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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HUS1B_chr6_650939_662100	658647	A A	ATATATAT others(101): Show ATATATATATATATATATATATATATATTTTATATATATATATATATATA TATATATATTTTATATATATATATATATTTTATATATATATATATATATA TATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	108	c.-17 others(119): Show c.-1704_-1703insAAATATATATATATATATATATATATATAAAATA TATATATATATATAAAATATATATATATATATATATATATATATAAAATA TATATATATATATATATATATATA		HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding					1548		chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33323291	T T	TATATATA others(101): Show TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGTATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	323	0.0031	108	c.-17 others(119): Show c.-1765_-1764insATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGTATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1678		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980218	A A	AGAAGGAA others(101): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0308	1	310	0.0032	108	c.149 others(127): Show c.149+10826_149+10827insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160071206	A A	ACCCAGGA others(101): Show ACCCAGGAGGCTGGGAGGGAAGGGTGGGGGTGTGTCGAGGCCCCTGTGCC CAGGGCCCAGGAGGCTGGGAGGGAAGGGTGGGGGTGTGTCGAGGCCCCTG TGCCCAGGG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0185 a0004c0029t0003g0185	1	310	0.0032	108	c.444 others(125): Show c.4444-701_4444-594dupCAGGAGGCTGGGAGGGAAGGGTGGGGGT GTGTCGAGGCCCCTGTGCCCAGGGCCCAGGAGGCTGGGAGGGAAGGGTGG GGGTGTGTCGAGGCCCCTGTGCCCAGGGCC		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GGCAGGTT others(101): Show GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGA GTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCA GTGAATGAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(63): Show a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0014 a0015 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0029 a0030 a0034 a0035 a0036 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0049 a0050 a0051 a0053 a0054 a0055 a0056 a0072 a0075 a0078 a0081 a0083 a0084 a0085 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0095 a0096 a0097 a0098 a0099 a0100 a0106 a0108 a0110 a0111 a0112 a0113 a0114 a0115	a0002c0002 a0002c0003 a0002c0112 others(95): Show a0002c0002 a0002c0003 a0002c0112 a0002c0113 a0003c0005 a0003c0011 a0003c0021 a0003c0036 a0004c0012 a0004c0016 a0004c0024 a0004c0028 a0004c0050 a0004c0118 a0006c0007 a0006c0018 a0006c0048 a0006c0049 a0008c0008 a0008c0058 a0009c0010 a0009c0039 a0010c0009 a0010c0082 a0011c0053 a0011c0059 a0011c0061 a0011c0135 a0011c0156 a0014c0023 a0014c0035 a0014c0103 a0015c0019 a0015c0083 a0018c0025 a0019c0032 a0019c0147 a0020c0029 a0021c0027 a0024c0037 a0024c0114 a0025c0031 a0026c0130 a0026c0150 a0026c0151 a0029c0040 a0030c0047 a0034c0073 a0034c0075 a0035c0074 a0035c0107 a0036c0046 a0038c0033 a0039c0038 a0040c0060 a0041c0136 a0041c0162 a0042c0057 a0043c0131 a0043c0132 a0044c0052 a0045c0062 a0046c0063 a0049c0120 a0050c0080 a0051c0081 a0053c0121 a0054c0122 a0055c0123 a0056c0124 a0072c0106 a0075c0105 a0078c0087 a0081c0109 a0083c0116 a0084c0115 a0085c0078 a0087c0110 a0088c0077 a0089c0084 a0090c0126 a0091c0127 a0092c0085 a0093c0064 a0095c0161 a0096c0155 a0097c0157 a0098c0160 a0099c0158 a0100c0159 a0106c0149 a0108c0148 a0110c0133 a0111c0134 a0112c0152 a0113c0129 a0114c0164 a0115c0165	a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 others(114): Show a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0112t0003 a0002c0113t0003 a0003c0005t0002 a0003c0005t0003 a0003c0005t0004 a0003c0005t0007 a0003c0005t0008 a0003c0005t0010 a0003c0005t0014 a0003c0011t0004 a0003c0021t0004 a0003c0021t0013 a0003c0036t0002 a0004c0012t0002 a0004c0012t0010 a0004c0016t0002 a0004c0016t0004 a0004c0024t0002 a0004c0028t0002 a0004c0050t0002 a0004c0118t0008 a0006c0007t0001 a0006c0007t0005 a0006c0007t0012 a0006c0018t0001 a0006c0048t0001 a0006c0048t0003 a0006c0049t0001 a0008c0008t0003 a0008c0008t0005 a0008c0008t0006 a0008c0058t0001 a0009c0010t0003 a0009c0039t0003 a0010c0009t0002 a0010c0082t0002 a0011c0053t0007 a0011c0059t0002 a0011c0061t0002 a0011c0135t0007 a0011c0156t0002 a0014c0023t0001 a0014c0023t0005 a0014c0035t0001 a0014c0103t0005 a0015c0019t0003 a0015c0083t0003 a0018c0025t0003 a0019c0032t0001 a0019c0147t0001 a0020c0029t0002 a0021c0027t0002 a0024c0037t0002 a0024c0114t0002 a0025c0031t0006 a0026c0130t0007 a0026c0150t0004 a0026c0151t0002 a0029c0040t0003 a0030c0047t0002 a0034c0073t0004 a0034c0075t0004 a0035c0074t0002 a0035c0107t0002 a0036c0046t0001 a0038c0033t0001 a0039c0038t0003 a0040c0060t0002 a0041c0136t0006 a0041c0162t0003 a0042c0057t0001 a0043c0131t0006 a0043c0132t0006 a0044c0052t0005 a0044c0052t0006 