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
ZSWIM9_chr19_48165680_48202620	48192470	A A	AGTATATA others(45): Show AGTATATATATATATATATATATATATATATGTATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	388	0.0026	52	c.589 others(69): Show c.589-2183_589-2182insGTATATATATATATATATATATATATAT ATGTATATATATATATATATATAT	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3			chr19	TogoVar
ZWILCH_chr15_66500326_66555130	66509835	A A	ATATATTT others(45): Show ATATATTTCATGAATGAGAAGCTGTAATATCTATAATTATGTGTGTGTGT GGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG02602.hp2 HG00639.hp1 HG01978.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361	3	410	0.0073	52	c.105 others(67): Show c.105+948_105+949insTTCATGAATGAGAAGCTGTAATATCTATAA TTATGTGTGTGTGTGGCTATAT	ZWILCH	ENSG00000174442.12	transcript	ENST00000307897.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZYG11B_chr1_52721453_52832336	52793868	T T	TTCCTTTC others(45): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	352	0.0028	52	c.133 others(71): Show c.1335-2423_1335-2422insCCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCT	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AATK_chr17_81112295_81171221	81139507	A A	ACCACACA others(46): Show ACCACACAAGCTGCACGGTGTCCCCCAGGCTCTTCCAAGCCCGGCCCTCT GCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0016 a0018 a0021 a0024 a0026 a0028 a0029 a0031 a0034 a0035 a0037	a0001c0001 a0001c0004 a0001c0011 others(36): Show a0001c0001 a0001c0004 a0001c0011 a0001c0040 a0001c0066 a0002c0002 a0002c0061 a0002c0073 a0002c0075 a0003c0003 a0003c0007 a0003c0009 a0003c0023 a0003c0024 a0003c0044 a0003c0045 a0003c0058 a0004c0005 a0004c0029 a0004c0035 a0005c0006 a0005c0021 a0006c0017 a0007c0008 a0010c0014 a0011c0018 a0012c0016 a0013c0015 a0016c0026 a0018c0072 a0021c0055 a0024c0052 a0026c0046 a0028c0051 a0029c0050 a0031c0049 a0034c0038 a0035c0063 a0037c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0004t0002 a0001c0004t0006 a0001c0011t0001 a0001c0040t0001 a0001c0066t0001 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0061t0001 a0002c0073t0007 a0002c0075t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0007t0001 a0003c0007t0019 a0003c0009t0001 a0003c0009t0005 a0003c0023t0001 a0003c0024t0001 a0003c0044t0002 a0003c0045t0002 a0003c0058t0002 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0005c0006t0003 a0005c0021t0001 a0006c0017t0002 a0007c0008t0001 a0010c0014t0001 a0011c0018t0001 a0012c0016t0001 a0013c0015t0008 a0016c0026t0001 a0018c0072t0001 a0021c0055t0001 a0024c0052t0001 a0026c0046t0002 a0028c0051t0001 a0029c0050t0001 a0031c0049t0001 a0034c0038t0001 a0035c0063t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(238): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0325 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0234 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0013g0216 a0001c0001t0022g0346 a0001c0004t0002g0012 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0074 a0001c0004t0002g0075 a0001c0004t0002g0083 a0001c0004t0002g0088 a0001c0004t0002g0105 a0001c0004t0002g0131 a0001c0004t0002g0141 a0001c0004t0002g0219 a0001c0004t0002g0264 a0001c0004t0002g0274 a0001c0004t0006g0104 a0001c0011t0001g0198 a0001c0011t0001g0249 a0001c0040t0001g0108 a0001c0066t0001g0188 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0327 a0002c0002t0006g0218 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0017g0097 a0002c0002t0018g0151 a0002c0061t0001g0044 a0002c0073t0007g0196 a0002c0075t0001g0344 a0003c0003t0001g0195 a0003c0003t0001g0240 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0054 a0003c0003t0002g0064 a0003c0003t0002g0081 a0003c0003t0002g0084 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0109 a0003c0003t0002g0112 