JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INSYN2B_chr5_169856303_169985495	169869560	CCTTATAA others(28): Show CCTTATAAATGGGGAGGGACAGAGCCCTCTCATCTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0109 a0002c0002t0017g0109	1	318	0.0031	-35	c.142 others(54): Show c.1422-5136_1422-5102delCAGATGAGAGGGCTCTGTCCCTCCCC ATTTATAAG	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	3/3			chr5	TogoVar
INTS1_chr7_1465277_1509389	1484943	ACCCCGTC others(28): Show ACCCCGTCCCCTCCCCAGGGCCACACTGCCGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02630.hp1 others(1): Show HG01243.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0044 a0001c0006t0005g0227 a0001c0006t0005g0228 a0001c0006t0005g0044 a0001c0006t0005g0227 a0001c0006t0005g0228	4	316	0.0127	-35	c.326 others(52): Show c.3261+120_3261+154delCCAGCCGGCAGTGTGGCCCTGGGGAGGG GACGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	24/47			chr7	TogoVar
IQANK1_chr8_143729139_143795645	143776004	GGGCCGGG others(28): Show GGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp2 HG03139.hp2 others(2): Show HG01175.hp1 HG02486.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp2	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0007c0007 a0011c0012 a0001c0001 a0007c0007 a0011c0012	a0001c0001t0001 a0007c0007t0001 a0011c0012t0001 a0001c0001t0001 a0007c0007t0001 a0011c0012t0001	a0001c0001t0001g0341 a0007c0007t0001g0013 a0011c0012t0001g0342 others(2): Show a0001c0001t0001g0341 a0007c0007t0001g0013 a0011c0012t0001g0342 a0011c0012t0001g0345 a0011c0012t0001g0347	5	349	0.0143	-35	c.789 others(52): Show c.789+3535_789+3569delTGGCTCACGCCTGTAATCCCAGCGGCCG GGCGCGG	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCM_chr4_149346709_149820843	149391198	TACATATT others(28): Show TACATATTGTTGGGGGGTCAGTTTCAATAGTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	252	0.0040	-35	c.139 others(56): Show c.1391-39167_1391-39133delCATGAACTATTGAAACTGACCCCC CAACAATATGT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149420987	CATAATTA others(28): Show CATAATTATGACCAGCACAAATGTTCAGTAGTGCCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(148): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0004c0006 a0005c0007 a0007c0008 a0008c0010 a0009c0014 a0010c0011 a0011c0012 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0007t0001 a0007c0008t0002 a0008c0010t0001 a0009c0014t0002 a0010c0011t0001 a0011c0012t0001 a0012c0013t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 others(148): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0004g0252 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0050 a0001c0002t0001g0056 a0001c0002t0001g0067 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0001g0207 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0105 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0155 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0004t0001g0224 a0001c0004t0001g0225 a0003c0005t0001g0016 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231 a0005c0007t0001g0048 a0005c0007t0001g0212 a0007c0008t0002g0220 a0007c0008t0002g0221 a0008c0010t0001g0024 a0009c0014t0002g0134 a0010c0011t0001g0119 a0011c0012t0001g0084 a0012c0013t0002g0162	151	252	0.5992	-35	c.139 others(56): Show c.1390+12374_1390+12408delTGGCACTACTGAACATTTGTGCTG GTCATAATTAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149638897	TAGTTTTG others(28): Show TAGTTTTGCCTGCTTCTAAGTCCTAAACTGGCAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(169): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0004c0006 a0005c0007 a0007c0008 a0008c0010 a0009c0014 a0010c0011 a0011c0012 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0007t0001 a0007c0008t0002 a0008c0010t0001 a0009c0014t0002 a0010c0011t0001 a0011c0012t0001 a0012c0013t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 others(169): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0186 