Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SENP1_chr12_48037897_48111079	48056904	CATATTAC others(135): Show CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA ATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAAT ATATTACATATTACATATATAAATATATTATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00639.hp2 others(61): Show HG00140.hp1 HG00408.hp2 HG00639.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18953.hp2 NA18965.hp2 NA18968.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18984.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19075.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0025 a0005c0006t0005	a0001c0001t0003g0005 a0001c0001t0003g0161 a0001c0001t0003g0193 others(60): Show a0001c0001t0003g0005 a0001c0001t0003g0161 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0004g0236 a0001c0001t0004g0259 a0001c0001t0005g0195 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0229 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0270 a0001c0001t0007g0199 a0001c0001t0007g0260 a0001c0001t0007g0263 a0001c0001t0011g0228 a0001c0001t0011g0243 a0001c0001t0025g0237 a0005c0006t0005g0226	64	394	0.1624	-142	c.140 others(19): Show c.1407+6664_1407+6805del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SHISA9_chr16_12896598_13245416	12970327	ATATATAT others(135): Show ATATATATATATATATACATATATGTGTATATATATATATATACATATAT ATATACATATATGTATATATATATATACATATATATATATACACATATAT GTATATATATATACACACATATATATATACATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02280.hp2 others(1): Show HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0037 a0001c0001t0048 others(1): Show a0001c0001t0009 a0001c0001t0037 a0001c0001t0048 a0001c0001t0076	a0001c0001t0009g0214 a0001c0001t0037g0157 a0001c0001t0048g0057 others(1): Show a0001c0001t0009g0214 a0001c0001t0037g0157 a0001c0001t0048g0057 a0001c0001t0076g0108	4	214	0.0187	-142	c.691 others(19): Show c.691+53529_691+53670del	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9922394	AGTAAGTT others(135): Show AGTAAGTTCCAGAAAGCTCCTTTGTACTCTTTCCAATGAAACCCTGCCCC ACAACCATCCCTCCCTGATGTGTGACCCTAGTGAGTGTTGCCTCTTCTTG AGCTTCATGTAAACTGGACCCTACTTGTGCGTTCTTTGGCGGT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0021 a0021	a0021c0077 a0021c0077	a0021c0077t0002 a0021c0077t0002	a0021c0077t0002g0232 a0021c0077t0002g0232	1	256	0.0039	-142	c.289 others(19): Show c.2892-9780_2892-9639del	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9			chrX	TogoVar
SLC13A5_chr17_6679719_6718369	6692874	GTGGTGTA others(135): Show GTGGTGTAGAGTTCCTAGATGACAAGACAGAGTCCATGTCCTCAAGGAAT GTGCGGTTATACGAAGGATGCAGGCACAGAAACACACAAGCCCAGGGATG GAAGGGTGGAGAAACGCCACCCTCTTGACGAAGAAGAGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0390 a0001c0001t0015g0390	1	454	0.0022	-142	c.127 others(16): Show c.1275+28_1275+169del	SLC13A5	ENSG00000141485.17	transcript	ENST00000433363.7	protein_coding	9/11			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(135): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA20752.hp2 NA18990.hp1 NA20752.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0120 a0003c0001t0001g0134 a0003c0001t0001g0120 a0003c0001t0001g0134	2	324	0.0062	-142	c.-15 others(17): Show c.-15-8304_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(135): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG03471.hp2 HG02615.