a0003c0003t0002g0116 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0142 a0003c0003t0002g0152 a0003c0003t0002g0154 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0197 a0003c0003t0002g0220 a0003c0003t0002g0243 a0003c0003t0002g0260 a0003c0003t0002g0279 a0003c0003t0002g0299 a0003c0003t0002g0307 a0003c0003t0006g0060 a0003c0007t0001g0190 a0003c0007t0019g0321 a0003c0009t0001g0046 a0003c0009t0001g0062 a0003c0009t0001g0158 a0003c0009t0001g0326 a0003c0009t0005g0027 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0024t0001g0082 a0003c0024t0001g0191 a0003c0044t0002g0252 a0003c0045t0002g0156 a0003c0058t0002g0063 a0004c0005t0001g0015 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0077 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0122 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0253 a0004c0005t0001g0258 a0004c0005t0001g0317 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0005c0006t0003g0295 a0005c0021t0001g0206 a0005c0021t0001g0337 a0006c0017t0002g0094 a0006c0017t0002g0124 a0006c0017t0002g0126 a0007c0008t0001g0068 a0007c0008t0001g0091 a0007c0008t0001g0118 a0007c0008t0001g0130 a0007c0008t0001g0215 a0007c0008t0001g0227 a0010c0014t0001g0251 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0012c0016t0001g0168 a0012c0016t0001g0170 a0013c0015t0008g0001 a0016c0026t0001g0011 a0018c0072t0001g0322 a0021c0055t0001g0099 a0024c0052t0001g0165 a0026c0046t0002g0298 a0028c0051t0001g0029 a0029c0050t0001g0287 a0031c0049t0001g0067 a0034c0038t0001g0169 a0035c0063t0001g0111 a0037c0036t0001g0079	256	368	0.6957	53	c.56- others(68): Show c.56-5007_56-5006insCAGCAGAGGGCCGGGCTTGGAAGAGCCTGG GGGACACCGTGCAGCTTGTGTGG	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CCTCTCTC others(46): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTTTCTTTCTTTCTT TCTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0242 a0001c0003t0001g0242	1	249	0.0040	53	c.49- others(68): Show c.49-7980_49-7979insCTCTCTCTCTCTCTCTCTCTCTCTCTGTCT CTTTCTTTCTTTCTTTCTTTCTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABCC2_chr10_99777640_99857594	99838522	A A	ACCTCCCG others(46): Show ACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCAA CCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0007 a0013c0018t0001g0007	1	336	0.0030	53	c.361 others(72): Show c.3614+2238_3614+2239insGGACAGGGCGGCTGGCTGGGCGGGGG GGCTGACCCCCCCCCAACCTCCCTCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838522	A A	ACCTCCCG others(46): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG03486.hp1 others(1): Show HG01109.hp2 HG03471.hp2 HG03486.hp1 NA19060.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0014 a0021c0026 a0001c0001 a0001c0014 a0021c0026	a0001c0001t0008 a0001c0014t0001 a0021c0026t0006 a0001c0001t0008 a0001c0014t0001 a0021c0026t0006	a0001c0001t0008g0292 a0001c0014t0001g0021 a0001c0014t0001g0128 others(1): Show a0001c0001t0008g0292 a0001c0014t0001g0021 a0001c0014t0001g0128 a0021c0026t0006g0019	4	336	0.0119	53	c.361 others(72): Show c.3614+2238_3614+2239insGGACGGGGCGGCTGGCCGGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(46): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG01109.hp2 HG01496.hp1	a0001 a0021 a0001 a0021	a0001c0002 a0021c0026 a0001c0002 a0021c0026	a0001c0002t0006 a0021c0026t0006 a0001c0002t0006 a0021c0026t0006	a0001c0002t0006g0017 a0021c0026t0006g0019 a0001c0002t0006g0017 a0021c0026t0006g0019	2	336	0.0060	53	c.361 others(72): Show c.3614+2662_3614+2663insAGGGGGGCAGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(46): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 NA19068.hp1 HG02258.hp1 HG02886.hp2 NA19068.hp1	a0001 a0026 a0001 a0026	a0001c0002 a0026c0032 a0001c0002 a0026c0032	a0001c0002t0002 a0026c0032t0001 a0001c0002t0002 a0026c0032t0001	a0001c0002t0002g0037 a0001c0002t0002g0125 a0026c0032t0001g0127 a0001c0002t0002g0037 a0001c0002t0002g0125 a0026c0032t0001g0127	3	336	0.0089	53	c.361 others(72): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCG2_chr4_88085269_88163639	88160788	G G	GCAAAAAC others(46): Show GCAAAAACAGAACAAACCCAACATACCCCACCAAGAGACCCCCCCCCCAC CCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0006 a0003c0003t0003g0006	1	350	0.0029	53	c.