a0045c0062t0005 a0046c0063t0002 a0049c0120t0002 a0050c0080t0002 a0051c0081t0002 a0053c0121t0002 a0054c0122t0004 a0055c0123t0003 a0056c0124t0003 a0072c0106t0002 a0075c0105t0002 a0078c0087t0001 a0081c0109t0001 a0083c0116t0003 a0084c0115t0003 a0085c0078t0001 a0087c0110t0003 a0088c0077t0003 a0089c0084t0001 a0090c0126t0004 a0091c0127t0008 a0092c0085t0001 a0093c0064t0003 a0095c0161t0001 a0096c0155t0002 a0097c0157t0001 a0098c0160t0001 a0099c0158t0003 a0100c0159t0001 a0106c0149t0002 a0108c0148t0001 a0110c0133t0006 a0111c0134t0004 a0112c0152t0001 a0113c0129t0005 a0114c0164t0001 a0115c0165t0007	a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0232 others(212): Show a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0274 a0002c0002t0003g0014 a0002c0002t0003g0016 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0222 a0002c0002t0003g0223 a0002c0002t0003g0228 a0002c0002t0003g0234 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0257 a0002c0002t0003g0325 a0002c0003t0001g0043 a0002c0003t0001g0107 a0002c0003t0001g0143 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0195 a0002c0003t0003g0053 a0002c0003t0003g0063 a0002c0003t0003g0105 a0002c0003t0003g0127 a0002c0003t0003g0153 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0003g0184 a0002c0003t0003g0187 a0002c0003t0003g0188 a0002c0003t0003g0205 a0002c0003t0006g0267 a0002c0112t0003g0124 a0002c0113t0003g0138 a0003c0005t0002g0134 a0003c0005t0002g0147 a0003c0005t0002g0178 a0003c0005t0002g0179 a0003c0005t0003g0189 a0003c0005t0004g0318 a0003c0005t0007g0271 a0003c0005t0007g0323 a0003c0005t0008g0004 a0003c0005t0010g0140 a0003c0005t0014g0095 a0003c0011t0004g0034 a0003c0011t0004g0079 a0003c0011t0004g0114 a0003c0011t0004g0123 a0003c0011t0004g0135 a0003c0011t0004g0207 a0003c0011t0004g0208 a0003c0021t0004g0006 a0003c0021t0013g0006 a0003c0036t0002g0253 a0003c0036t0002g0264 a0004c0012t0002g0030 a0004c0012t0002g0066 a0004c0012t0002g0070 a0004c0012t0002g0071 a0004c0012t0002g0133 a0004c0012t0002g0148 a0004c0012t0002g0164 a0004c0012t0010g0132 a0004c0016t0002g0003 a0004c0016t0002g0240 a0004c0016t0004g0246 a0004c0024t0002g0023 a0004c0024t0002g0073 a0004c0024t0002g0074 a0004c0028t0002g0040 a0004c0028t0002g0196 a0004c0050t0002g0030 a0004c0050t0002g0100 a0004c0118t0008g0268 a0006c0007t0001g0013 a0006c0007t0001g0052 a0006c0007t0001g0212 a0006c0007t0001g0213 a0006c0007t0001g0235 a0006c0007t0001g0241 a0006c0007t0005g0269 a0006c0007t0012g0061 a0006c0018t0001g0011 a0006c0018t0001g0141 a0006c0018t0001g0182 a0006c0048t0001g0201 a0006c0048t0003g0072 a0006c0049t0001g0167 a0006c0049t0001g0176 a0008c0008t0003g0038 a0008c0008t0003g0150 a0008c0008t0005g0025 a0008c0008t0005g0083 a0008c0008t0005g0084 a0008c0008t0006g0089 a0008c0008t0006g0090 a0008c0008t0006g0092 a0008c0008t0006g0324 a0008c0058t0001g0279 a0008c0058t0001g0309 a0009c0010t0003g0008 a0009c0010t0003g0069 a0009c0010t0003g0102 a0009c0010t0003g0104 a0009c0010t0003g0108 a0009c0010t0003g0117 a0009c0010t0003g0186 a0009c0010t0003g0193 a0009c0039t0003g0217 a0009c0039t0003g0226 a0010c0009t0002g0017 a0010c0009t0002g0035 a0010c0009t0002g0042 a0010c0009t0002g0181 a0010c0009t0002g0202 a0010c0009t0002g0266 a0010c0082t0002g0320 a0011c0053t0007g0087 a0011c0053t0007g0321 a0011c0059t0002g0057 a0011c0061t0002g0305 a0011c0061t0002g0311 a0011c0135t0007g0077 a0011c0156t0002g0302 a0014c0023t0001g0103 a0014c0023t0001g0128 a0014c0023t0005g0018 a0014c0035t0001g0249 a0014c0035t0001g0263 a0014c0103t0005g0018 a0015c0019t0003g0012 a0015c0019t0003g0036 a0015c0083t0003g0238 a0018c0025t0003g0041 a0018c0025t0003g0161 a0018c0025t0003g0169 a0019c0032t0001g0277 a0019c0032t0001g0280 a0019c0032t0001g0307 a0019c0147t0001g0054 a0020c0029t0002g0031 a0020c0029t0002g0120 a0021c0027t0002g0032 a0021c0027t0002g0121 a0024c0037t0002g0231 a0024c0037t0002g0265 a0024c0114t0002g0172 a0025c0031t0006g0026 a0025c0031t0006g0085 a0026c0130t0007g0088 a0026c0150t0004g0299 a0026c0151t0002g0298 a0029c0040t0003g0049 a0030c0047t0002g0101 a0030c0047t0002g0126 a0034c0073t0004g0254 a0034c0075t0004g0252 a0035c0074t0002g0096 a0035c0107t0002g0177 a0036c0046t0001g0064 a0036c0046t0001g0065 a0038c0033t0001g0047 a0039c0038t0003g0221 a0039c0038t0003g0273 a0040c0060t0002g0285 a0040c0060t0002g0312 a0041c0136t0006g0094 a0041c0162t0003g0284 a0042c0057t0001g0116 a0042c0057t0001g0314 a0043c0131t0006g0086 a0043c0132t0006g0028 a0044c0052t0005g0027 a0044c0052t0006g0091 a0045c0062t0005g0029 a0046c0063t0002g0256 a0049c0120t0002g0160 a0050c0080t0002g0003 a0051c0081t0002g0304 a0053c0121t0002g0106 a0054c0122t0004g0098 a0055c0123t0003g0185 a0056c0124t0003g0198 a0072c0106t0002g0199 a0075c0105t0002g0076 a0078c0087t0001g0317 a0081c0109t0001g0125 a0083c0116t0003g0204 a0084c0115t0003g0152 a0085c0078t0001g0233 a0087c0110t0003g0151 a0088c0077t0003g0258 a0089c0084t0001g0239 