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0004g0252 a0001c0002t0001g0015 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0118 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0158 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0207 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0105 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0155 a0001c0002t0002g0174 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0193 a0001c0004t0001g0194 a0001c0004t0001g0224 a0001c0004t0001g0225 a0003c0005t0001g0016 a0003c0005t0001g0223 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231 a0005c0007t0001g0048 a0005c0007t0001g0212 a0007c0008t0002g0220 a0007c0008t0002g0221 a0008c0010t0001g0024 a0009c0014t0002g0134 a0010c0011t0001g0119 a0011c0012t0001g0084 a0012c0013t0002g0162	172	252	0.6825	-35	c.566 others(54): Show c.566-17688_566-17654delTTTTGCCAGTTTAGGACTTAGAAGCA GGCAAAACT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76436489	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03195.hp1 others(4): Show HG01891.hp1 HG02055.hp1 HG03195.hp1 NA18906.hp1 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0009 a0028	a0001c0002 a0002c0006 a0003c0004 others(4): Show a0001c0002 a0002c0006 a0003c0004 a0006c0008 a0009c0014 a0009c0039 a0028c0033	a0001c0002t0002 a0002c0006t0001 a0003c0004t0009 others(4): Show a0001c0002t0002 a0002c0006t0001 a0003c0004t0009 a0006c0008t0002 a0009c0014t0009 a0009c0039t0001 a0028c0033t0004	a0001c0002t0002g0111 a0002c0006t0001g0128 a0003c0004t0009g0118 others(4): Show a0001c0002t0002g0111 a0002c0006t0001g0128 a0003c0004t0009g0118 a0006c0008t0002g0130 a0009c0014t0009g0126 a0009c0039t0001g0127 a0028c0033t0004g0113	7	222	0.0315	-35	c.47- others(52): Show c.47-25079_47-25045delATATATATATATATATATATATATATAT TTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76436491	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02965.hp1 HG02559.hp1 HG02622.hp1 HG02965.hp1	a0002 a0006 a0025 a0002 a0006 a0025	a0002c0001 a0006c0008 a0025c0051 a0002c0001 a0006c0008 a0025c0051	a0002c0001t0004 a0006c0008t0001 a0025c0051t0002 a0002c0001t0004 a0006c0008t0001 a0025c0051t0002	a0002c0001t0004g0206 a0006c0008t0001g0207 a0025c0051t0002g0112 a0002c0001t0004g0206 a0006c0008t0001g0207 a0025c0051t0002g0112	3	222	0.0135	-35	c.47- others(52): Show c.47-25077_47-25043delATATATATATATATATATATATATATTT TTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76436493	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0029 a0029	a0029c0054 a0029c0054	a0029c0054t0001 a0029c0054t0001	a0029c0054t0001g0208 a0029c0054t0001g0208	1	222	0.0045	-35	c.47- others(52): Show c.47-25075_47-25041delATATATATATATATATATATATATTTTT TTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76496742	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0161 a0006c0008t0004g0161	1	222	0.0045	-35	c.146 others(54): Show c.146+35076_146+35110delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRF2_chr4_184382729_184479550	184430268	CTGTATGC others(28): Show CTGTATGCCTCCTGCTGTCTGGCCCAGCCTTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01099.hp2 others(5): Show HG00323.hp1 HG00639.hp1 HG01099.hp2 HG01515.hp2 HG01517.hp2 HG02683.hp1 HG03669.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0228 others(5): Show a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0228 a0001c0001t0004g0288 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0130 a0001c0002t0001g0153	8	376	0.0213	-35	c.-6- others(50): Show c.-6-1233_-6-1199delAGGAAAAGGCTGGGCCAGACAGCAGGAGGC ATACA	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRF2_chr4_184382729_184479550	184430283	TGTCTGGC others(28): Show TGTCTGGCCCAGCCTTTTCCTTGTATGCCTCCTGCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01433.hp1 others(11): Show HG00642.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02717.hp1 HG02976.hp1 HG03654.hp2 HG04199.hp1 NA18952.