-24 others(64): Show c.-2423_-2422insGGGGGTGGGGGGGGGGTCTCTTGGTGGGGTATGT TGGGTTTGTTCTGTTTTTG	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding		2150		chr4	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT TTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0155 a0001c0002t0007g0155	1	316	0.0032	53	c.422 others(68): Show c.422+943_422+944insAAAAATATATATATATATATATATATATAT ATATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATATATATTT TTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	316	0.0032	53	c.422 others(68): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATATATATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD2_chr15_89083456_89207355	89143721	A A	AGAGATGA others(46): Show AGAGATGAAAATAGAGATAGAGTAGAAGGAAATGGCCTCAAGTCAAAAGG GGAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	234	0.0043	53	c.195 others(70): Show c.195-7954_195-7902dupAGATGAAAATAGAGATAGAGTAGAAGGA AATGGCCTCAAGTCAAAAGGGGATG	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACACA_chr17_37079992_37411836	37390294	T T	TAATATAT others(46): Show TAATATATTATATATAATTATATATTATACATAATTTTATATATATATAT ATTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	299	0.0033	53	c.38+ others(70): Show c.38+15967_38+15968insTAATATATATATATATAAAATTATGTAT AATATATAATTATATATAATATATT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289433	C C	CCGTGTCT others(46): Show CCGTGTCTGCTCCGTCCCCCGTTGTCTGCTCCGTCCCCCGTGTCTCTGCC CCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	295	0.0034	53	c.41 others(64): Show c.4130_*4131insACGGGGCAGAGACACGGGGGACGGAGCAGACAAC GGGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2957		chr1	TogoVar
ACAT2_chr6_159757045_159784112	159770785	C C	CCAGGCAC others(46): Show CCAGGCACGGTAGCTCAGAACACAGAGAAAAATAATGAAGAATAAATGAA CAGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	404	0.0025	53	c.490 others(70): Show c.490+2173_490+2174insGAACACAGAGAAAAATAATGAAGAATAA ATGAACAGGCAGGCACGGTAGCTCA	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACCS_chr11_44061270_44089237	44074775	T T	TCTTTCTT others(46): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0215 a0003c0002t0002g0215	1	438	0.0023	53	c.489 others(66): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14			chr11	TogoVar
ACER3_chr11_76855918_77031797	76934661	A A	AGAGGGAG others(46): Show AGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGACGGGA GAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 NA18982.hp1 others(1): Show HG01175.hp1 HG01261.hp1 NA18982.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0069 others(1): Show a0001c0001t0004 a0001c0001t0031 a0001c0001t0069 a0001c0001t0072	a0001c0001t0004g0045 a0001c0001t0031g0048 a0001c0001t0069g0079 others(1): Show a0001c0001t0004g0045 a0001c0001t0031g0048 a0001c0001t0069g0079 a0001c0001t0072g0076	4	346	0.0116	53	c.214 others(70): Show c.214+8042_214+8094dupGAGAGGGAGGGAGACCGTGGAAAGAGAG GGAGAGGGAGACCGTGGGGAGACGG	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76934759	C C	CGGGAGAG others(46): Show CGGGAGAGGGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGG AGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(94): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03704.hp1 NA18942.hp2 NA18943.