a0090c0126t0004g0115 a0091c0127t0008g0270 a0092c0085t0001g0203 a0093c0064t0003g0225 a0095c0161t0001g0276 a0096c0155t0002g0118 a0097c0157t0001g0300 a0098c0160t0001g0058 a0099c0158t0003g0308 a0100c0159t0001g0058 a0106c0149t0002g0119 a0108c0148t0001g0281 a0110c0133t0006g0028 a0111c0134t0004g0319 a0112c0152t0001g0278 a0113c0129t0005g0027 a0114c0164t0001g0054 a0115c0165t0007g0099	261	428	0.6098	108	c.494 others(117): Show c.4943_4944insGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTT AGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGG ATTTGGGGGCTCCTAAGGGAAT	p.Gly others(123): Show p.Gly1647_Ile1648insMetGlySerGlySerLysAlaSerPheArg AspGlyLeuGlyGlySerGlyGluMetGlySerValAsnGluAlaGlyTy rArgLysAspLeuGlyAlaProLysGly	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5075/11811	4944/11127	1648/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201209822	G G	GGCTCCTA others(101): Show GGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTT TAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAG GATTTGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01993.hp1 HG02630.hp1 HG02723.hp1 others(6): Show HG01993.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp2 NA20300.hp1	a0012 a0037 a0012 a0037	a0012c0014 a0037c0045 a0012c0014 a0037c0045	a0012c0014t0004 a0012c0014t0009 a0037c0045t0002 others(1): Show a0012c0014t0004 a0012c0014t0009 a0037c0045t0002 a0037c0045t0004	a0012c0014t0004g0112 a0012c0014t0004g0113 a0012c0014t0004g0155 others(5): Show a0012c0014t0004g0112 a0012c0014t0004g0113 a0012c0014t0004g0155 a0012c0014t0009g0024 a0012c0014t0009g0078 a0012c0014t0009g0154 a0037c0045t0002g0110 a0037c0045t0004g0111	9	428	0.0210	108	c.494 others(117): Show c.4943_4944insGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTT AGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGG ATTTGGGTGCTCCTAAGGGAAT	p.Gly others(123): Show p.Gly1647_Ile1648insMetGlySerGlySerLysAlaSerPheArg AspGlyLeuGlyGlySerGlyGluMetGlySerValAsnGluAlaGlyTy rArgLysAspLeuGlyAlaProLysGly	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5075/11811	4944/11127	1648/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(101): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18972.hp1 HG00639.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0002 a0001c0001t0042 a0002c0002t0002	a0001c0001t0042g0154 a0002c0002t0002g0302 a0001c0001t0042g0154 a0002c0002t0002g0302	2	440	0.0046	108	c.103 others(125): Show c.103-1338_103-1231dupGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14						chr22	TogoVar
ILRUN_chr6_34582288_34701767	34686896	C C	CAGTGAGC others(101): Show CAGTGAGCCGAGATCATTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCCAAAAAAAAAAAAAAAAAAAAGAAAGGCAAGAATTCTCTG TATGCCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(120): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(120): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0281 a0001c0001t0007g0293 a0001c0001t0014g0136 a0001c0001t0018g0266 a0001c0001t0019g0115 a0001c0001t0020g0139 a0001c0001t0022g0141 a0001c0001t0023g0268 a0001c0001t0027g0104 a0001c0001t0028g0177	123	316	0.3892	108	c.158 others(125): Show c.158+9549_158+9550insCTGGGCATACAGAGAATTCTTGCCTTTC TTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGAATGATCTCGGCTCACT		ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4						chr6	TogoVar
INPP5A_chr10_132532787_132788480	132634266	A A	AGGTGTGC others(101): Show AGGTGTGCCCCGGAGAGGCGTATCATCTCCCTTGGTGGGTGTGCCCCGGA GAGGCGTATCATCTCCCTTGGCAGGTGTGCCCCGGAGAGGCGTATCATCT CCCTTGGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0014	1	204	0.0049	108	c.118 others(127): Show c.118-11532_118-11531insCAGGTGTGCCCCGGAGAGGCGTATCA TCTCCCTTGGTGGGTGTGCCCCGGAGAGGCGTATCATCTCCCTTGGTGGG TGTGCCCCGGAGAGGCGTATCATCTCCCTTGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772675	G G	GCCCCACG others(101): Show GCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCACGGC AGCCGCCCCACGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCA CAGCAGCCA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	204	0.0049	108	c.978 others(125): Show c.978-4924_978-4923insAGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAGG CCACGGCAGCCGCCCCACGAAGAGTGGGAC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCE_chr7_2553979_2619728	2595857	A A	ACAGCCAT others(101): Show ACAGCCATGCTCTGCTCACCATGGCCGGTGCTGTACTTGCCTCCCTGGAG GGTCGCAGCCATGCTCTGCTCACCATGGCCGGTGCTGTACTTGCCTCCCT GGAGGGTCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0189 a0003c0005t0008g0189	1	416	0.0024	108	c.144 others(125): Show c.1440+962_1440+963insTGCTGTACTTGCCTCCCTGGAGGGTCGC AGCCATGCTCTGCTCACCATGGCCGGTGCTGTACTTGCCTCCCTGGAGGG TCGCAGCCATGCTCTGCTCACCATGGCCGG		IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(101): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCG TGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGT TTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	222	0.0045	108	c.436 others(127): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCTCTCTCAC TCTCGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTC TCTGTTTCTCTCTCTCTCTCTCTCTCTCTCTC		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAK2_chr3_10159919_10248745	10246702	A A	ATGAAAAG others(101): Show ATGAAAAGAAAAAAAGAAAATACAAAAAGATAAAAAAAAAAAAAAAGAAG GGAAAAAGATAAAAAAAAAAAAAAAAATAAAAAGAAGAAATAAGAAAGAG AAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	292	0.0034	108	c.44 others(119): Show c.4474_*4475insTGAAAAGAAAAAAAGAAAATACAAAAAGATAAAA AAAAAAAAAAAGAAGGGAAAAAGATAAAAAAAAAAAAAAAAATAAAAAGA AGAAATAAGAAAGAGAAGGGGAGG		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding					2958		chr3	TogoVar
ITGA4_chr2_181452386_181543940	181542932	A A	AGAGAAAG others(101): Show AGAGAAAGGTAAAGAAGAGAAAAAAGGAAAAAGAGAAACGAAGGGAAAAA AAGGGATGGTGGAATAAAGTAACAGGCGAGGGAAACGAACCCGGCCGTGC TCCTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0211 a0001c0002t0003g0211	1	368	0.0027	108	c.74 others(119): Show c.7405_*7406insGAGAAAGGTAAAGAAGAGAAAAAAGGAAAAAGAG AAACGAAGGGAAAAAAAGGGATGGTGGAATAAAGTAACAGGCGAGGGAAA CGAACCCGGCCGTGCTCCTGCACC		ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding					3993		chr2	TogoVar
ITGAV_chr2_186585056_186685901	186605797	A A	AATATATT others(101): Show AATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGTAT AATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATAT GTATAATAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG03486.hp1 others(4): Show HG02622.hp1 HG02723.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0001 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0005g0087 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0017g0092	7	308	0.0227	108	c.316 others(125): Show c.316+3750_316+3751insATACATATATTCTTATGTATATGTATAA TACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGT ATAATACATATATTCTTATGTATATGTATA		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406008	A A	AGTCTTCC others(101): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0230 a0001c0001t0036g0230	1	276	0.0036	108	c.82 others(117): Show c.825_*826insGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				825		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406008	A A	AGTCTTCC others(101): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0232 a0001c0001t0149g0232	1	276	0.0036	108	c.71 others(117): Show c.718_*825dupGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				825		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(101): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01517.hp1 HG01993.hp1 HG01517.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0213 a0001c0001t0130 a0001c0001t0213	a0001c0001t0130g0087 a0001c0001t0213g0102 a0001c0001t0130g0087 a0001c0001t0213g0102	2	276	0.0073	108	c.80 others(117): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGCCTAGATGT CACAGAGGTCCACTCAGTGACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				802		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406087	T T	TTGTCACT others(101): Show TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0199 a0001c0001t0160g0199	1	276	0.0036	108	c.74 others(117): Show c.746_*747insCACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGT CACAGAGGTCCACTCAGTGACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				746		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406228	C C	CGTCTTCC others(101): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0137 a0001c0001t0125g0137	1	276	0.0036	108	c.60 others(117): Show c.605_*606insTAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				605		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406247	G G	GTGTGTGT others(101): Show GTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0020 a0001c0001t0169g0020	1	276	0.0036	108	c.58 others(117): Show c.586_*587insTTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACA GAGGTCCACTCAGTGACACACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				586		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406423	T T	TTGTCACT others(101): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCC TTCAGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0147	a0001c0001t0147g0036 a0001c0001t0147g0036	1	276	0.0036	108	c.41 others(117): Show c.410_*411insCACACTGAAGGCCTGAGGAAGCCGAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCGAGATGT CACAGAGGTCCACTCAGTGACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				410		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406423	T T	TTGTCACT others(101): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0087 a0001c0001t0130g0087	1	276	