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0001c0001t0001 a0001c0001t0005 a0001c0001t0021	a0001c0001t0001g0126 a0001c0001t0005g0171 a0001c0001t0021g0127 a0001c0001t0001g0126 a0001c0001t0005g0171 a0001c0001t0021g0127	3	218	0.0138	-142	c.212 others(17): Show c.212-3450_212-3309del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168614544	GGCCTCTT others(135): Show GGCCTCTTCATACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACA CCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	180	0.0056	-142	c.907 others(17): Show c.907+6307_907+6448del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614830	GGCCTCTT others(135): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCA GCACAGGGGACCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACA CCTACAGCCAGCACAGTACCTCTTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	180	0.0056	-142	c.907 others(17): Show c.907+6593_907+6734del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNAPC4_chr9_136370571_136405170	136403279	GAGAAACA others(135): Show GAGAAACAGAAGGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGA GAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAA AGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(34): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG02015.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03831.hp2 HG03834.hp2 NA18942.hp2 NA18945.hp1 NA18954.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18988.hp1 NA19010.hp1 NA19054.hp1 NA19067.hp1 NA19070.hp2 NA19085.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp2	a0003 a0004 a0020 others(1): Show a0003 a0004 a0020 a0023	a0003c0029 a0004c0005 a0004c0007 others(3): Show a0003c0029 a0004c0005 a0004c0007 a0004c0030 a0020c0035 a0023c0026	a0003c0029t0002 a0004c0005t0002 a0004c0007t0002 others(3): Show a0003c0029t0002 a0004c0005t0002 a0004c0007t0002 a0004c0030t0002 a0020c0035t0002 a0023c0026t0002	a0003c0029t0002g0177 a0004c0005t0002g0007 a0004c0005t0002g0018 others(25): Show a0003c0029t0002g0177 a0004c0005t0002g0007 a0004c0005t0002g0018 a0004c0005t0002g0044 a0004c0005t0002g0045 a0004c0005t0002g0046 a0004c0005t0002g0176 a0004c0005t0002g0178 a0004c0005t0002g0179 a0004c0005t0002g0183 a0004c0005t0002g0184 a0004c0005t0002g0186 a0004c0005t0002g0187 a0004c0005t0002g0189 a0004c0005t0002g0191 a0004c0005t0002g0193 a0004c0005t0002g0194 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0007t0002g0185 a0004c0007t0002g0188 a0004c0007t0002g0190 a0004c0007t0002g0228 a0004c0007t0002g0229 a0004c0007t0002g0230 a0004c0030t0002g0195 a0020c0035t0002g0192 a0023c0026t0002g0180	37	380	0.0974	-142	c.-32 others(11): Show c.-3297_-3156del	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3110		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403298	AGGGAGCA others(135): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTTCCAG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0150 a0001c0004t0001g0150	1	380	0.0026	-142	c.-33 others(11): Show c.-3316_-3175del	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3129		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403327	GAGAAAGG others(135): Show GAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAA GGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0002 a0022c0034t0002	a0022c0034t0002g0156 a0022c0034t0002g0156	1	380	0.0026	-142	c.-33 others(11): Show c.-3345_-3204del	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3158		chr9	TogoVar
SNTG2_chr2_945849_1372613	1163306	TCCCAATA others(135): Show TCCCAATAGGAAGTGGGCATGGGAAGCCTCCCAACAGGAAGTGGGTGTGT GAAGTCTTCCCAACAGGAAGTGAGTGTGTGAAGCATCCCAGTAGGAAGCG GGCCTGTGAAGCCTCCCAACAGGAAGTAGGCACGTGAAGCCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02970.hp1 others(1): Show HG02451.hp2 HG02615.hp2 HG02970.hp1 HG03540.hp1	a0003 a0014 a0018 others(1): Show a0003 a0014 a0018 a0019	a0003c0026 a0014c0035 a0018c0023 others(1): Show a0003c0026 a0014c0035 a0018c0023 a0019c0025	a0003c0026t0001 a0014c0035t0001 a0018c0023t0001 others(1): Show a0003c0026t0001 a0014c0035t0001 a0018c0023t0001 a0019c0025t0001	a0003c0026t0001g0097 a0014c0035t0001g0071 a0018c0023t0001g0048 others(1): Show a0003c0026t0001g0097 a0014c0035t0001g0071 a0018c0023t0001g0048 a0019c0025t0001g0034	4	190	0.0211	-142	c.412 others(17): Show c.412-2239_412-2098del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157826853	TATAAATA