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(42): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0005t0154 a0001c0007t0064	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(94): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0068 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0008g0042 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0062 a0001c0001t0008g0084 a0001c0001t0008g0090 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0017g0198 a0001c0001t0018g0043 a0001c0001t0018g0049 a0001c0001t0018g0089 a0001c0001t0018g0094 a0001c0001t0022g0080 a0001c0001t0022g0081 a0001c0001t0022g0088 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0095 a0001c0001t0029g0202 a0001c0001t0029g0203 a0001c0001t0030g0015 a0001c0001t0030g0067 a0001c0001t0031g0040 a0001c0001t0032g0065 a0001c0001t0032g0066 a0001c0001t0033g0024 a0001c0001t0033g0061 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0035g0069 a0001c0001t0035g0070 a0001c0001t0036g0022 a0001c0001t0036g0044 a0001c0001t0038g0050 a0001c0001t0038g0093 a0001c0001t0062g0031 a0001c0001t0065g0082 a0001c0001t0066g0017 a0001c0001t0067g0059 a0001c0001t0068g0025 a0001c0001t0070g0201 a0001c0001t0073g0207 a0001c0001t0075g0200 a0001c0001t0076g0051 a0001c0001t0077g0052 a0001c0001t0078g0033 a0001c0001t0079g0041 a0001c0001t0080g0086 a0001c0001t0081g0018 a0001c0001t0082g0053 a0001c0001t0083g0054 a0001c0001t0084g0060 a0001c0001t0085g0035 a0001c0001t0086g0208 a0001c0001t0091g0075 a0001c0001t0092g0087 a0001c0001t0093g0083 a0001c0001t0127g0046 a0001c0001t0128g0072 a0001c0001t0129g0071 a0001c0005t0154g0204 a0001c0007t0064g0126	97	346	0.2804	53	c.214 others(70): Show c.214+8094_214+8095insGAGAGGGAGGGAGACCGTGGAAAGAGAG GGAGAGGGAGACCGTGGGGAGATGG	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACSBG1_chr15_78162468_78239565	78226793	T T	TATATATA others(46): Show TATATATAAATATATATATATATATATATAATATATATAATATATATATA TATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	350	0.0029	53	c.131 others(70): Show c.131+7577_131+7578insTATATATATATATATTATATATATTATA TATATATATATATATATTTATATAT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSF3_chr16_89088852_89161233	89112049	G G	GTGCCTGC others(46): Show GTGCCTGCTCATCTTCCCACCGAGTGCTTCCTTTCCTCCGCCGCCGTGGG TCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0012	a0001c0001 a0001c0005 a0001c0014 others(14): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0002c0003 a0003c0006 a0003c0007 a0003c0008 a0003c0010 a0004c0004 a0005c0009 a0005c0017 a0007c0013 a0008c0022 a0010c0019 a0011c0016 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0051 a0001c0001t0060 a0001c0001t0061 a0001c0005t0001 a0001c0005t0009 a0001c0005t0011 a0001c0014t0024 a0001c0018t0011 a0002c0003t0004 a0002c0003t0005 a0002c0003t0040 a0002c0003t0052 a0003c0006t0007 a0003c0006t0048 a0003c0006t0059 a0003c0007t0007 a0003c0008t0008 a0003c0008t0020 a0003c0008t0047 a0003c0008t0049 a0003c0010t0004 a0003c0010t0008 a0003c0010t0058 a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 a0004c0004t0031 a0004c0004t0037 a0004c0004t0038 a0005c0009t0034 a0005c0017t0035 a0007c0013t0001 a0008c0022t0007 a0010c0019t0020 a0011c0016t0002 a0012c0015t0009	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 others(253): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0196 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0010g0002 a0001c0001t0010g0166 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0173 a0001c0001t0010g0176 a0001c0001t0010g0177 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0010g0221 a0001c0001t0010g0222 a0001c0001t0012g0007 a0001c0001t0012g0008 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0033 a0001c0001t0012g0034 a0001c0001t0012g0272 a0001c0001t0013g0040 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0013g0105 a0001c0001t0013g0273 a0001c0001t0015g0100 a0001c0001t0016g0241 