0.0036	108	c.41 others(117): Show c.410_*411insCACACTGAAGGCCTGAGGAAGACGAGATGTCACAGA GGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGT CACAGAGGTCCACTCAGTGACA		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				410		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406452	A A	AGTCTTCC others(101): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0225 a0001c0001t0225	a0001c0001t0225g0194 a0001c0001t0225g0194	1	276	0.0036	108	c.38 others(117): Show c.381_*382insGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ATTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAC ACACTGAAGGCCTGAGGAAGAC		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				381		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406510	T T	TCTTCCTC others(101): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTG ACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0224 a0001c0001t0224	a0001c0001t0224g0244 a0001c0001t0224g0244	1	276	0.0036	108	c.32 others(117): Show c.323_*324insCCTAGATGTCACAGAGGTCCACTCAGTGACACACAC TGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACACTGAAGGCCTGAGGAAG		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7				323		chr2	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(101): Show TATATTATATATTATATTCTATATATTATATATTATATTCTATATATTAT ATATTATATTCTATATATTATATATTATATTCTATATATTATATATTATA TTCTATAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	380	0.0026	108	c.195 others(125): Show c.1958-423_1958-422insTATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCTATATATTATATATTATAT TCTATAAAATATTATATATTATATTCTATA		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(101): Show CATATATATATATATATATATATATATATATACATACATATATATATATA TATATACATACATATATATATATATACACATACATATATATATATATATA CACATACAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0043 a0001c0021t0002g0043	1	142	0.0070	108	c.163 others(127): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTGTATATATATATATATGTATGTATATATATATATATATATGTAT GTATATATATATATATATATATATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(101): Show CATATATATATATATATATATATATATATATATACATACATATATATATA TATATACATACATATATATATATATACACATACATATATATATATATATA CACATACAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0021 a0001c0024t0021	a0001c0024t0021g0122 a0001c0024t0021g0122	1	142	0.0070	108	c.163 others(127): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTGTATATATATATATATGTATGTATATATATATATATATGTATGT ATATATATATATATATATATATATATATATAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
IZUMO3_chr9_24537952_24550897	24546442	T T	TTTCTTTT others(101): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0075 a0001c0009t0002g0075	1	426	0.0024	108	c.-79 others(117): Show c.-794_-793insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAA		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					546		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147764920	A A	AAGAAAGA others(101): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG GAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0181 a0001c0004t0026g0181	1	250	0.0040	108	c.-14 others(129): Show c.-149+17535_-149+17536insCTCTCTCTCCCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132149571	T T	TCTCCGCC others(101): Show TCTCCGCCCCCGCCCCACCCCCTCTCCGCCCCCGCCCCACCCCCTCTCCG CCCCCGCCCCACCCCCTCTCCGCCCCCGCCCCACCCCCTCCGCCCCCGCC CCACCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp2 HG00639.hp2 HG01346.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0002 a0002c0005 a0003c0002	a0002c0005t0001 a0003c0002t0001 a0002c0005t0001 a0003c0002t0001	a0002c0005t0001g0049 a0003c0002t0001g0034 a0002c0005t0001g0049 a0003c0002t0001g0034	2	158	0.0127	108	c.194 others(123): Show c.1947+82_1947+83insTCTCCGCCCCCGCCCCACCCCCTCTCCGCC CCCGCCCCACCCCCTCTCCGCCCCCGCCCCACCCCCTCCGCCCCCGCCCC ACCCCCCCTCCGCCCCCGCCCCACCCCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149587	A A	ACCCCCTC others(101): Show ACCCCCTCTCCGCCCCCGCCCCACCCCCTCTCCGCCCCCGCCCCACCCCC CTCCGCCCCCGCCCCACCCCCCTCCGCCCCCGCCCCACCCCCCTCCGCCC CCGCCCCAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03471.hp2 NA19043.hp2 HG02895.hp2 HG03471.hp2 NA19043.hp2	a0004 a0006 a0004 a0006	a0004c0014 a0006c0044 a0004c0014 a0006c0044	a0004c0014t0013 a0004c0014t0031 a0006c0044t0002 a0004c0014t0013 a0004c0014t0031 a0006c0044t0002	a0004c0014t0013g0147 a0004c0014t0031g0150 a0006c0044t0002g0031 a0004c0014t0013g0147 a0004c0014t0031g0150 a0006c0044t0002g0031	3	158	0.0190	108	c.194 others(123): Show c.1947+82_1947+83insTCTCCGCCCCCGCCCCACCCCCTCTCCGCC CCCGCCCCACCCCCCTCCGCCCCCGCCCCACCCCCCTCCGCCCCCGCCCC ACCCCCCTCCGCCCCCGCCCCACCCCCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149587	A A	ACCCCCTC others(101): Show ACCCCCTCTCCGCCCCCGCCCCACCCCCTCTCCGCCCCCGCCCCACCCCC CTCCGCCCCCGCCCCACCTCCCTCCGCCCCCGCCCCACCCCCCTCCGCCC CCGCCCCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	108	c.194 others(123): Show c.1947+82_1947+83insTCTCCGCCCCCGCCCCACCCCCTCTCCGCC CCCGCCCCACCCCCCTCCGCCCCCGCCCCACCTCCCTCCGCCCCCGCCCC ACCCCCCTCCGCCCCCGCCCCACCCCCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JCHAIN_chr4_70650541_70671508	70667040	A A	ATATTTTG others(101): Show ATATTTTGTATATATCTCACAAAATCTGTATTTTGTATATATCTCACAAA ATCTGTATTTTGTATATATCTCACAAAATCTGTATTTTGTATATATCTCA CAAAATCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03041.hp1 others(2): Show HG02258.