others(135): Show TATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATACATATATATTATAGTTTATATAATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0054 a0002c0007t0007g0054	1	302	0.0033	-142	c.12+ others(15): Show c.12+3408_12+3549del	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7363429	TATCATCA others(135): Show TATCATCACCATCACCACCATTGTGGTGTATCACCATTACCATCACCGTC ACCATAACCATGCCTCACCATCATCATCACCATCACCACCATTGTGGTGT ATCACCATTACCATCACCGTCACCATAACCATGCCTCACCATC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0018 a0016c0019t0018	a0016c0019t0018g0027 a0016c0019t0018g0027	1	168	0.0060	-142	c.481 others(19): Show c.481-32338_481-32197del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837695	TAAGCTAT others(135): Show TAAGCTATATTTATATTTATATAATATATAAGCTATATTTATATTTATAT AATATATAAGCTATATTTATATTTATATAATATATAAGCTATATTTATAT TTATATAATATATAAGCTATATTTATATTTATATAATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0007 a0001c0001t0118g0007	1	212	0.0047	-142	c.481 others(17): Show c.481+8146_481+8287del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
STC2_chr5_173309723_173333414	173330523	GTGGCCTC others(135): Show GTGGCCTCTTTTGTAGGAGAGAACATGAGCAATATTGACATTAAGAAGGC ATCTGGTCACCTGTTTTTTTTTGAGAAGCAGAAATAGGAGAGAGCTCCAT GGGGCAGGAGCAAGCCCTCTTTTGCCAGATGCAGACACTTAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	448	0.0022	-142	c.-24 others(11): Show c.-2472_-2331del	STC2	ENSG00000113739.11	transcript	ENST00000265087.9	protein_coding		2110		chr5	TogoVar
TAF13_chr1_109059140_109081003	109071975	TACACACA others(135): Show TACACACATATATATATATATATATATATATATATATATACACACACATA TATATATATATATATATATACACACACATATATATATATATATATATATA TACACACACATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00597.hp2 others(20): Show HG00140.hp1 HG00408.hp2 HG00597.hp2 HG00733.hp2 HG00738.hp2 HG01175.hp2 HG01517.hp2 HG02027.hp1 HG02165.hp1 HG02647.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03540.hp1 NA18612.hp1 NA18939.hp1 NA18965.hp1 NA18967.hp2 NA19010.hp2 NA19012.hp1 NA19066.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0066 a0001c0001t0001g0149 a0001c0001t0002g0007 others(14): Show a0001c0001t0001g0066 a0001c0001t0001g0149 a0001c0001t0002g0007 a0001c0001t0002g0064 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0183 a0001c0001t0003g0031 a0001c0001t0003g0096 a0001c0001t0003g0197 a0001c0001t0006g0150 a0001c0001t0007g0024 a0001c0001t0014g0173 a0001c0002t0002g0147 a0001c0002t0003g0148	23	414	0.0556	-142	c.106 others(17): Show c.106+2870_106+3011del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TEX19_chr17_82354247_82368775	82359428	GTTCCCTA others(135): Show GTTCCCTAAGGTTCTCCAAGTTCCCTCAAATTTCCCTCAGTTTCCCTCAG GTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTTCCCTCA GTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0058 a0004c0006t0002g0058	1	380	0.0026	-142	c.-27 others(17): Show c.-272+150_-272+291del	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TEX19_chr17_82354247_82368775	82359885	GGGTTCCC others(135): Show GGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	380	0.0026	-142	c.-27 others(17): Show c.-272+618_-272+759del	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TM4SF19_chr3_196318547_196343388	196334916	TAGGAGAA others(135): Show TAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGG TGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGT GGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTA	T T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	370	0.0027	-142	c.-2+ others(15): Show c.-2+3206_-2+3347del	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM259_chr19_1004653_1026123	1020169	ACCTCAGC others(135): Show ACCTCAGCTAAGTCACATTCCCCTGAGGCTCAGGAGCGGGGAACGCAGCT GAAAGGCTACAAGGAGGGAGAGAGGGGAGTGGGGAGTCGACTTCCAGGAC AGGGGTTGGTCCGAGGGAGACCTGCGTCAGGCTGGGTTCTGGG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	430	0.0023	-142	c.225 others(15): Show c.225+461_225+602del	TMEM259	ENSG00000182087.14	transcript	ENST00000356663.8	protein_coding	1/10			chr19	TogoVar