a0001c0001t0016g0242 a0001c0001t0017g0006 a0001c0001t0017g0251 a0001c0001t0018g0099 a0001c0001t0018g0102 a0001c0001t0023g0274 a0001c0001t0026g0006 a0001c0001t0027g0216 a0001c0001t0028g0101 a0001c0001t0029g0243 a0001c0001t0030g0357 a0001c0001t0032g0267 a0001c0001t0033g0271 a0001c0001t0036g0247 a0001c0001t0051g0303 a0001c0001t0060g0320 a0001c0001t0061g0260 a0001c0005t0001g0035 a0001c0005t0001g0036 a0001c0005t0001g0037 a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0005t0001g0248 a0001c0005t0001g0249 a0001c0005t0001g0300 a0001c0005t0001g0302 a0001c0005t0001g0330 a0001c0005t0001g0331 a0001c0005t0009g0199 a0001c0005t0009g0246 a0001c0005t0009g0250 a0001c0005t0009g0296 a0001c0005t0009g0297 a0001c0005t0009g0298 a0001c0005t0009g0308 a0001c0005t0009g0309 a0001c0005t0009g0327 a0001c0005t0009g0328 a0001c0005t0009g0353 a0001c0005t0011g0311 a0001c0005t0011g0312 a0001c0005t0011g0313 a0001c0005t0011g0314 a0001c0005t0011g0321 a0001c0005t0011g0322 a0001c0005t0011g0323 a0001c0005t0011g0326 a0001c0014t0024g0319 a0001c0018t0011g0261 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0004g0095 a0002c0003t0005g0026 a0002c0003t0040g0060 a0002c0003t0052g0240 a0003c0006t0007g0001 a0003c0006t0007g0017 a0003c0006t0007g0044 a0003c0006t0007g0050 a0003c0006t0007g0051 a0003c0006t0007g0053 a0003c0006t0007g0054 a0003c0006t0007g0055 a0003c0006t0007g0057 a0003c0006t0007g0067 a0003c0006t0007g0068 a0003c0006t0007g0069 a0003c0006t0007g0106 a0003c0006t0048g0056 a0003c0006t0059g0350 a0003c0007t0007g0045 a0003c0007t0007g0046 a0003c0007t0007g0047 a0003c0007t0007g0048 a0003c0007t0007g0049 a0003c0007t0007g0064 a0003c0007t0007g0092 a0003c0007t0007g0093 a0003c0007t0007g0094 a0003c0008t0008g0031 a0003c0008t0008g0058 a0003c0008t0008g0059 a0003c0008t0020g0245 a0003c0008t0047g0012 a0003c0008t0049g0052 a0003c0010t0004g0129 a0003c0010t0004g0130 a0003c0010t0008g0120 a0003c0010t0058g0154 a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 a0004c0004t0003g0223 a0004c0004t0003g0229 a0004c0004t0003g0230 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0304 a0004c0004t0003g0306 a0004c0004t0003g0307 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0339 a0004c0004t0003g0340 a0004c0004t0003g0341 a0004c0004t0003g0342 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0348 a0004c0004t0003g0349 a0004c0004t0022g0103 a0004c0004t0025g0338 a0004c0004t0031g0232 a0004c0004t0037g0013 a0004c0004t0038g0343 a0005c0009t0034g0360 a0005c0017t0035g0359 a0007c0013t0001g0280 a0007c0013t0001g0292 a0008c0022t0007g0063 a0010c0019t0020g0244 a0011c0016t0002g0163 a0012c0015t0009g0329	260	368	0.7065	53	c.823 others(66): Show c.823-27_823-26insCACCGAGTGCTTCCTTTCCTCCGCCGCCGTGG GTCTCTGCCTGCTCATCTTCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89147266	A A	AGGGAGGA others(46): Show AGGGAGGAGGGAGGGGTCACAGAGTGAGGGGGGGAGGGGCCACAGAGTGA GTGC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18977.hp2 NA18980.hp2 NA18942.hp2 NA18977.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0019 a0002c0002t0042 a0002c0002t0006 a0002c0002t0019 a0002c0002t0042	a0002c0002t0006g0150 a0002c0002t0019g0136 a0002c0002t0042g0152 a0002c0002t0006g0150 a0002c0002t0019g0136 a0002c0002t0042g0152	3	368	0.0082	53	c.161 others(72): Show c.1613+1232_1613+1233insTCACAGAGTGAGGGGGGGAGGGGCCA CAGAGTGAGTGCGGGAGGAGGGAGGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	364	0.0028	53	c.159 others(70): Show c.1593+781_1593+782insATATATATATATATATATATATATATAT ATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTRT3_chr3_169761921_169774561	169770455	T T	TATTATAT others(46): Show TATTATATGTATAAATATAAATATATAAAAATTTATATTTATATTTATTA TATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	53	c.-93 others(62): Show c.-936_-935insCATATAATAAATATAAATATAAATTTTTATATATTT ATATTTATACATATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		895		chr3	TogoVar
