Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
SLC9A8_chr20_49807828_49897242	49884288	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	360	0.0028	47	c.149 others(64): Show c.1491+222_1491+223insACACACACACACACACACACACACACAC ACACACACACACACACACA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(40): Show TAGATAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0155 a0002c0003t0009g0155	1	190	0.0053	47	c.647 others(66): Show c.647-78627_647-78626insAGATAGATAGATAGATGATAGATAGA TTGATTGATTAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(40): Show TAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0159 a0001c0001t0056g0159	1	190	0.0053	47	c.647 others(66): Show c.647-78627_647-78626insAGATAGATAGATGATAGATAGATTGA TTGATTAGATAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	386	0.0026	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	386	0.0026	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18953.hp1 HG02015.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0335 a0001c0001t0002g0283 a0001c0001t0002g0335	2	386	0.0052	47	c.299 others(66): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTGTT TTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850239	T T	TTATATAT others(40): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01109.hp1 others(35): Show HG00544.hp1 HG00609.hp1 HG01109.hp1 HG01257.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG04228.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 others(27): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0225 a0001c0001t0226 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0001t0236 a0001c0001t0237 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241	a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0170 others(35): Show a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0170 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0028g0138 a0001c0001t0029g0133 a0001c0001t0029g0161 a0001c0001t0030g0134 a0001c0001t0030g0135 a0001c0001t0031g0002 a0001c0001t0212g0167 a0001c0001t0213g0128 a0001c0001t0214g0123 a0001c0001t0216g0157 a0001c0001t0217g0131 a0001c0001t0218g0171 a0001c0001t0219g0139 a0001c0001t0220g0151 a0001c0001t0221g0127 a0001c0001t0222g0169 a0001c0001t0223g0155 a0001c0001t0225g0152 a0001c0001t0226g0154 a0001c0001t0229g0136 a0001c0001t0230g0153 a0001c0001t0231g0147 a0001c0001t0232g0129 a0001c0001t0236g0159 a0001c0001t0237g0143 a0001c0001t0238g0165 a0001c0001t0239g0142 a0001c0001t0240g0163 a0001c0001t0241g0137	38	310	0.1226	47	c.784 others(64): Show c.784+1034_784+1035insTATAATATATAATATATATTATACATAA TATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850474	T T	TAATATAT others(40): Show TAATATATGTTATATATATAATATATATTATGTATAATATATGTTATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03942.hp2 HG02015.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0219 a0001c0001t0246 a0001c0001t0219 a0001c0001t0246	a0001c0001t0219g0139 a0001c0001t0246g0126 a0001c0001t0219g0139 a0001c0001t0246g0126	2	310	0.0065	47	c.784 others(62): Show c.784+799_784+800insTATAACATATATTATACATAATATATATTA TATATATAACATATATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	245992654	G G	GGTCATGG others(40): Show GGTCATGGATCGGCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	150	0.0067	47	c.532 others(66): Show c.532-62718_532-62717insTACTCCAGGCCCCATGACCGCCATTC TAGAAGTGGCCGATCCATGAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245992713	C C	CCCACTTC others(40): Show CCCACTTCTAGAATGGCGGTCATGGGGCCTGGAGTGGTCATGGATCGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp2 others(38): Show HG00140.hp2 HG00423.hp2 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp2 NA18963.hp1 NA18965.hp2 NA18984.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0018 others(38): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0002g0023 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0002t0001g0012 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0053 a0001c0002t0001g0073 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0006t0001g0022 a0001c0006t0001g0035 a0001c0006t0001g0076 a0001c0009t0001g0002 a0001c0011t0002g0049 a0001c0014t0002g0091 a0002c0003t0001g0112 a0002c0003t0002g0104 a0002c0003t0002g0110 a0002c0003t0002g0114 a0002c0003t0002g0130 a0002c0003t0002g0147 a0002c0004t0001g0113 a0002c0005t0001g0136 a0002c0005t0001g0138 a0002c0005t0002g0106 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122	41	150	0.2733	47	c.532 others(66): Show c.532-62823_532-62777dupCCGATCCATGACCACTCCAGGCCCCA TGACCGCCATTCTAGAAGTGG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246378822	T T	TATATATT others(40): Show TATATATTATATATAATTATATATAATATATTTATATAGTATATATAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	150	0.0067	47	c.165 others(66): Show c.165-23729_165-23728insTTATATATACTATATAAATATATTAT ATATAATTATATATAATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478334	C C	CACATAAG others(40): Show CACATAAGTGCTCATATATGCACACCTGTCCTCTGTCCTGGAGCTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(63): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03491.