TP73_chr1_3647516_3741201	3694118	GCCATGCA others(135): Show GCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCCTCCTCCCACAATCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	358	0.0028	-142	c.186 others(19): Show c.186+10976_186+11117del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF3IP2_chr6_111550381_111610878	111596205	TGATATAC others(135): Show TGATATACACAAATATCTAATAATCTCTTATTTGCTCATTGCCTCTCCCT TCTCCCAGAATATAAACTTCCTAAGGGTGCAATTTTCTCTTTTCTTTTTC TTTGTGATACGGGGGTCTTGCTCTGTCACCCAGGCTGGAGAGC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	316	0.0032	-142	c.-8- others(15): Show c.-8-4253_-8-4112del	TRAF3IP2	ENSG00000056972.21	transcript	ENST00000368761.11	protein_coding	1/8			chr6	TogoVar
TRIML1_chr4_188134441_188152743	188151681	AGAGAGGG others(135): Show AGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG AGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	228	0.0044	-142	c.43 others(11): Show c.4310_*4451del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3939		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152000	TTGAGAAG others(135): Show TTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGGGGTTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	228	0.0044	-142	c.46 others(11): Show c.4629_*4770del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4258		chr4	TogoVar
TSPAN9_chr12_3072379_3291559	3268255	CATTCCTG others(135): Show CATTCCTGCAGCCTGCCCTCTCTGTTCCTGCAGCCTGCCCCCTCTGTGTT CCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCC TGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0054 a0001c0001t0027g0054	1	288	0.0035	-142	c.64- others(17): Show c.64-10165_64-10024del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8			chr12	TogoVar
TULP4_chr6_158307465_158516828	158349496	GTGCTCCT others(135): Show GTGCTCCTCACCTCCCAGACGAAGGGTGGCCGGGCAGAGGCGCTCCTCAC ATCCCAGACGATGGGTGGCCGGGCAGAGGCGCTCCTCACCTCCCAGATAG GGTGGCAGCCGGGCAGAGGCGCCCCTCACTTCCCAGACGGGGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0080 a0001c0001t0078g0080	1	268	0.0037	-142	c.252 others(19): Show c.252+35229_252+35370del	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
VCX3B_chrX_8459830_8471510	8467129	AGGGAGGG others(135): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18906.hp2 HG02622.hp1 NA18906.hp2	a0014 a0021 a0014 a0021	a0014c0081 a0021c0021 a0014c0081 a0021c0021	a0014c0081t0001 a0021c0021t0001 a0014c0081t0001 a0021c0021t0001	a0014c0081t0001g0001 a0021c0021t0001g0014 a0014c0081t0001g0001 a0021c0021t0001g0014	2	271	0.0074	-142	c.74 others(9): Show c.747_*888del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		620		chrX	TogoVar
VPS53_chr17_503668_719839	595802	ATTTGATG others(135): Show ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA GGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCCCCTG GAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(7): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18955.hp2 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 others(5): Show a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0005t0080	a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 others(7): Show a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0005t0080g0092	10	232	0.0431	-142	c.121 others(19): Show c.1218+5851_1218+5992del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
WNT7B_chr22_45915366_45982162	45916151	ACGCAGGT others(135): Show ACGCAGGTCCAGCCGGCAAGTGGCCCCAGCTGTGGCTTCTTTGGCCCCAG CCGCTCGGACGGGGATGGTGTGCGCAGGTCCAGCCGGCAAGTGGCCCCAG CTGTGGCTTCTTTGGCCCCAGCAGCTCAGATGGGGATGGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	350	0.0029	-142	c.65 others(11): Show c.6563_*6704del	WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding		4214		chr22	TogoVar