ACYP2_chr2_53966113_54310300	54096285	C C	CAGAGTGG others(46): Show CAGAGTGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCC GGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 NA19043.hp1 HG02615.hp1 HG02970.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111	3	272	0.0110	53	c.277 others(72): Show c.277+38929_277+38930insTGGCCGGGCAGAGACGCTCCTCACTT CCTAGATGGGATGGCGGCCGGGAAGAG	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(46): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0190 a0002c0007t0009g0190	1	408	0.0025	53	c.973 others(68): Show c.973-422_973-421insATATATATATATATATATATATATATATAT ATATATATATATATTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58655686	A A	ATATAGTA others(46): Show ATATAGTATATATATATACTATATATAGTATATATATATACTATATATAG TGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	342	0.0029	53	c.585 others(70): Show c.585+9410_585+9411insCACACTATATATAGTATATATATATACT ATATATAGTATATATATATACTATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0194 a0002c0002t0013g0194	1	230	0.0044	53	c.324 others(72): Show c.324-36161_324-36160insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM8_chr10_133257423_133281868	133260521	G G	GAGAGAGT others(46): Show GAGAGAGTCAGGTGTGCGCTGCAGAGCCGGGTGTGCACTGAGAACCAGGT GTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp1 others(4): Show HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp2 HG03209.hp1 NA18522.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0012 a0003c0004 a0003c0012	a0003c0004t0003 a0003c0012t0003 a0003c0004t0003 a0003c0012t0003	a0003c0004t0003g0047 a0003c0004t0003g0172 a0003c0004t0003g0173 others(1): Show a0003c0004t0003g0047 a0003c0004t0003g0172 a0003c0004t0003g0173 a0003c0012t0003g0022	7	386	0.0181	53	c.26 others(64): Show c.2634_*2635insGCACACCTGGTTCTCAGTGCACACCCGGCTCTGC AGCGCACACCTGACTCTCT	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		1901		chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179263076	C C	CCCATGAT others(46): Show CCCATGATTTGGGGAGCAGCATTATTCCCCCATGATTTGGGGAGCAGCAT TATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02647.hp1 HG01081.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0042 a0001c0001 a0002c0042	a0001c0001t0001 a0002c0042t0001 a0001c0001t0001 a0002c0042t0001	a0001c0001t0001g0011 a0002c0042t0001g0145 a0001c0001t0001g0011 a0002c0042t0001g0145	2	276	0.0073	53	c.688 others(70): Show c.688+9782_688+9834dupAATAATGCTGCTCCCCAAATCATGGGGG AATAATGCTGCTCCCCAAATCATGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179263104	C C	CCCATGAT others(46): Show CCCATGATTTGGGGAGCAGCATTATTCCCCCATGATTTGGGGAGCAGCAT TATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG01243.hp2 others(26): Show HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0010 a0013 a0015 a0020 a0028 a0032	a0001c0001 a0001c0004 a0001c0014 others(20): Show a0001c0001 a0001c0004 a0001c0014 a0001c0048 a0001c0049 a0001c0052 a0002c0012 a0002c0028 a0002c0043 a0002c0060 a0003c0003 a0003c0105 a0003c0107 a0004c0039 a0004c0110 a0004c0111 a0010c0036 a0013c0037 a0015c0086 a0015c0087 a0020c0113 a0028c0112 a0032c0045	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0004t0001 a0001c0014t0002 a0001c0014t0013 a0001c0048t0004 a0001c0049t0004 a0001c0052t0002 a0002c0012t0001 a0002c0012t0007 a0002c0012t0013 a0002c0028t0004 a0002c0043t0014 a0002c0060t0001 a0003c0003t0001 a0003c0105t0012 a0003c0107t0011 a0004c0039t0002 a0004c0110t0002 a0004c0111t0004 a0010c0036t0004 a0013c0037t0001 a0015c0086t0004 a0015c0087t0001 a0020c0113t0029 a0028c0112t0001 a0032c0045t0003	a0001c0001t0001g0067 a0001c0001t0004g0064 a0001c0001t0004g0122 others(26): Show a0001c0001t0001g0067 a0001c0001t0004g0064 