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0189 a0001c0001t0001g0233 a0001c0001t0003g0024 others(11): Show a0001c0001t0001g0189 a0001c0001t0001g0233 a0001c0001t0003g0024 a0001c0001t0003g0209 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0304 a0001c0001t0004g0150 a0001c0002t0001g0108 a0001c0002t0001g0154 a0001c0002t0001g0255 a0001c0002t0001g0292 a0001c0002t0001g0323	14	376	0.0372	-35	c.-6- others(50): Show c.-6-1248_-6-1214delTGCAGGAGGCATACAAGGAAAAGGCTGGGC CAGAC	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRX4_chr5_1872413_1887925	1876560	AGGCAAGG others(28): Show AGGCAAGGGCCTGTGGTCGCCTCCTCGCCGCCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp2 NA19240.hp1 HG02965.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0008 a0001c0004t0001g0025 a0001c0004t0001g0008 a0001c0004t0001g0025	3	436	0.0069	-35	c.13 others(46): Show c.1374_*1408delCGGGGGCGGCGAGGAGGCGACCACAGGCCCTTGC C	IRX4	ENSG00000113430.10	transcript	ENST00000231357.7	protein_coding		852		chr5	TogoVar
ISOC2_chr19_55447985_55466642	55455873	AGGGTCTG others(28): Show AGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01167.hp2 others(36): Show HG00639.hp2 HG00642.hp1 HG01167.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG06807.hp2 NA18948.hp1 NA18980.hp1 NA18982.hp2 NA19043.hp1 NA19043.hp2 NA19083.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0009 a0001c0001 a0001c0003 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0006c0009t0004	a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0151 others(26): Show a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0151 a0001c0001t0003g0153 a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0118 a0001c0001t0004g0163 a0001c0001t0006g0113 a0001c0001t0010g0074 a0001c0003t0001g0101 a0001c0003t0004g0020 a0001c0003t0004g0047 a0001c0003t0004g0102 a0001c0003t0006g0014 a0001c0003t0006g0042 a0001c0003t0006g0109 a0001c0003t0006g0127 a0001c0003t0006g0128 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0007g0057 a0001c0003t0007g0058 a0001c0003t0007g0060 a0001c0003t0012g0083 a0006c0009t0004g0123	39	380	0.1026	-35	c.139 others(48): Show c.139-63_139-29delAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGA CCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5			chr19	TogoVar
ITGA6_chr2_172422586_172511459	172501277	TGGCATTT others(28): Show TGGCATTTGTTCCATAAAATTTACTGTAAAAGGCAG	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0177 a0001c0003t0002g0177	1	352	0.0028	-35	c.323 others(54): Show c.3232-2813_3232-2779delGGCATTTGTTCCATAAAATTTACTGT AAAAGGCAG	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	25/25			chr2	TogoVar
ITGA8_chr10_15508954_15724922	15694230	TGATAATA others(28): Show TGATAATATATCATATATATGATAACATATACATCA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0216 a0001c0001t0042g0216	1	220	0.0046	-35	c.344 others(52): Show c.344-6227_344-6193delTGATGTATATGTTATCATATATATGATA TATTATC	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37526298	TAGGTAGG others(28): Show TAGGTAGGGGTTGGGGTAGCCTAACTCTTAAGCCTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG03195.hp2 others(3): Show HG00639.hp2 HG02572.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0010 a0002c0011 others(1): Show a0002c0002 a0002c0010 a0002c0011 a0006c0029	a0002c0002t0005 a0002c0002t0010 a0002c0002t0026 others(3): Show a0002c0002t0005 a0002c0002t0010 a0002c0002t0026 a0002c0010t0003 a0002c0011t0015 a0006c0029t0006	a0002c0002t0005g0050 a0002c0002t0010g0087 a0002c0002t0026g0052 others(3): Show a0002c0002t0005g0050 a0002c0002t0010g0087 a0002c0002t0026g0052 a0002c0010t0003g0049 a0002c0011t0015g0053 a0006c0029t0006g0048	6	168	0.0357	-35	c.137 others(52): Show c.1373+264_1373+298delGGTAGGGGTTGGGGTAGCCTAACTCTTA AGCCTAA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31296580	TATGAGGC others(28): Show TATGAGGCAGAAATCACGTTGCAGAGCCGTGGCATG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	244	0.0041	-35	c.135 others(52): Show c.1357-930_1357-896delAGGCAGAAATCACGTTGCAGAGCCGTGG CATGATG	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334551	CTTCCTCC others(28): Show CTTCCTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02145.hp1 others(17): Show HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 NA20300.