WNT7B_chr22_45915366_45982162	45916210	CGGGGATG others(135): Show CGGGGATGGTGTGCGCAGGTCCAGCCGGCAAGTGGCCCCAGCTGTGGCTT CTTTGGCCCCAGCAGCTCAGATGGGGATGGTGTGCGCAGGTCCAGCCGGC AAGTGGCCCCAGCTGTGGCTTCTTTGGCCCCAGCAGCTCAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0225 a0001c0001t0020g0225	1	350	0.0029	-142	c.65 others(11): Show c.6504_*6645del	WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding		4155		chr22	TogoVar
ZNF365_chr10_62369369_62407450	62369791	TATATATA others(135): Show TATATATATGTCCCATATATATATATCTCATATATATGTCCCATATATAT ATATCTCATATATATGTCCCATATATATATATCTCATATATATGTCCCAT ATATATATATATCTCATATATATGTCCCATATATATATATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	350	0.0029	-142	c.-46 others(11): Show c.-4680_-4539del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370030	CATATATA others(135): Show CATATATATATATCTCATATATATGTCCCATATATATATATCTCATATAT ATGTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTC ATATATATGTCCCATATATATATATCTCATATATATGTCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA19076.hp2 NA20129.hp2 others(1): Show HG01993.hp2 NA19076.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0007 a0001c0001t0002 a0002c0002t0007	a0001c0001t0002g0016 a0001c0001t0002g0123 a0001c0001t0002g0164 others(1): Show a0001c0001t0002g0016 a0001c0001t0002g0123 a0001c0001t0002g0164 a0002c0002t0007g0156	4	350	0.0114	-142	c.-44 others(11): Show c.-4441_-4300del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4338		chr10	TogoVar
ZNF487_chr10_43432111_43488181	43465007	CCACCTCC others(135): Show CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	332	0.0030	-142	c.-93 others(19): Show c.-93-10712_-93-10571del	ZNF487	ENSG00000243660.12	transcript	ENST00000437590.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF713_chr7_55882456_55947225	55887713	AGGCGGAG others(135): Show AGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCG GGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGG GCGGCGGGCGGCGGGCGGCGGGCGGCGGGCGGCGGCGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03831.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03831.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 others(1): Show a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0013g0182	4	410	0.0098	-142	c.-58 others(16): Show c.-583+39_-583+180del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238571	CTCCCGGT others(134): Show CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	-141	c.136 others(19): Show c.1361+3419_1361+3559del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238896	CCTGCATC others(134): Show CCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	106	0.0094	-141	c.136 others(19): Show c.1361+3094_1361+3234del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGPAT5_chr8_6703642_6766503	6765794	AGGCGAGG others(134): Show AGGCGAGGAACTTTCACCCCAACCTTTGTGTCTCAAAACTGCCGTGATTC CTGGCACTGATTAGGCAATCAGCAACAGTTTGTTTAACTGATTCAGTAGG CATAATTTGAGATAACATTTTAGGGTTACCTCAATCATAGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	404	0.0025	-141	c.84 others(11): Show c.8407_*8547del	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		4292		chr8	TogoVar
AHDC1_chr1_27529245_27609144	27608845	TGTGTGTG others(134): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTG TACCTGGGGTGTGTGTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCT GGGGTATGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01070.hp2 HG01081.hp1 others(6): Show HG00621.hp1 HG01070.hp2 HG01081.hp1 HG01981.hp2 HG02135.hp1 HG02273.hp2 HG04199.hp2 NA18964.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001 a0001c0011t0001	a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0004g0030 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0004g0030 a0001c0002t0001g0048 a0001c0002t0001g0081 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0005t0001g0049 a0001c0011t0001g0154	9	180	0.0500	-141	c.-57 others(11): Show c.-5743_-5603del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4702		chr1	TogoVar
