Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SIMC1_chr5_176233424_176350989	176306051	CGCCCGGC others(120): Show CGCCCGGCCAGCCGCTCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGCGTCAGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20300.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0150 a0001c0001t0001g0158	2	360	0.0056	-127	c.173 others(19): Show c.1735-7625_1735-7499del	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306066	TCCGTCCG others(120): Show TCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GCGTCAGCCCCCTGCCCGGCCAGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG01884.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	360	0.0056	-127	c.173 others(19): Show c.1735-7524_1735-7398del	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306224	GGCCGCCC others(120): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGTCCGGCCAGCCGCCCCA TCCGGGAGGTGAGGGGCACCTCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG02809.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0246 a0001c0001t0001g0139 a0001c0001t0001g0246	2	360	0.0056	-127	c.173 others(19): Show c.1735-7429_1735-7303del	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2280674	CGGCGATC others(120): Show CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18946.hp1 NA18961.hp1 HG00609.hp2 NA18946.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0078 a0001c0001t0001 a0001c0001t0003 a0001c0007t0078	a0001c0001t0001g0283 a0001c0001t0003g0270 a0001c0007t0078g0269 a0001c0001t0001g0283 a0001c0001t0003g0270 a0001c0007t0078g0269	3	330	0.0091	-127	c.970 others(19): Show c.970-22299_970-22173del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280711	CGGCGGCG others(120): Show CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACA	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18995.hp1 NA20805.hp1 NA18967.hp1 NA18995.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0006g0080 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0006g0080	3	330	0.0091	-127	c.970 others(19): Show c.970-22256_970-22130del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281764	GAGAGAGG others(120): Show GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGGCGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	330	0.0030	-127	c.970 others(19): Show c.970-21207_970-21081del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59681608	ATATGTAT others(120): Show ATATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATATG TATATGATGTATATGTATATGTATATGTATATGTATATATATATGTATAT GTATATGTATATGATGTATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0262 a0001c0001t0007g0267 a0001c0001t0007g0262 a0001c0001t0007g0267	2	352	0.0057	-127	c.196 others(17): Show c.196+2361_196+2487del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59696965	CGTCCAGA others(120): Show CGTCCAGAAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCCGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0324 a0001c0001t0006g0324	1	352	0.0028	-127	c.-37 others(19): Show c.-37+12387_-37+12513del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC39A14_chr8_22362278_22427736	22396412	AGGGGGGG others(120): Show AGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0102 a0003c0001t0001g0102	1	324	0.0031	-127	c.-15 others(17): Show c.-15-8282_-15-8156del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(120): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG03831.hp2 others(3): Show HG00609.hp1 HG00642.hp2 HG03831.hp2 HG03927.hp2 NA19001.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0001 a0001c0004 a0001c0005 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0003c0001t0001	a0001c0004t0001g0170 a0001c0004t0002g0187 a0001c0004t0002g0189 others(3): Show a0001c0004t0001g0170 a0001c0004t0002g0187 a0001c0004t0002g0189 a0001c0005t0003g0145 a0001c0005t0003g0146 a0003c0001t0001g0159	6	324	0.0185	-127	c.-15 others(17): Show c.