP_chr7_128236278_128262629	128258713	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18993.hp2 HG03017.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0051 a0001c0002t0005g0006 a0001c0002t0005g0051	2	395	0.0051	-21	c.39 others(32): Show c.3951_*3971delTTTCTTTCTTTCTTTCTTTCT	LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding		1085		chr7	TogoVar
LEXM_chr1_54801063_54847252	54814412	AAGCAGGC others(14): Show AAGCAGGCCCTCTGGGGGTCTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0221 a0001c0003t0003g0221	1	382	0.0026	-21	c.924 others(36): Show c.924+447_924+467delTCTGGGGGTCTGAGCAGGCCC	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS12_chr11_63501084_63521772	63501881	CTCAAACT others(14): Show CTCAAACTCCTGACCTCAAGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	434	0.0023	-21	c.-45 others(32): Show c.-4577_-4557delTCAAACTCCTGACCTCAAGTG	LGALS12	ENSG00000133317.16	transcript	ENST00000394618.9	protein_coding		4202		chr11	TogoVar
LGALS2_chr22_37565248_37585087	37568401	CCAGCGCC others(14): Show CCAGCGCCTGCTGCAAACCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(155): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0220 a0002c0002t0001g0045	158	460	0.3435	-21	c.18 others(32): Show c.1841_*1861delAGGGGTTTGCAGCAGGCGCTG	LGALS2	ENSG00000100079.7	transcript	ENST00000215886.6	protein_coding		1846		chr22	TogoVar
LGALS2_chr22_37565248_37585087	37568406	GCCTGCTG others(14): Show GCCTGCTGCAAACCCCTCAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19011.hp2 NA19082.hp1 NA18975.hp1 NA19011.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	3	460	0.0065	-21	c.18 others(32): Show c.1836_*1856delTGCTGAGGGGTTTGCAGCAGG	LGALS2	ENSG00000100079.7	transcript	ENST00000215886.6	protein_coding		1841		chr22	TogoVar
LGALS9C_chr17_18471789_18499945	18487801	GGGCCCAG others(14): Show GGGCCCAGCGTAGCTGTGCTTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG02922.hp2 others(1): Show HG00741.hp1 HG02451.hp2 HG02922.hp2 HG03130.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0084 a0004c0004t0001g0127 a0004c0004t0001g0128 others(1): Show a0004c0004t0001g0084 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129	4	291	0.0138	-21	c.444 others(34): Show c.444+53_444+73delGTAGCTGTGCTTAGGCCCAGC	LGALS9C	ENSG00000171916.17	transcript	ENST00000328114.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
LGI1_chr10_93752936_93803159	93767344	CCTGAAAG others(14): Show CCTGAAAGAAGAGTTCTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	376	0.0027	-21	c.287 others(38): Show c.287+8515_287+8535delTGAAAGAAGAGTTCTGTGCTC	LGI1	ENSG00000108231.14	transcript	ENST00000371418.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LGMN_chr14_92698809_92753627	92719239	ACCACCGC others(14): Show ACCACCGCCACCACCACCACCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0389 a0001c0001t0001g0389	1	420	0.0024	-21	c.139 others(36): Show c.139-416_139-396delCGGTGGTGGTGGTGGCGGTGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719248	ACCACCAC others(14): Show ACCACCACCACCGCCACCGCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01358.hp2 others(31): Show HG00438.hp1 HG00621.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG02056.hp1 HG02080.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG04228.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18973.hp1 NA18998.hp2 NA19001.hp1 NA19010.hp1 NA19057.hp1 NA19063.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0003 others(1): Show a0001c0001 a0001c0014 a0002c0003 a0002c0015	a0001c0001t0001 a0001c0001t0005 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0014t0001 a0002c0003t0005 a0002c0015t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0140 others(31): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0360 a0001c0001t0001g0375 a0001c0001t0001g0379 a0001c0001t0001g0397 a0001c0001t0001g0407 a0001c0001t0001g0411 a0001c0001t0005g0114 a0001c0014t0001g0026 a0002c0003t0005g0032 a0002c0015t0003g0033	34	420	0.0810	-21	c.139 others(36): Show c.139-425_139-405delCGGCGGTGGCGGTGGTGGTGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LGMN_chr14_92698809_92753627	92719251	ACCACCAC others(14): Show ACCACCACCGCCACCGCCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02145.hp1 NA18965.hp1 others(1): Show HG02074.hp2 HG02145.hp1 NA18965.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0060 a0001c0001t0001g0316 a0002c0003t0001g0052 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0316 a0002c0003t0001g0052 a0002c0003t0001g0414	4	420	0.0095	-21	c.139 others(36): Show c.139-428_139-408delCGGCGGCGGTGGCGGTGGTGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar

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