a0001c0001t0004g0122 a0001c0001t0013g0021 a0001c0004t0001g0146 a0001c0014t0002g0073 a0001c0014t0013g0112 a0001c0048t0004g0195 a0001c0049t0004g0149 a0001c0052t0002g0148 a0002c0012t0001g0060 a0002c0012t0007g0120 a0002c0012t0013g0071 a0002c0028t0004g0119 a0002c0043t0014g0193 a0002c0060t0001g0091 a0003c0003t0001g0274 a0003c0105t0012g0209 a0003c0107t0011g0212 a0004c0039t0002g0204 a0004c0110t0002g0205 a0004c0111t0004g0211 a0010c0036t0004g0063 a0013c0037t0001g0048 a0015c0086t0004g0201 a0015c0087t0001g0200 a0020c0113t0029g0276 a0028c0112t0001g0206 a0032c0045t0003g0171	29	276	0.1051	53	c.688 others(70): Show c.688+9754_688+9806dupAATAATGCTGCTCCCCAAATCATGGGGG AATAATGCTGCTCCCCAAATCATGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72399849	G G	GGTGTGTA others(46): Show GGTGTGTACGCATATGTGTGTATATATATATACACACACGGTGTGTACGC ATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA20300.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0002g0019 a0001c0001t0005g0010 a0001c0001t0001g0073 a0001c0001t0002g0019 a0001c0001t0005g0010	3	182	0.0165	53	c.661 others(72): Show c.661+14965_661+14966insATATGCGTACACACCGTGTGTGTATA TATATATACACACATATGCGTACACAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72399849	G G	GGTGTGTA others(46): Show GGTGTGTACGCATATGTGTGTGTATATATATACACACACGGTGTGTACGC ATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	182	0.0055	53	c.661 others(72): Show c.661+14965_661+14966insATATGCGTACACACCGTGTGTGTATA TATATACACACACATATGCGTACACAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72529978	A A	ATATATAA others(46): Show ATATATAATATATTATATTTATATATATATAATATATTATATTTATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp2 NA19240.hp2 HG01891.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0152 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0001t0001g0152 a0001c0003t0001g0149 a0001c0003t0001g0150	3	182	0.0165	53	c.504 others(72): Show c.504+18499_504+18500insATATATATATAAATATAATATATTAT ATATATATAAATATAATATATTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0025 a0003c0011t0002g0025	1	140	0.0071	53	c.721 others(72): Show c.721-17421_721-17420insATATATATATATATATATATATATAT ATATATATATATATATATATATATATA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRE1_chr19_6882579_6945450	6882905	C C	CTTTTTTT others(46): Show CTTTTTTTTTTGTTTTTTTGTTTTTTGTTTTTTGTTTTTTTGTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 NA19030.hp2 HG02109.hp2 HG02145.hp1 NA19030.hp2	a0010 a0017 a0037 a0010 a0017 a0037	a0010c0012 a0017c0018 a0037c0061 a0010c0012 a0017c0018 a0037c0061	a0010c0012t0005 a0017c0018t0002 a0037c0061t0002 a0010c0012t0005 a0017c0018t0002 a0037c0061t0002	a0010c0012t0005g0295 a0017c0018t0002g0306 a0037c0061t0002g0297 a0010c0012t0005g0295 a0017c0018t0002g0306 a0037c0061t0002g0297	3	338	0.0089	53	c.-47 others(64): Show c.-4704_-4703insTTTTTTTTTTGTTTTTTTGTTTTTTGTTTTTTGT TTTTTTGTTTTTTTTTTTT	ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding		4673		chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14377696	T T	TAATTATA others(46): Show TAATTATATTATATAATTATTATACATAATAATTATATTATATAATTATT ATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0004c0029 a0007c0011	a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 a0001c0012t0011 a0004c0029t0007 a0007c0011t0001	a0001c0001t0001g0186 a0001c0004t0002g0167 a0001c0006t0001g0195 others(3): Show a0001c0001t0001g0186 a0001c0004t0002g0167 a0001c0006t0001g0195 a0001c0012t0011g0178 a0004c0029t0007g0133 a0007c0011t0001g0194	6	374	0.0160	53	c.-38 others(64): Show c.-3828_-3827insAATTATATTATATAATTATTATACATAATAATTA TATTATATAATTATTATAC	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding		3747		chr19	TogoVar