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0012 a0001c0005 a0010c0012	a0001c0005t0004 a0010c0012t0004 a0001c0005t0004 a0010c0012t0004	a0001c0005t0004g0001 a0001c0005t0004g0149 a0001c0005t0004g0150 others(16): Show a0001c0005t0004g0001 a0001c0005t0004g0149 a0001c0005t0004g0150 a0001c0005t0004g0151 a0001c0005t0004g0152 a0001c0005t0004g0153 a0001c0005t0004g0154 a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0159 a0001c0005t0004g0160 a0001c0005t0004g0161 a0001c0005t0004g0162 a0001c0005t0004g0163 a0001c0005t0004g0165 a0001c0005t0004g0243 a0010c0012t0004g0164	20	244	0.0820	-35	c.28 others(46): Show c.2845_*2879delTTCCTCCTTCCTTCCTTCCTTCCTTCCTCCTTCC T	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1675		chr16	TogoVar
ITGB2_chr21_44880953_44925899	44912781	ACCCCAGG others(28): Show ACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(59): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01261.hp1 HG01433.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18964.hp1 NA18980.hp2 NA18987.hp1 NA18992.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19084.hp2 NA19087.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0001c0007 a0001c0009 others(7): Show a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0015 a0001c0020 a0001c0040 a0001c0042 a0001c0044 a0007c0041	a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 others(18): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0005 a0001c0007t0010 a0001c0009t0001 a0001c0009t0005 a0001c0010t0001 a0001c0010t0011 a0001c0015t0001 a0001c0015t0003 a0001c0020t0004 a0001c0020t0007 a0001c0040t0002 a0001c0042t0003 a0001c0044t0001 a0007c0041t0003	a0001c0005t0001g0016 a0001c0005t0001g0153 a0001c0005t0001g0205 others(56): Show a0001c0005t0001g0016 a0001c0005t0001g0153 a0001c0005t0001g0205 a0001c0005t0001g0403 a0001c0005t0002g0009 a0001c0005t0002g0044 a0001c0005t0002g0069 a0001c0005t0002g0071 a0001c0005t0002g0101 a0001c0005t0002g0147 a0001c0005t0002g0185 a0001c0005t0002g0186 a0001c0005t0002g0213 a0001c0005t0002g0214 a0001c0005t0002g0285 a0001c0005t0002g0371 a0001c0005t0002g0372 a0001c0005t0002g0388 a0001c0005t0003g0109 a0001c0005t0003g0110 a0001c0007t0001g0100 a0001c0007t0001g0151 a0001c0007t0001g0245 a0001c0007t0001g0273 a0001c0007t0001g0342 a0001c0007t0001g0367 a0001c0007t0001g0369 a0001c0007t0002g0015 a0001c0007t0002g0137 a0001c0007t0003g0102 a0001c0007t0003g0136 a0001c0007t0003g0224 a0001c0007t0003g0248 a0001c0007t0004g0227 a0001c0007t0004g0332 a0001c0007t0005g0329 a0001c0007t0010g0197 a0001c0009t0001g0064 a0001c0009t0001g0067 a0001c0009t0001g0219 a0001c0009t0001g0344 a0001c0009t0005g0244 a0001c0010t0001g0086 a0001c0010t0001g0145 a0001c0010t0001g0260 a0001c0010t0001g0287 a0001c0010t0001g0350 a0001c0010t0001g0379 a0001c0010t0001g0395 a0001c0010t0011g0419 a0001c0015t0001g0267 a0001c0015t0003g0143 a0001c0015t0003g0221 a0001c0020t0004g0207 a0001c0020t0007g0239 a0001c0040t0002g0223 a0001c0042t0003g0139 a0001c0044t0001g0191 a0007c0041t0003g0146	62	444	0.1396	-35	c.-3- others(50): Show c.-3-2031_-3-1997delGAGTCCTGAAGCTGGCTGGACCCTGCACCC TGGGG	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITGB2_chr21_44880953_44925899	44912804	AGCTTCAG others(28): Show AGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02897.hp2 others(1): Show HG02630.hp1 HG02809.hp2 HG02897.hp2 HG03453.