-15-8273_-15-8147del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(120): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01081.hp2 others(5): Show HG00609.hp2 HG00673.hp1 HG01081.hp2 HG01361.hp2 HG02698.hp1 NA18612.hp1 NA18986.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0001 a0001c0004 a0001c0005 a0003c0001	a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0003c0001t0001	a0001c0004t0001g0203 a0001c0004t0001g0225 a0001c0004t0002g0007 others(5): Show a0001c0004t0001g0203 a0001c0004t0001g0225 a0001c0004t0002g0007 a0001c0004t0002g0193 a0001c0004t0002g0201 a0001c0005t0003g0152 a0003c0001t0001g0143 a0003c0001t0001g0148	8	324	0.0247	-127	c.-15 others(17): Show c.-15-8272_-15-8146del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396425	AGAGAGAG others(120): Show AGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGGGGGGGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp2 HG02723.hp2 others(1): Show HG01071.hp2 HG01496.hp2 HG02723.hp2 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0003 a0001c0005t0021 a0002c0002t0002 a0001c0005t0003 a0001c0005t0021 a0002c0002t0002	a0001c0005t0003g0140 a0001c0005t0003g0166 a0001c0005t0021g0177 others(1): Show a0001c0005t0003g0140 a0001c0005t0003g0166 a0001c0005t0021g0177 a0002c0002t0002g0190	4	324	0.0124	-127	c.-15 others(17): Show c.-15-8270_-15-8144del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396427	AGAGAGAG others(120): Show AGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0008 a0001c0016t0008	a0001c0016t0008g0169 a0001c0016t0008g0169	1	324	0.0031	-127	c.-15 others(17): Show c.-15-8268_-15-8142del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC8A1_chr2_40092270_40457090	40219806	CTTTGTTT others(120): Show CTTTGTTTGCTATGCATGAGATTGCTTGAAAAATGTGATTTAGCTCCAAC AGAGCCTCCCTACTATAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTAG AAAATCAATACATCTTTCTGTCAAAATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(116): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19068.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0114 a0001c0001t0115 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0127 a0001c0001t0130 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0155 a0001c0001t0156 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0170 a0001c0001t0177 a0001c0001t0178 a0001c0001t0181 a0001c0001t0182 a0001c0001t0186 a0001c0001t0187 a0001c0001t0188 a0001c0001t0189 a0001c0001t0190 a0001c0003t0165 a0001c0004t0179 a0002c0005t0007	a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0146 others(116): Show a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0002g0190 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0003g0054 a0001c0001t0003g0212 a0001c0001t0005g0020 a0001c0001t0005g0209 a0001c0001t0005g0226 a0001c0001t0006g0136 a0001c0001t0006g0218 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0016g0017 a0001c0001t0016g0152 a0001c0001t0017g0027 a0001c0001t0018g0155 a0001c0001t0018g0167 a0001c0001t0021g0031 a0001c0001t0021g0205 a0001c0001t0023g0023 a0001c0001t0023g0124 a0001c0001t0024g0044 a0001c0001t0024g0111 a0001c0001t0025g0109 a0001c0001t0025g0203 a0001c0001t0034g0159 a0001c0001t0038g0098 a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0047g0011 a0001c0001t0051g0107 a0001c0001t0052g0058 a0001c0001t0055g0009 a0001c0001t0059g0215 a0001c0001t0060g0042 a0001c0001t0061g0055 a0001c0001t0063g0053 a0001c0001t0064g0095 a0001c0001t0065g0065 a0001c0001t0067g0103 a0001c0001t0068g0235 a0001c0001t0071g0234 a0001c0001t0076g0148 a0001c0001t0077g0147 a0001c0001t0078g0066 a0001c0001t0079g0145 a0001c0001t0080g0082 a0001c0001t0085g0196 a0001c0001t0086g0025 a0001c0001t0087g0108 a0001c0001t0088g0062 a0001c0001t0089g0140 a0001c0001t0090g0030 a0001c0001t0091g0129 a0001c0001t0092g0135 a0001c0001t0093g0128 a0001c0001t0094g0141 a0001c0001t0095g0221 a0001c0001t0096g0021 a0001c0001t0099g0180 a0001c0001t0100g0236 a0001c0001t0101g0199 a0001c0001t0102g0100 a0001c0001t0103g0123 a0001c0001t0104g0116 a0001c0001t0105g0045 a0001c0001t0107g0049 