AKAP17A_chrX_1586604_1607520	1587659	TCCCCTCC others(134): Show TCCCCTCCCTTCCCCTCCTCTCCCTTCCCTTCCCCTCCCCTCCCCTCCCC TCCCTTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCTCCTCCCCTCCCTTCCCTTCCCCTCTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0120 a0002c0003t0010g0120	1	151	0.0066	-141	c.-41 others(11): Show c.-4129_-3989del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3944		chrX	TogoVar
ALDH1A3_chr15_100874831_100921626	100909048	CGCGTGCA others(134): Show CGCGTGCAAACCCACTGCAAACCCTCCACGCGTGCATGTAAACCCACTGC AAACCCCTCCGTGCGTGTGCAAACCCACTGCAAACCCCTCCACATGTGTG TGCAAACTCCTCAGTGTGTGAACCCACTGCAAACTCCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19063.hp2 NA18955.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0158 a0001c0001t0002g0161	2	414	0.0048	-141	c.146 others(17): Show c.1466+568_1466+708del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100909054	CAAACCCA others(134): Show CAAACCCACTGCAAACCCTCCACGCGTGCATGTAAACCCACTGCAAACCC CTCCGTGCGTGTGCAAACCCACTGCAAACCCCTCCACATGTGTGTGCAAA CTCCTCAGTGTGTGAACCCACTGCAAACTCCTCCGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18960.hp2 NA18966.hp2 others(1): Show NA18940.hp2 NA18960.hp2 NA18966.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0031 a0001c0001t0008g0083 a0001c0001t0034g0080 a0001c0001t0008g0031 a0001c0001t0008g0083 a0001c0001t0034g0080	4	414	0.0097	-141	c.146 others(17): Show c.1466+596_1466+736del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100909078	CGTGCATG others(134): Show CGTGCATGTAAACCCACTGCAAACCCCTCCGTGCGTGTGCAAACCCACTG CAAACCCCTCCACATGTGTGTGCAAACTCCTCAGTGTGTGAACCCACTGC AAACTCCTCCGTGTGTGTAAACCCACTGCAAACCCTCCACGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(250): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0003t0002 a0001c0003t0003 a0001c0005t0003 a0001c0006t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0020 a0002c0002t0022	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(164): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0152 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0245 a0001c0001t0008g0019 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0009g0040 a0001c0001t0009g0130 a0001c0001t0009g0217 a0001c0001t0011g0050 a0001c0001t0011g0204 a0001c0001t0012g0030 a0001c0001t0018g0057 a0001c0001t0018g0209 a0001c0001t0024g0009 a0001c0001t0025g0256 a0001c0001t0033g0035 a0001c0001t0035g0035 a0001c0001t0037g0151 a0001c0001t0038g0059 a0001c0003t0002g0049 a0001c0003t0003g0049 a0001c0005t0003g0193 a0001c0006t0003g0201 a0002c0002t0004g0006 a0002c0002t0004g0051 a0002c0002t0004g0104 a0002c0002t0004g0139 a0002c0002t0004g0159 a0002c0002t0004g0171 a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0216 a0002c0002t0004g0218 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0004g0225 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0004g0235 a0002c0002t0004g0237 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0005g0004 a0002c0002t0005g0046 a0002c0002t0005g0094 a0002c0002t0005g0105 a0002c0002t0005g0150 a0002c0002t0005g0155 a0002c0002t0005g0198 a0002c0002t0005g0240 a0002c0002t0005g0244 a0002c0002t0005g0249 a0002c0002t0007g0062 a0002c0002t0007g0067 a0002c0002t0007g0068 a0002c0002t0007g0069 a0002c0002t0007g0070 a0002c0002t0007g0071 a0002c0002t0007g0072 a0002c0002t0016g0242 a0002c0002t0020g0250 a0002c0002t0022g0236	253	414	0.6111	-141	c.146 others(17): Show c.1466+629_1466+769del	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGEF18_chr19_7343937_7477478	7362029	GAGAAGGA others(134): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp2 HG03471.hp1 others(3): Show HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA18945.