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0036 a0002c0037 others(1): Show a0001c0001 a0002c0036 a0002c0037 a0004c0038	a0001c0001t0008 a0002c0036t0004 a0002c0037t0004 others(1): Show a0001c0001t0008 a0002c0036t0004 a0002c0037t0004 a0004c0038t0002	a0001c0001t0008g0226 a0002c0036t0004g0279 a0002c0037t0004g0348 others(1): Show a0001c0001t0008g0226 a0002c0036t0004g0279 a0002c0037t0004g0348 a0004c0038t0002g0237	4	444	0.0090	-35	c.-3- others(50): Show c.-3-2054_-3-2020delCGGCTGGACCCTGCACCCTGGGGGAGTCCT GAAGC	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITIH2_chr10_7698316_7754520	7719923	AAAGTGTG others(28): Show AAAGTGTGGGAGGGTGGGAGTGGGGAGACTTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG01517.hp1 others(3): Show HG00280.hp1 HG01496.hp1 HG01517.hp1 HG02300.hp1 HG04228.hp1 HG04228.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0065 a0006c0006t0001g0249 a0006c0006t0001g0250 others(3): Show a0001c0001t0001g0065 a0006c0006t0001g0249 a0006c0006t0001g0250 a0006c0006t0001g0251 a0006c0006t0001g0252 a0006c0006t0001g0253	6	380	0.0158	-35	c.631 others(50): Show c.631-733_631-699delAGACTTGGGAGAAGTGTGGGAGGGTGGGAG TGGGG	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566801	AGGAAGAG others(28): Show AGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG03540.hp1 HG02965.hp2 HG02970.hp2 HG03540.hp1	a0000 a0000	a0000c0011 a0000c0065 a0000c0011 a0000c0065	a0000c0011t0007 a0000c0011t0031 a0000c0065t0007 a0000c0011t0007 a0000c0011t0031 a0000c0065t0007	a0000c0011t0007g0084 a0000c0011t0031g0260 a0000c0065t0007g0147 a0000c0011t0007g0084 a0000c0011t0031g0260 a0000c0065t0007g0147	3	342	0.0088	-35	c.215 others(52): Show c.2150-429_2150-395delCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26738387	GAACAGAG others(28): Show GAACAGAGAGATGAGGTAACAGAGTAGAGAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02922.hp2 HG00738.hp2 HG01192.hp1 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0037 a0001c0015t0004 a0001c0015t0044 a0001c0008t0037 a0001c0015t0004 a0001c0015t0044	a0001c0008t0037g0031 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0008t0037g0031 a0001c0015t0004g0006 a0001c0015t0044g0106	3	142	0.0211	-35	c.164 others(54): Show c.164-12657_164-12623delGTCTCCTCTCTACTCTGTTACCTCAT CTCTCTGTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITSN1_chr21_33637501_33904861	33902332	AGCCTCAG others(28): Show AGCCTCAGCACTCCTGGTTCCTGGAAAGGTTGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG03195.hp2 HG00639.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0066 a0001c0001t0022g0236 a0001c0001t0022g0066 a0001c0001t0022g0236	2	242	0.0083	-35	c.14 others(48): Show c.14033_*14067delGCCTCAGCACTCCTGGTTCCTGGAAAGGTTGA GGG	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding		2472		chr21	TogoVar
ITSN1_chr21_33637501_33904861	33902396	TTGAGGGG others(28): Show TTGAGGGGCCTCAGCACTCCTGGTTCCTGGAAAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01934.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0080 a0001c0001t0019g0028 a0001c0001t0019g0080	2	242	0.0083	-35	c.14 others(48): Show c.14097_*14131delTGAGGGGCCTCAGCACTCCTGGTTCCTGGAAA GGC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding		2536		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132115189	AGGTCACC others(28): Show AGGTCACCGCGATCGCGGCTAGGGGTCACCCTGCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0154 a0001c0006t0017g0154	1	158	0.0063	-35	c.136 others(52): Show c.136-1855_136-1821delCCGGGTCACCGCGATCGCGGCTAGGGGT CACCCTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132115223	CGGGTCAC others(28): Show CGGGTCACCGCGATCGCGGCTAGGGGTCACCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0013 a0003c0002t0001g0013	1	158	0.0063	-35	c.136 others(52): Show c.136-1819_136-1785delTGGGTCACCGCGATCGCGGCTAGGGGTC ACCCTGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132167807	ACCCCTCA others(28): Show ACCCCTCACCCCTCGGCCCTCACCCCTCGGCCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02895.hp1 