a0001c0001t0108g0024 a0001c0001t0110g0198 a0001c0001t0111g0183 a0001c0001t0114g0099 a0001c0001t0115g0073 a0001c0001t0118g0046 a0001c0001t0119g0121 a0001c0001t0120g0077 a0001c0001t0127g0150 a0001c0001t0130g0143 a0001c0001t0134g0089 a0001c0001t0135g0080 a0001c0001t0136g0081 a0001c0001t0141g0162 a0001c0001t0142g0019 a0001c0001t0143g0122 a0001c0001t0144g0164 a0001c0001t0145g0220 a0001c0001t0147g0029 a0001c0001t0148g0126 a0001c0001t0149g0182 a0001c0001t0150g0079 a0001c0001t0151g0110 a0001c0001t0152g0204 a0001c0001t0153g0102 a0001c0001t0155g0201 a0001c0001t0156g0163 a0001c0001t0160g0010 a0001c0001t0161g0178 a0001c0001t0162g0208 a0001c0001t0163g0193 a0001c0001t0164g0060 a0001c0001t0166g0173 a0001c0001t0167g0175 a0001c0001t0168g0125 a0001c0001t0170g0063 a0001c0001t0177g0172 a0001c0001t0178g0014 a0001c0001t0181g0076 a0001c0001t0182g0040 a0001c0001t0186g0039 a0001c0001t0187g0083 a0001c0001t0188g0057 a0001c0001t0189g0118 a0001c0001t0190g0113 a0001c0003t0165g0072 a0001c0004t0179g0012 a0002c0005t0007g0179	119	236	0.5042	-127	c.180 others(21): Show c.1809-41440_1809-41314del	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SNTG2_chr2_945849_1372613	1009188	GGTGTGGG others(120): Show GGTGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCCCAGGAAGACATG CTGGTTCTGATACTGGTGGGTCGTGTGTATGGCAGCCACACCTGTGTCCC CAGGAAGACTGCTGGTTCTGATACTGGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 NA18522.hp2 HG02965.hp2 HG03579.hp1 NA18522.hp2	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0008 a0004c0004 a0006c0028 a0003c0008 a0004c0004 a0006c0028	a0003c0008t0001 a0004c0004t0001 a0006c0028t0001 a0003c0008t0001 a0004c0004t0001 a0006c0028t0001	a0003c0008t0001g0106 a0004c0004t0001g0116 a0006c0028t0001g0117 a0003c0008t0001g0106 a0004c0004t0001g0116 a0006c0028t0001g0117	3	190	0.0158	-127	c.72+ others(17): Show c.72+58124_72+58250del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190224	ATATATAT others(120): Show ATATATATTATTATATAACATATCATATATAATATACATAATATATATTA TTATATATAATATATAATATTATATATTATTATATATAATATATAATATT ATATATTATTATATATAATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0007 a0001c0006 a0002c0007	a0001c0006t0049 a0002c0007t0083 a0001c0006t0049 a0002c0007t0083	a0001c0006t0049g0017 a0002c0007t0083g0149 a0001c0006t0049g0017 a0002c0007t0083g0149	2	356	0.0056	-127	c.-11 others(21): Show c.-112+29309_-112+29435del	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATS2_chr12_49362462_49532425	49436206	CCAGTAGG others(120): Show CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	158	0.0063	-127	c.-24 others(21): Show c.-243-24531_-243-24405del	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49436266	GGGGGGCT others(120): Show GGGGGGCTGACCTCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCGCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA TCTCCCGGATGGGGCAGCTGGCCGGGTT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp2 NA18960.hp2 HG04115.hp1 HG04199.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039	3	158	0.0190	-127	c.-24 others(21): Show c.-243-24492_-243-24366del	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPHK2_chr19_48614506_48635405	48632328	GGGTTTCA others(120): Show GGGTTTCACCATGTTGGCCAGGATGGTCTCCTGATCTCGTGATCTGTCCG CCTCGGCCTCCCAAAGTGCTGTGATTACAGGTGTGAGACACCACACCCGG AACATTTTTGTACTTTTAGTAGAGGCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	398	0.0025	-127	c.25 others(11): Show c.2556_*2682del	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		1924		chr19	TogoVar
STARD6_chr18_54319492_54362858	54343483	CGCCCCTA others(120): Show CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA21309.hp1 NA18973.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0204 a0001c0001t0001g0102 a0001c0001t0001g0204	2	350	0.0057	-127	c.141 others(17): Show c.141-6359_141-6233del	STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding	4/7			chr18	TogoVar