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0017	a0001c0001 a0002c0004 a0007c0014 others(1): Show a0001c0001 a0002c0004 a0007c0014 a0017c0051	a0001c0001t0002 a0001c0001t0004 a0002c0004t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0002c0004t0002 a0007c0014t0004 a0017c0051t0006	a0001c0001t0002g0202 a0001c0001t0004g0048 a0001c0001t0004g0049 others(3): Show a0001c0001t0002g0202 a0001c0001t0004g0048 a0001c0001t0004g0049 a0002c0004t0002g0050 a0007c0014t0004g0051 a0017c0051t0006g0256	6	298	0.0201	-141	c.-11 others(17): Show c.-110-740_-110-600del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
BLM_chr15_90712346_90821166	90819208	TGGTTCCA others(134): Show TGGTTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGG TTCCACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCGGGATC CACGGCCCCACAGAGGGTTCGGTGACGCCTGGGAAGGTGCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(76): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0019 others(3): Show a0001c0001 a0001c0002 a0001c0019 a0001c0022 a0001c0024 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0019t0001 a0001c0022t0001 a0001c0024t0002 a0002c0005t0001 a0002c0005t0010	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 others(76): Show a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0196 a0001c0002t0001g0260 a0001c0019t0001g0109 a0001c0022t0001g0217 a0001c0024t0002g0210 a0002c0005t0001g0058 a0002c0005t0001g0138 a0002c0005t0010g0182	79	280	0.2821	-141	c.39 others(11): Show c.3930_*4070del	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding		3043		chr15	TogoVar
BRD1_chr22_49768283_49832873	49802366	GGGGGCCG others(134): Show GGGGGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGG GGCCGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGC CGAGACCAATGCCTCCACTCTCTTCCATTCCCCAACATCGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02886.hp2 HG03209.hp2 others(4): Show HG01255.hp2 HG02886.hp2 HG03209.hp2 HG03540.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0004t0001g0201	7	258	0.0271	-141	c.152 others(19): Show c.1524+1697_1524+1837del	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1431109	GGGTCTGG others(134): Show GGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02165.hp2 others(2): Show HG00544.hp2 HG02040.hp2 HG02165.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 others(2): Show a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 a0002c0002t0056g0337	5	360	0.0139	-141	c.92- others(15): Show c.92-4904_92-4764del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432505	TCAGCAGT others(134): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 NA18980.hp1 others(1): Show HG00544.hp2 HG02040.hp2 NA18980.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0020 a0002c0002t0056 a0002c0002t0002 a0002c0002t0020 a0002c0002t0056	a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 others(1): Show a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0020g0156 a0002c0002t0056g0337	4	360	0.0111	-141	c.92- others(15): Show c.92-3300_92-3160del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432940	GTCTTCTG others(134): Show GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18964.hp2 NA18952.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0089 a0001c0001t0011g0295 a0001c0001t0001g0089 a0001c0001t0011g0295	2	360	0.0056	-141	c.92- others(15): Show c.92-3020_92-2880del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSPH1_chr19_47963046_47997170	47992784	GCTTTGGG others(134): Show GCTTTGGGAGGTTAAGGTAGGGGGATCGTTTGCAACCAGGAGTTTGAGAC CAGCCTGGGAAACATAATGAGACCCCCCATCTCTACAAAAAAAAAATTGA CGAATTAGCCGAGCATGGTGGCATGTGCCTGTTGTCCCAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	444	0.0023	-141	c.-84 others(9): Show c.-844_-704del	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding		615		chr19	TogoVar

Search by Variant

Search

Search Results