others(3): Show HG01884.hp1 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0016 a0004c0024 a0001c0001 a0002c0016 a0004c0024	a0001c0001t0006 a0002c0016t0006 a0002c0016t0014 others(1): Show a0001c0001t0006 a0002c0016t0006 a0002c0016t0014 a0004c0024t0006	a0001c0001t0006g0006 a0002c0016t0006g0052 a0002c0016t0006g0099 others(3): Show a0001c0001t0006g0006 a0002c0016t0006g0052 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0004c0024t0006g0148	6	158	0.0380	-35	c.23 others(50): Show c.23-139_*23-105delACCCCTCGGCCCTCACCCCTCGGCCCTCGC CCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132187334	CGGCCCGG others(28): Show CGGCCCGGCCCTGCCCGGCCCTGCCGGGCCCTGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(79): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01106.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0006 a0001c0013 others(32): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0034 a0001c0040 a0002c0005 a0002c0010 a0002c0023 a0002c0026 a0002c0031 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0024 a0004c0027 a0004c0030 a0004c0033 a0004c0036 a0004c0045 a0006c0044 a0008c0039 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0006t0003 a0001c0006t0025 a0001c0006t0035 a0001c0013t0001 a0001c0013t0024 a0001c0015t0002 a0001c0015t0028 a0001c0017t0027 a0001c0019t0001 a0001c0022t0002 a0001c0034t0001 a0001c0040t0002 a0002c0005t0001 a0002c0005t0010 a0002c0010t0009 a0002c0023t0001 a0002c0026t0001 a0002c0026t0026 a0002c0031t0039 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0003t0012 a0003c0018t0002 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0011t0001 a0004c0014t0031 a0004c0024t0002 a0004c0027t0001 a0004c0030t0030 a0004c0033t0002 a0004c0036t0001 a0004c0045t0001 a0006c0044t0002 a0008c0039t0002 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 others(79): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0025g0153 a0001c0006t0035g0057 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0024g0078 a0001c0015t0002g0018 a0001c0015t0028g0017 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0034t0001g0021 a0001c0040t0002g0025 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0023t0001g0058 a0002c0026t0001g0106 a0002c0026t0026g0043 a0002c0031t0039g0088 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0131 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0038t0001g0024 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0011t0001g0118 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0027t0001g0066 a0004c0030t0030g0084 a0004c0033t0002g0029 a0004c0036t0001g0039 a0004c0045t0001g0090 a0006c0044t0002g0031 a0008c0039t0002g0133 a0009c0041t0029g0019	82	158	0.5190	-35	c.60 others(46): Show c.6082_*6116delGGCCCGGCCCTGCCCGGCCCTGCCGGGCCCTGCC G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		2477		chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337550	CAAGAAAA others(28): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	310	0.0032	-35	c.333 others(54): Show c.333+42733_333+42767delTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JPH2_chr20_44101590_44192188	44134657	AATATATA others(28): Show AATATATATAAATATATATTTATAAATATTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02155.hp2 HG02572.hp1 others(7): Show HG00639.hp2 HG02155.hp2 HG02572.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0016 a0002c0009 a0002c0010	a0001c0001t0077 a0001c0003t0001 a0001c0006t0022 others(6): Show a0001c0001t0077 a0001c0003t0001 a0001c0006t0022 a0001c0007t0024 a0001c0016t0089 a0002c0009t0058 a0002c0010t0014 a0002c0010t0057 a0002c0010t0070	a0001c0001t0077g0184 a0001c0003t0001g0221 a0001c0006t0022g0037 others(7): Show a0001c0001t0077g0184 a0001c0003t0001g0221 a0001c0006t0022g0037 a0001c0006t0022g0038 a0001c0007t0024g0087 a0001c0016t0089g0213 a0002c0009t0058g0098 a0002c0010t0014g0224 a0002c0010t0057g0099 a0002c0010t0070g0187	10	338	0.0296	-35	c.117 others(56): Show c.1170-16069_1170-16035delATTTATAATATTTATAAATATATA TTTATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	532168	AACAGAGA others(28): Show AACAGAGATTTAAAAGGAGTTTGAGAGCATTCGTGT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18971.hp1 NA18949.hp2 NA18971.hp1	a0001 a0027 a0001 a0027	a0001c0061 a0027c0051 a0001c0061 a0027c0051	a0001c0061t0001 a0027c0051t0003 a0001c0061t0001 a0027c0051t0003	a0001c0061t0001g0125 a0027c0051t0003g0039 a0001c0061t0001g0125 a0027c0051t0003g0039	2	254	0.0079	-35	c.