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009	a0001c0002t0001g0028 a0001c0002t0003g0121 a0001c0002t0009g0120 a0001c0002t0001g0028 a0001c0002t0003g0121 a0001c0002t0009g0120	5	366	0.0137	108	c.-55 others(117): Show c.-551_-550insCAGATTTTGTGAGATATATACAAAATACAGATTTTG TGAGATATATACAAAATACAGATTTTGTGAGATATATACAAAATACAGAT TTTGTGAGATATATACAAAATA		JCHAIN	ENSG00000132465.12	transcript	ENST00000254801.9	protein_coding					533		chr4	TogoVar
JPH2_chr20_44101590_44192188	44134615	A A	ATAAATAA others(101): Show ATAAATAATATATATTTATTATAAATATATATAAATAATATATATTTATT ATAAATATATAAATAATATATATTTATTATAAATATATAAATATTTATTA TAAATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18968.hp2 NA19009.hp2 NA18964.hp1 NA18968.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0064 a0002c0005t0010 a0002c0002t0064 a0002c0005t0010	a0002c0002t0064g0102 a0002c0005t0010g0012 a0002c0005t0010g0021 a0002c0002t0064g0102 a0002c0005t0010g0012 a0002c0005t0010g0021	3	338	0.0089	108	c.117 others(129): Show c.1170-15993_1170-15992insATATATTTATAATAAATATTTATA TATTTATAATAAATATATATTATTTATATATTTATAATAAATATATATTA TTTATATATATTTATAATAAATATATATTATTTA		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5						chr20	TogoVar
KALRN_chr3_124028369_124731325	124673478	A A	ACATATAG others(101): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp1 HG01123.hp2 others(13): Show HG00642.hp2 HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01258.hp2 HG01496.hp2 HG02071.hp1 HG02129.hp2 NA18612.hp1 NA18947.hp1 NA18955.hp1 NA18964.hp1 NA19002.hp2 NA19010.hp1 NA19077.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0009 a0001c0010 others(8): Show a0001c0006 a0001c0009 a0001c0010 a0001c0015 a0001c0033 a0001c0036 a0001c0049 a0001c0054 a0001c0073 a0001c0074 a0003c0076	a0001c0006t0001 a0001c0009t0001 a0001c0010t0002 others(8): Show a0001c0006t0001 a0001c0009t0001 a0001c0010t0002 a0001c0015t0001 a0001c0033t0001 a0001c0036t0002 a0001c0049t0001 a0001c0054t0001 a0001c0073t0006 a0001c0074t0002 a0003c0076t0001	a0001c0006t0001g0013 a0001c0006t0001g0025 a0001c0006t0001g0069 others(13): Show a0001c0006t0001g0013 a0001c0006t0001g0025 a0001c0006t0001g0069 a0001c0009t0001g0065 a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0010t0002g0050 a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0033t0001g0037 a0001c0036t0002g0054 a0001c0049t0001g0003 a0001c0054t0001g0057 a0001c0073t0006g0096 a0001c0074t0002g0047 a0003c0076t0001g0068	16	116	0.1379	108	c.694 others(125): Show c.6943-851_6943-850insGCATATAGAATATATATGTATATCCTGT ATGTATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATAT AGAATATATATGTATATCCTGTATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(101): Show ACATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAATATA TATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGT ATGTATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0003 a0001c0032t0003	a0001c0032t0003g0090 a0001c0032t0003g0090	1	116	0.0086	108	c.694 others(125): Show c.6943-827_6943-720dupCCTGTATGTATATGCATATAGAATATAT ATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTA TGTATATGCATATAGAATATATATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673640	T T	TATATCCT others(101): Show TATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTATGT ATATGCATATAGAATATATATGTATATCCTGTATGTATATGCATATAGAA TATATATGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0091 a0001c0039t0001g0091	1	116	0.0086	108	c.694 others(125): Show c.6943-720_6943-719insCCTGTATGTATATGCATATAGAATATAT ATGTATATCCTGTATGTATATGCATATAGAATATATATGTATATCCTGTA TGTATATGCATATAGAATATATATGCATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK4_chr1_62231165_62324434	62278376	C C	CCTTTCTT others(101): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0023 a0003c0029t0023	a0003c0029t0023g0012 a0003c0029t0023g0012	1	322	0.0031	108	c.16+ others(123): Show c.16+3172_16+3173insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAG		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9						chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969305	C C	CTATATTT others(101): Show CTATATTTATAAATTTATATAAAATCTATATTTATAAATTTATATATAAA ATCTATATTTATAAATTTTATATGGAAAATGTATATTTATAAATTTTATA TGGAAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA19068.hp1 NA18942.