ADRA1D_chr20_4215630_4254287	4224714	T T	TGTTCCAT others(46): Show TGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGGGCCA GGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG02027.hp1 others(4): Show HG00438.hp2 HG00733.hp2 HG02027.hp1 HG04204.hp1 NA18945.hp1 NA18972.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0130 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0130 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0003t0002g0039 a0001c0003t0002g0070	7	452	0.0155	53	c.111 others(72): Show c.1112-2585_1112-2584insCCCCTGGCCCGCTTGGTCTCACAGGC ACCTGCAGCCTCTATCCAGGATGGAAC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0211 a0002c0002t0019g0211	1	268	0.0037	53	c.-10 others(70): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKR1D1_chr7_138071459_138123305	138118818	A A	AAGGGAGG others(46): Show AAGGGAGGGAGGGAGGGAGGGAGGGGAAAGAAAAAGGAAGGAAGGAAGGG AGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02630.hp1 others(7): Show HG01891.hp1 HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 others(7): Show a0001c0001t0011g0112 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0115 a0001c0001t0011g0119 a0001c0001t0011g0120 a0001c0001t0011g0220 a0001c0001t0016g0165 a0001c0001t0016g0175 a0001c0001t0016g0198	10	426	0.0235	53	c.21 others(64): Show c.2156_*2157insAGGGAGGGAGGGAGGGAGGGAGGGGAAAGAAAAA GGAAGGAAGGAAGGGAGGG	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		514		chr7	TogoVar
AMER2_chr13_25156679_25177288	25174798	C C	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCT TTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0040 a0001c0001t0016 a0001c0001t0040	a0001c0001t0016g0000 a0001c0001t0040g0000 a0001c0001t0016g0000 a0001c0001t0040g0000	2	416	0.0048	53	c.-31 others(64): Show c.-3180_-3179insAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2511		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174849	T T	TCCTTCCT others(46): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0000 a0001c0001t0081g0000	1	416	0.0024	53	c.-32 others(64): Show c.-3231_-3230insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2562		chr13	TogoVar
ANAPC7_chr12_110367900_110408708	110387421	G G	GAGACTGA others(46): Show GAGACTGAGAGTGAAGACAGAGAGAGAGAGAGAGAGGAGAGAGAGAGATG AGGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	298	0.0034	53	c.674 others(68): Show c.674+317_674+318insACCTCATCTCTCTCTCTCCTCTCTCTCTCT CTCTCTGTCTTCACTCTCAGTCT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	5/10			chr12	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAAAAT others(46): Show AAAAAAATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	392	0.0026	53	c.148 others(70): Show c.1483+514_1483+515insATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107370338	G G	GAAAGAAA others(46): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	292	0.0034	53	c.298 others(72): Show c.298-23242_298-23241insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	292	0.0034	53	c.298 others(72): Show c.298-23244_298-23243insCTTTCTTTCTTTCTTTCTTTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	292	0.0034	53	c.298 others(72): Show c.298-23244_298-23243insCTTTCTTTCTTTCTTTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	292	0.0034	53	c.298 others(72): Show c.298-23244_298-23243insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAG AAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0268 a0001c0001t0006g0268	1	292	0.0034	53	c.298 others(72): Show c.298-23244_298-23243insCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AAAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0104 a0001c0001t0008g0104	1	292	0.0034	53	c.298 others(72): Show c.298-23244_298-23243insCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCT	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar

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