STON1_chr2_48525154_48603513	48564481	TTCTTCTT others(120): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCT CCTCCTCCTCCTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01257.hp2 HG01978.hp2 others(4): Show HG01074.hp1 HG01257.hp2 HG01978.hp2 HG02004.hp2 HG03490.hp2 HG03654.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0138 others(4): Show a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0138 a0002c0002t0001g0199 a0002c0002t0001g0357 a0002c0002t0002g0077 a0002c0002t0002g0118	7	376	0.0186	-127	c.-47 others(19): Show c.-47-16105_-47-15979del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
STXBP5L_chr3_120903205_121429761	121313112	AGACGGGG others(120): Show AGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGAAGG GGGGCTGACCCCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03225.hp1 others(1): Show HG01891.hp1 HG02258.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 others(1): Show a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006	4	290	0.0138	-127	c.211 others(19): Show c.2111-5346_2111-5220del	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
SV2C_chr5_76078383_76338956	76172048	AGCCGCCC others(120): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCG TCTGAGAGGTGAGGGGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02486.hp2 NA20129.hp2 HG02300.hp2 HG02486.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0003c0004t0009 a0001c0001t0001 a0001c0001t0007 a0003c0004t0009	a0001c0001t0001g0058 a0001c0001t0007g0122 a0003c0004t0009g0017 a0001c0001t0001g0058 a0001c0001t0007g0122 a0003c0004t0009g0017	3	234	0.0128	-127	c.581 others(19): Show c.581-22822_581-22696del	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TAF13_chr1_109059140_109081003	109072001	TATATATA others(120): Show TATATATATATATACACACACATATATATATATATATATATATACACACA CATATATATATATATATATATATATACACACACATATATATATATATATA TATATATATATATATACACACATATATA	T T	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	414	0.0024	-127	c.106 others(17): Show c.106+2859_106+2985del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TENM4_chr11_78647829_79446030	79190924	GTCTCCCT others(120): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0023 a0001c0006t0005g0023	1	94	0.0106	-127	c.-16 others(21): Show c.-163+24757_-163+24883del	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TET3_chr2_73979910_74113176	74061434	CCCTCCCG others(120): Show CCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTC CTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19083.hp2 NA18977.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0010t0004 a0001c0001t0004 a0001c0010t0004	a0001c0001t0004g0123 a0001c0010t0004g0166 a0001c0001t0004g0123 a0001c0010t0004g0166	2	252	0.0079	-127	c.249 others(21): Show c.2495-12092_2495-11966del	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX29_chr13_111315642_111349248	111326566	TGCTGGCG others(120): Show TGCTGGCGGGTGTCTGGTCGGGTGGAAGAGACTGCGGGCAGTGCGAGCCT GTCTGGTGGGGTGGAGGAGACCACGGGCAGTGCGAGCCTGTCTGGTGGGG TGGAGACTGCGGGCAACGTGAGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0254 a0001c0002t0003g0254	1	416	0.0024	-127	c.59- others(15): Show c.59-1599_59-1473del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TF_chr3_133741393_133801641	133785139	CGCCCGGC others(120): Show CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCC GCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0178 a0002c0002t0179 a0002c0002t0178 a0002c0002t0179	a0002c0002t0178g0040 a0002c0002t0179g0040 a0002c0002t0178g0040 a0002c0002t0179g0040	2	402	0.0050	-127	c.65 others(11): Show c.6536_*6662del	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17	6536	INFO_REALIGN_3_PRIME	chr3	TogoVar
TLK1_chr2_170985823_171165893	171165766	CCAGGCAT others(120): Show CCAGGCATGGTGGCGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATT GCACCACTGCACTCCAGCCTGGGCAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	266	0.0038	-127	c.-54 others(11): Show c.-5465_-5339del	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4874		chr2	TogoVar