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0253 a0001c0001t0001g0185 a0001c0001t0001g0253	2	389	0.0051	108	c.-55 others(119): Show c.-5539_-5538insTATATTTATAAATTTATATAAAATCTATATTTAT AAATTTATATATAAAATCTATATTTATAAATTTTATATGGAAAATGTATA TTTATAAATTTTATATGGAAAATG		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					4371		chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TATATATA others(101): Show TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp2 HG02004.hp2 others(2): Show HG01975.hp1 HG01978.hp2 HG02004.hp2 NA18968.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0042 a0001c0002t0001g0032 a0001c0002t0001g0033 others(2): Show a0001c0001t0003g0042 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0061 a0001c0002t0001g0070	5	232	0.0216	108	c.-67 others(127): Show c.-67-49302_-67-49301insATATATATCCAAGAGGATATATATAT ATATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63432772	T T	TCAGGGAA others(101): Show TCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCC ACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGG CTCCACCCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02976.hp1 others(2): Show HG01891.hp1 HG02886.hp1 HG02976.hp1 HG03516.hp1 HG03540.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0025 a0001c0004 a0006c0025	a0001c0004t0004 a0006c0025t0086 a0001c0004t0004 a0006c0025t0086	a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 others(2): Show a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0004t0004g0200 a0001c0004t0004g0202 a0006c0025t0086g0201	5	330	0.0152	108	c.111 others(126): Show c.1118+929_1118+1036dupTGGGTGGAGCCTTCCCTGAGGGTGGAT CCTTCCCTGGGGGTGGGGCCTTCCCAGAGGGTGGAGCCTTCCCTGAGGGT GGGGCCTTCCCTGAGGGTGGGGCCTTCCCTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	8/16						chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442719	C C	CCATCACC others(101): Show CCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATC ACCATCACCATCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG02683.hp1 others(1): Show HG00140.hp2 HG00735.hp2 HG02683.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0055 a0001c0002t0002 a0001c0002t0055	a0001c0002t0002g0185 a0001c0002t0002g0189 a0001c0002t0002g0242 others(1): Show a0001c0002t0002g0185 a0001c0002t0002g0189 a0001c0002t0002g0242 a0001c0002t0055g0188	4	330	0.0121	108	c.691 others(123): Show c.691-189_691-188insATGGTGGTGATGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KCNT1_chr9_135697185_135800502	135733433	T T	TGCCCCCA others(101): Show TGCCCCCACACCTGCCCCCGTACCTCCCCCCACACCTGCCCCCACACCTG CCCCCACACCTGCCCTCACACCTGCCCCCACACCCGCCCCCACACCCGCC CCCACACCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(119): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0001c0026 a0001c0027 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0026 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0004t0030 a0001c0004t0037 a0001c0005t0001 a0001c0006t0009 a0001c0006t0010 a0001c0006t0036 a0001c0016t0019 a0001c0026t0001 a0001c0027t0009 a0006c0018t0001	a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0042 others(119): Show a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0188 a0001c0001t0002g0196 a0001c0001t0002g0251 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0008g0008 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0001t0016g0102 a0001c0001t0016g0254 a0001c0001t0022g0193 a0001c0001t0026g0123 a0001c0001t0038g0100 a0001c0001t0039g0156 a0001c0001t0042g0265 a0001c0001t0043g0197 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0041 a0001c0002t0001g0050 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0096 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0154 a0001c0002t0001g0189 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0244 a0001c0002t0002g0131 a0001c0002t0002g0150 a0001c0002t0003g0105 a0001c0002t0006g0054 a0001c0002t0029g0182 a0001c0002t0032g0200 a0001c0002t0033g0139 a0001c0002t0035g0109 a0001c0003t0001g0022 a0001c0003t0001g0069 a0001c0003t0001g0082 a0001c0003t0001g0126 a0001c0003t0001g0151 a0001c0003t0001g0180 a0001c0003t0001g0210 a0001c0003t0001g0248 a0001c0003t0001g0272 a0001c0003t0002g0153 a0001c0003t0002g0192 a0001c0003t0002g0199 a0001c0003t0002g0247 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0003t0010g0148 a0001c0003t0021g0259 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0092 a0001c0004t0001g0130 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0187 a0001c0004t0001g0195 a0001c0004t0001g0209 a0001c0004t0002g0125 a0001c0004t0007g0006 a0001c0004t0030g0146 a0001c0004t0037g0004 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0217 a0001c0005t0001g0240 a0001c0005t0001g0261 a0001c0006t0009g0012 a0001c0006t0010g0010 a0001c0006t0036g0009 a0001c0016t0019g0116 