-84 others(54): Show c.-84+27445_-84+27479delCGTGTACAGAGATTTAAAAGGAGTTT GAGAGCATT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK4_chr1_62231165_62324434	62321525	ATTGTGAG others(28): Show ATTGTGAGCCAAGTTAGGCATGGGGCTGGGACTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0035 a0002c0003t0002g0035	1	322	0.0031	-35	c.-25 others(46): Show c.-2525_-2491delCCCAGTCCCAGCCCCATGCCTAACTTGGCTCACA A	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding		2092		chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	284	0.0035	-35	c.175 others(54): Show c.1755+5728_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210174915	CCTATCCT others(28): Show CCTATCCTATTCTATTCTATTCTATTCTATTCTATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(124): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0003c0005 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0006t0018 a0001c0011t0001 a0003c0005t0003 a0006c0010t0010	a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 others(124): Show a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0062 a0001c0001t0002g0115 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0265 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0008g0005 a0001c0001t0010g0161 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0012g0253 a0001c0001t0016g0277 a0001c0001t0019g0002 a0001c0001t0024g0178 a0001c0006t0018g0279 a0001c0011t0001g0061 a0003c0005t0003g0019 a0003c0005t0003g0020 a0006c0010t0010g0160	127	284	0.4472	-35	c.-38 others(46): Show c.-3831_-3797delAATAGAATAGAATAGAATAGAATAGAATAGGATA G	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding		3507		chr2	TogoVar
KAT2B_chr3_20035446_20159404	20106980	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0358 a0001c0002t0001g0358	1	374	0.0027	-35	c.852 others(52): Show c.852-4615_852-4581delATATATATATATATATATATATATATAT ATATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17			chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106985	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	374	0.0027	-35	c.852 others(52): Show c.852-4609_852-4575delATATATATATATATATATATATATATAT ATTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106987	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0130 a0001c0002t0012g0130	1	374	0.0027	-35	c.852 others(52): Show c.852-4607_852-4573delATATATATATATATATATATATATATAT TTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03453.hp2 HG03579.hp2 others(4): Show HG02647.hp1 HG03453.hp2 HG03579.hp2 NA18939.hp2 NA18952.hp2 NA18993.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0003 a0001c0002t0005 a0002c0003t0003	a0001c0002t0005g0012 a0001c0002t0005g0035 a0001c0002t0005g0036 others(4): Show a0001c0002t0005g0012 a0001c0002t0005g0035 a0001c0002t0005g0036 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0055	7	374	0.0187	-35	c.852 others(52): Show c.852-4605_852-4571delATATATATATATATATATATATATATTT TTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02698.hp2 HG00438.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0085 a0001c0002t0002g0351 a0001c0001t0001g0085 a0001c0002t0002g0351	2	374	0.0054	-35	c.852 others(52): Show c.852-4603_852-4569delATATATATATATATATATATATATTTTT TTTTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14918688	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	146	0.0069	-35	c.227 others(54): Show c.227-41994_227-41960delAAAAAAAAAAAAAAAAAAATATATAT ATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918692	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp1 HG01106.hp2 others(13): Show HG00408.hp1 HG01071.