TMC1_chr9_72516608_72843297	72840127	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCACCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	182	0.0055	-127	c.41 others(11): Show c.4155_*4281del	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding		1831		chr9	TogoVar
TRAF3_chr14_102772449_102916500	102812701	CGAGGTCA others(120): Show CGAGGTCAGGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCTGTCT TTACTAAAAATACGAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03209.hp2 others(1): Show HG02630.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0034 others(1): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0034 a0001c0003t0037	a0001c0003t0003g0182 a0001c0003t0005g0181 a0001c0003t0034g0003 others(1): Show a0001c0003t0003g0182 a0001c0003t0005g0181 a0001c0003t0034g0003 a0001c0003t0037g0004	4	296	0.0135	-127	c.-15 others(21): Show c.-156-17630_-156-17504del	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAFD1_chr12_112120560_112158604	112139230	GTCCCAGC others(120): Show GTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTCAAGGCTGCGGTAAGCCATGATCGTACCACTGCACTCCAGCCTGGGTG ACACTGAGATCCTGTCTCAAAAAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	346	0.0029	-127	c.238 others(17): Show c.238-1588_238-1462del	TRAFD1	ENSG00000135148.12	transcript	ENST00000412615.7	protein_coding	4/11			chr12	TogoVar
TRAPPC9_chr8_139722725_140462744	140157230	CTTTTCCA others(120): Show CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAG CCTCCCTTTTCCATTCAGAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	98	0.0102	-127	c.255 others(21): Show c.2556+64102_2556+64228del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(120): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG02071.hp1 others(11): Show HG00280.hp2 HG01243.hp1 HG02071.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02683.hp2 HG02965.hp1 HG02976.hp1 NA18979.hp2 NA18989.hp1 NA19011.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0001c0036 a0002c0035 a0003c0003 a0016c0020	a0001c0001t0001 a0001c0001t0027 a0001c0002t0020 others(9): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0020 a0001c0011t0006 a0001c0011t0009 a0001c0011t0033 a0001c0036t0048 a0002c0035t0035 a0003c0003t0001 a0003c0003t0003 a0003c0003t0037 a0016c0020t0008	a0001c0001t0001g0101 a0001c0001t0027g0015 a0001c0002t0020g0175 others(11): Show a0001c0001t0001g0101 a0001c0001t0027g0015 a0001c0002t0020g0175 a0001c0011t0006g0067 a0001c0011t0009g0128 a0001c0011t0033g0023 a0001c0036t0048g0130 a0002c0035t0035g0139 a0003c0003t0001g0054 a0003c0003t0001g0150 a0003c0003t0003g0056 a0003c0003t0003g0116 a0003c0003t0037g0050 a0016c0020t0008g0169	14	180	0.0778	-127	c.188 others(17): Show c.1884+759_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRIM4_chr7_99885403_99924530	99887966	GGGCGGCT others(120): Show GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	322	0.0031	-127	c.40 others(11): Show c.4070_*4196del	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2436		chr7	TogoVar
TRIM72_chr16_31209119_31236537	31232689	CGGCCAGC others(120): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCCGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGAGGGTCAGCCCCCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0065 a0001c0002t0063 a0001c0002t0065	a0001c0002t0063g0123 a0001c0002t0065g0052 a0001c0002t0063g0123 a0001c0002t0065g0052	2	312	0.0064	-127	c.79 others(11): Show c.7935_*8061del	TRIM72	ENSG00000177238.15	transcript	ENST00000322122.8	protein_coding		1153		chr16	TogoVar
TRPM2_chr21_44348621_44447644	44395684	GTGTGGAG others(120): Show GTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGA TGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGATG TGGAGGGGTGTGGAGGGCTGTGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0040 a0001c0008t0010g0040	1	44	0.0227	-127	c.193 others(17): Show c.1932+142_1932+268del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