a0001c0026t0001g0051 a0001c0027t0009g0268 a0006c0018t0001g0061	122	272	0.4485	108	c.255 others(127): Show c.255-16654_255-16653insTGCCCCCGTACCTCCCCCCACACCTG CCCCCACACCTGCCCCCACACCTGCCCTCACACCTGCCCCCACACCCGCC CCCACACCCGCCCCCACACCCGCCCCCACACC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135733433	T T	TGCCCCCA others(101): Show TGCCCCCACACCTGCCCCTGTACCTCCCCCCACACCTGCCCCCACACCTG CCCCCACACCTGCCCCCACACCTGCCCTCACACCTGCCCCCACACCCGCC CCCACACCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0271 a0001c0015t0001g0271	1	272	0.0037	108	c.255 others(127): Show c.255-16654_255-16653insTGCCCCTGTACCTCCCCCCACACCTG CCCCCACACCTGCCCCCACACCTGCCCCCACACCTGCCCTCACACCTGCC CCCACACCCGCCCCCACACCCGCCCCCACACC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135733433	T T	TGCCCCCA others(101): Show TGCCCCCACACCTGCCCCTGTACCTCCCCCCACACCTGCCCCCACACCTG CCCCCACACCTGCCCTCACACCTGCCCCCACACCCGCCCCCACACCCGCC CCCACACCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01081.hp2 others(39): Show HG00544.hp1 HG00609.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02809.hp2 HG02895.hp2 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18959.hp1 NA18959.hp2 NA19043.hp2 NA20300.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0019 a0001c0020 a0001c0024 a0004c0017 a0005c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0034 a0001c0003t0001 a0001c0003t0009 a0001c0004t0002 a0001c0004t0004 a0001c0004t0012 a0001c0004t0014 a0001c0007t0001 a0001c0009t0006 a0001c0010t0001 a0001c0010t0014 a0001c0013t0024 a0001c0019t0003 a0001c0020t0017 a0001c0024t0023 a0004c0017t0004 a0005c0021t0001	a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0221 others(39): Show a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0003g0222 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0013g0176 a0001c0001t0027g0157 a0001c0002t0001g0090 a0001c0002t0001g0184 a0001c0002t0001g0213 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0002g0219 a0001c0002t0002g0228 a0001c0002t0003g0120 a0001c0002t0005g0220 a0001c0002t0034g0179 a0001c0003t0001g0164 a0001c0003t0001g0178 a0001c0003t0001g0227 a0001c0003t0009g0177 a0001c0004t0002g0147 a0001c0004t0004g0003 a0001c0004t0004g0224 a0001c0004t0012g0225 a0001c0004t0012g0226 a0001c0004t0014g0002 a0001c0007t0001g0232 a0001c0009t0006g0159 a0001c0010t0001g0158 a0001c0010t0014g0161 a0001c0013t0024g0046 a0001c0019t0003g0089 a0001c0020t0017g0001 a0001c0024t0023g0048 a0004c0017t0004g0223 a0005c0021t0001g0246	42	272	0.1544	108	c.255 others(127): Show c.255-16654_255-16653insTGCCCCTGTACCTCCCCCCACACCTG CCCCCACACCTGCCCCCACACCTGCCCTCACACCTGCCCCCACACCCGCC CCCACACCCGCCCCCACACCCGCCCCCACACC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135778858	C C	CCCACAGC others(101): Show CCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGAC CACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCC CTGAGACCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0256 a0001c0004t0004g0256	1	272	0.0037	108	c.272 others(124): Show c.2729+80_2729+187dupCACGACCACGGGCCCTCGCCCTGAGACCC CCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACC ACGGGCCCTCGCCCTGAGACCCCCACAGC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135778894	C C	CCCACAGC others(101): Show CCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGAC CACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCC CTGAGACCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	272	0.0037	108	c.272 others(125): Show c.2729+143_2729+144insCCCACAGCCACGACCACGGGCCCTCGCC CTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACA GCCACGACCACGGGCCCTCGCCCTGAGACC		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	23/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM4B_chr19_4964113_5158598	5131645	G G	GGGCAGGG others(101): Show GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG03139.hp2 others(2): Show HG02145.hp1 HG02257.hp1 HG03139.hp2 NA18522.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 others(2): Show a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0027 a0002c0002t0002g0060	5	270	0.0185	108	c.178 others(125): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGA GCTGGTGGCGGGGGAGGCAGGGAGGAGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM7A_chr7_140079746_140181983	140100675	T T	TATACATA others(101): Show TATACATATATATATATATATATATACACATATATATATATATATATATA CACATATATATATATATATATATATATACACATATATATATATATATATA TATATACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0120 a0001c0001t0031g0120	1	344	0.0029	108	c.163 others(125): Show c.1639-653_1639-652insGTGTATATATATATATATATATATATAT GTGTATATATATATATATATATATATATGTGTATATATATATATATATAT ATGTGTATATATATATATATATATATGTAT		KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19						chr7	TogoVar

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