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp2 HG02055.hp1 HG02273.hp2 HG02738.hp2 HG03130.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0006 a0003c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0028 a0001c0001t0031 a0001c0003t0002 a0002c0002t0001 a0002c0002t0022 a0002c0004t0024 a0002c0006t0006 a0003c0005t0011	a0001c0001t0002g0006 a0001c0001t0002g0145 a0001c0001t0007g0111 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0145 a0001c0001t0007g0111 a0001c0001t0010g0131 a0001c0001t0028g0095 a0001c0001t0031g0049 a0001c0003t0002g0002 a0002c0002t0001g0039 a0002c0002t0001g0053 a0002c0002t0001g0062 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0022g0077 a0002c0004t0024g0059 a0002c0006t0006g0036 a0003c0005t0011g0119	16	146	0.1096	-35	c.227 others(54): Show c.227-41990_227-41956delAAAAAAAAAAAAAAATATATATATAT ATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918694	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	146	0.0069	-35	c.227 others(54): Show c.227-41988_227-41954delAAAAAAAAAAAAATATATATATATAT ATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050024	AGTAGGGT others(28): Show AGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0125 a0001c0003t0004g0141 a0001c0003t0004g0125 a0001c0003t0004g0141	2	146	0.0137	-35	c.726 others(52): Show c.726+5875_726+5909delGGTAGGGTAGGGTAGGGTAGGGTAGGGT AGGGTAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNAB2_chr1_6040888_6106180	6043265	GCCAGCTC others(28): Show GCCAGCTCAAAAGGGCTGCCCACAGGTACAGACCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0202 a0001c0002t0001g0149 a0001c0002t0001g0202	2	360	0.0056	-35	c.-29 others(46): Show c.-2944_-2910delCCAGCTCAAAAGGGCTGCCCACAGGTACAGACCA T	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding		2622		chr1	TogoVar
KCNAB2_chr1_6040888_6106180	6081608	CGGGGGAG others(28): Show CGGGGGAGGGTCCGCCCCATGCCTCTTTCAGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG03486.hp1 HG01891.hp2 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0002t0005g0164 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0002t0005g0164	3	360	0.0083	-35	c.301 others(50): Show c.301-581_301-547delAGGGTCCGCCCCATGCCTCTTTCAGCTCCT GGGGG	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNC3_chr19_50306937_50334377	50319386	GCTCACCT others(28): Show GCTCACCTGCCTCCTCCCCAAGCCCCTAGACAAGGT	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0031 a0014c0016t0031	a0014c0016t0031g0153 a0014c0016t0031g0153	1	380	0.0026	-35	c.23 others(50): Show c.23+802_*23+836delACCTTGTCTAGGGGCTTGGGGAGGAGGCAG GTGAG	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	4/4			chr19	TogoVar
KCNIP4_chr4_20723606_21953772	21291900	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG03579.hp2 others(1): Show HG02630.hp2 HG02965.hp2 HG03579.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0002g0020 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0002g0020 a0001c0001t0003g0018	4	80	0.0500	-35	c.62- others(54): Show c.62-409226_62-409192delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21400512	CCTCTTCT others(28): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02809.hp2 others(3): Show HG01433.hp2 HG02145.hp1 HG02809.hp2 HG02922.hp2 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0001t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0066 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0011g0003 a0001c0002t0001g0040 a0001c0002t0001g0065	6	80	0.0750	-35	c.62- others(54): Show c.62-517838_62-517804delAAGAGAAGAGAAGAGAAGAGAAGAGA AGAGAAGAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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