TTC5_chr14_20281227_20310951	20310410	GGCCGCCC others(120): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0014 a0002c0004t0004g0014	1	416	0.0024	-127	c.-46 others(11): Show c.-4600_-4474del	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4460		chr14	TogoVar
TUBGCP3_chr13_112480011_112593153	112488585	GGGGGAGC others(120): Show GGGGGAGCGCAGGGGCCACCCCCAGGTCCCCACACCCACCACAGGGGAGC ACAGGGGTCACCCCCAGGTCCCCACATCCCACCACAGGGGAGCACAGGGG TCACCCCCAGGTCCCCACACCCACCACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02257.hp1 HG02630.hp1 others(2): Show HG01261.hp1 HG02257.hp1 HG02630.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0089 a0001c0001t0004g0090 others(2): Show a0001c0001t0004g0029 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0252 a0001c0001t0004g0253	5	312	0.0160	-127	c.256 others(17): Show c.2565+869_2565+995del	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	21/21			chr13	TogoVar
U2SURP_chr3_142996570_143065725	143047308	GCCGGGCA others(120): Show GCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGTGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACTGGGCGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0358 a0001c0001t0014g0359 a0001c0001t0014g0358 a0001c0001t0014g0359	2	378	0.0053	-127	c.254 others(19): Show c.2545-3624_2545-3498del	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UIMC1_chr5_176900006_177011779	176961606	CGCCCGGC others(120): Show CGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	330	0.0030	-127	c.120 others(19): Show c.1201-3579_1201-3453del	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14			chr5	TogoVar
UROC1_chr3_126476166_126522773	126516160	CCCCCTCC others(120): Show CCCCCTCCTCACCCCAGCACCCACCACCTATCCTCCCAACTCCCAGCACC CACCACCTACTGTCCCCTGCCCCCCAGCGCCCACCACCTACCCACCCCCT CATCACCCCAGCACCCACCACCTAATGT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02258.hp2 HG02486.hp2 others(11): Show HG01358.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG03209.hp2 HG03225.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19089.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0008 a0001c0010 others(5): Show a0001c0001 a0001c0008 a0001c0010 a0001c0011 a0002c0005 a0002c0029 a0008c0027 a0008c0028	a0001c0001t0002 a0001c0008t0003 a0001c0008t0005 others(9): Show a0001c0001t0002 a0001c0008t0003 a0001c0008t0005 a0001c0010t0009 a0001c0011t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0006 a0002c0005t0013 a0002c0029t0001 a0008c0027t0005 a0008c0028t0001	a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0008t0003g0062 others(11): Show a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0008t0003g0062 a0001c0008t0005g0064 a0001c0010t0009g0065 a0001c0011t0001g0063 a0002c0005t0002g0134 a0002c0005t0002g0142 a0002c0005t0003g0140 a0002c0005t0006g0138 a0002c0005t0013g0135 a0002c0029t0001g0141 a0008c0027t0005g0137 a0008c0028t0001g0136	14	380	0.0368	-127	c.126 others(17): Show c.126+1307_126+1433del	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UVSSA_chr4_1342208_1393049	1364067	GGGGGCCA others(120): Show GGGGGCCACCTCCCGGCAGGGTGCTGGTGCCCGGGCCCCGTGGCCTTGTG TGGCCTGGCTCCGTGGGGGCCACCTCCCGGCAGGGTGCTGGTGCCCGGGC CCCGTGGCCTTGTGTGGCCTGGCTCCGT	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0273 a0001c0004t0001g0273	1	400	0.0025	-127	c.117 others(19): Show c.1177-2248_1177-2122del	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VAPB_chr20_58384229_58456101	58414005	CCCGCCAC others(120): Show CCCGCCACCTCCCTCCCAGATAGGGCGGCTGGCCTGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGAGGCTGACG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp1 HG01516.hp2 others(15): Show HG01257.hp2 HG01261.hp1 HG01516.hp2 HG02074.hp1 HG02145.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG06807.hp2 NA19043.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 others(3): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 a0001c0001t0069 a0001c0001t0080 a0002c0002t0005	a0001c0001t0005g0012 a0001c0001t0005g0239 a0001c0001t0005g0244 others(15): Show a0001c0001t0005g0012 a0001c0001t0005g0239 a0001c0001t0005g0244 a0001c0001t0005g0245 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0356 a0001c0001t0018g0242 a0001c0001t0018g0246 a0001c0001t0018g0250 a0001c0001t0023g0240 a0001c0001t0023g0241 a0001c0001t0023g0266 a0001c0001t0069g0243 a0001c0001t0080g0254 a0002c0002t0005g0252 a0002c0002t0005g0253	18	370	0.0487	-127	c.59- others(15): Show c.59-4203_59-4077del	VAPB	ENSG00000124164.16	transcript	ENST00000475243.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
VEZT_chr12_95212807_95307799	95235295	ACCCACCT others(120): Show ACCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCTGGGCGGGAGGCTGACCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG01070.hp2 others(56): Show HG00140.hp2 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18968.hp1 NA18985.hp2 NA18998.hp2 NA19001.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19088.hp2 NA19240.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0004 a0009c0015 a0001c0001 a0003c0004 a0009c0015	a0001c0001t0001 a0003c0004t0001 a0009c0015t0001 a0001c0001t0001 a0003c0004t0001 a0009c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0019 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0110 a0003c0004t0001g0111 a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0118 a0009c0015t0001g0022	59	426	0.1385	-127	c.37- others(17): Show c.37-16543_37-16417del	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS54_chr2_63887150_64024428	64013546	GATATATA others(120): Show GATATATATATATGATATATATATCAGCATTTATATATAAATATATATCA ATATATATCATATGATATATATCAGCATTTATATATAAATATATATCAAT ATATAGATATATATTGATATATATATCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0012	1	304	0.0033	-127	c.-21 others(17): Show c.-21+5265_-21+5391del	VPS54	ENSG00000143952.20	transcript	ENST00000272322.9	protein_coding	1/22			chr2	TogoVar
XPO5_chr6_43517334_43581038	43580445	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCAACCTCCCTCCCGGACGGGGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA21309.hp2 HG02965.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0238 a0001c0002t0001g0058 a0001c0001t0007g0238 a0001c0002t0001g0058	2	246	0.0081	-127	c.-47 others(11): Show c.-4708_-4582del	XPO5	ENSG00000124571.18	transcript	ENST00000265351.12	protein_coding		4408		chr6	TogoVar
ZAN_chr7_100728595_100802797	100741585	GGACGGGG others(120): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0082 a0002c0082	a0002c0082t0001 a0002c0082t0001	a0002c0082t0001g0294 a0002c0082t0001g0294	1	308	0.0033	-127	c.766 others(17): Show c.766+2995_766+3121del	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZAN_chr7_100728595_100802797	100741668	TCTTCCCA others(120): Show TCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18952.hp1 NA18999.hp1 others(1): Show HG02074.hp2 NA18952.hp1 NA18999.hp1 NA19010.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0036 a0004c0051 a0001c0001 a0001c0036 a0004c0051	a0001c0001t0001 a0001c0036t0001 a0004c0051t0001 a0001c0001t0001 a0001c0036t0001 a0004c0051t0001	a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0036t0001g0123 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0177 a0001c0036t0001g0123 a0004c0051t0001g0165	4	308	0.0130	-127	c.766 others(17): Show c.766+3099_766+3225del	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF117_chr7_64966772_64996036	64967667	CCCCCCCC others(120): Show CCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGTCTGGCTGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02818.hp1 HG03130.hp1 others(1): Show HG01243.hp2 HG02818.hp1 HG03130.hp1 HG03471.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0164 a0005c0005t0014g0165 a0005c0005t0014g0166 others(1): Show a0005c0005t0014g0164 a0005c0005t0014g0165 a0005c0005t0014g0166 a0005c0005t0014g0167	4	444	0.0090	-127	c.10 others(13): Show c.10325_*10451del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		4104		chr7	TogoVar

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