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA19000.hp2 NA19057.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0003c0010 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0003c0010t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(63): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0079 a0001c0002t0002g0037 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0025 a0001c0006t0001g0076 a0001c0009t0001g0002 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0003c0010t0001g0031 a0004c0013t0002g0072 a0005c0015t0002g0094	66	150	0.4400	47	c.164 others(66): Show c.164+28673_164+28719dupACCAGCTCCAGGACAGAGGACAGGTG TGCATATATGAGCACTTATGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478461	T T	TGTCCTGG others(40): Show TGTCCTGGAGCTGGTACATAAGTGCTCATATATGCACACCTGTCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	150	0.0067	47	c.164 others(66): Show c.164+28592_164+28593insGGAGGACAGGTGTGCATATATGAGCA CTTATGTACCAGCTCCAGGAC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246478792	C C	CCTGGAGC others(40): Show CCTGGAGCTGGTACGTAAGTGCTCATATATGCACACCTGTCCTCCGTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	150	0.0067	47	c.164 others(66): Show c.164+28261_164+28262insAACGGAGGACAGGTGTGCATATATGA GCACTTACGTACCAGCTCCAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGAAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	380	0.0026	47	c.-31 others(58): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTTCCTGGGACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(114): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG03041.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0010 a0011 a0012 a0013 a0024 a0027 a0028 a0031	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0044 a0003c0056 a0004c0007 a0005c0008 a0010c0020 a0011c0018 a0012c0019 a0013c0017 a0024c0053 a0027c0050 a0028c0049 a0031c0051	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0044t0001 a0003c0056t0002 a0004c0007t0002 a0005c0008t0001 a0010c0020t0001 a0011c0018t0001 a0012c0019t0001 a0013c0017t0001 a0024c0053t0001 a0027c0050t0001 a0028c0049t0001 a0031c0051t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0007g0272 a0001c0004t0001g0004 a0001c0004t0001g0012 a0001c0004t0001g0064 a0001c0004t0001g0094 a0001c0006t0001g0009 a0001c0006t0001g0014 a0001c0006t0001g0026 a0001c0006t0001g0033 a0001c0006t0001g0040 a0001c0006t0001g0062 a0001c0006t0001g0063 a0001c0006t0001g0065 a0001c0006t0001g0082 a0001c0006t0001g0083 a0001c0006t0001g0088 a0001c0006t0001g0089 a0001c0006t0001g0114 a0001c0006t0001g0123 a0001c0006t0001g0144 a0001c0010t0001g0013 a0001c0010t0001g0118 a0001c0044t0001g0171 a0003c0056t0002g0137 a0004c0007t0002g0268 a0005c0008t0001g0032 a0005c0008t0001g0056 a0005c0008t0001g0126 a0010c0020t0001g0041 a0011c0018t0001g0104 a0011c0018t0001g0138 a0012c0019t0001g0072 a0012c0019t0001g0076 a0013c0017t0001g0036 a0024c0053t0001g0109 a0027c0050t0001g0152 a0028c0049t0001g0168 a0031c0051t0001g0101	117	380	0.3079	47	c.-31 others(58): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	380	0.0026	47	c.-32 others(58): Show c.-3245_-3199dupGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403393	A A	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	380	0.0026	47	c.-33 others(58): Show c.-3316_-3270dupAGGAACCCTGTCCCTTTCTTCCCCGGCAAACCCC ACCCCTTGCTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3224		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403464	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0107 a0008c0013t0001g0107	1	380	0.0026	47	c.-33 others(58): Show c.-3341_-3340insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3295		chr9	TogoVar
SNED1_chr2_240993618_241100568	241036053	T T	TGCGTCAC others(40): Show TGCGTCACGGGGTGGGGGTTGGGTGGAGGTGCGTCACGGGGTGGGGGC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0002 a0003c0004t0006g0002	1	344	0.0029	47	c.806 others(62): Show c.806-730_806-729insGGGGTGGGGGTTGGGTGGAGGTGCGTCACG GGGTGGGGGCGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRNP200_chr2_96269338_96310546	96273263	G G	GGCTCAAA others(40): Show GGCTCAAAGATTGATTCAAAAGTGTAAGACAGGCCAGTGGATTTTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	352	0.0028	47	c.17 others(58): Show c.1702_*1748dupATTAAAATCCACTGGCCTGTCTTACACTTTTGAA TCAATCTTTGAGC	SNRNP200	ENSG00000144028.15	transcript	ENST00000323853.10	protein_coding		1074		chr2	TogoVar
SNRNP27_chr2_69888956_69910236	69889101	C C	CAATGGTC others(40): Show CAATGGTCTATATTTTGCTCATACCCTCTACCTTTTACTGGCATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	440	0.0023	47	c.-48 others(58): Show c.-4884_-4883insAATGGTCTATATTTTGCTCATACCCTCTACCTTT TACTGGCATTTTT	SNRNP27	ENSG00000124380.11	transcript	ENST00000244227.8	protein_coding		4854		chr2	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(40): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04115.hp2 HG02109.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0018 a0001c0001t0027g0070 a0001c0001t0005g0018 a0001c0001t0027g0070	2	106	0.0189	47	c.-10 others(68): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50570252	T T	TTTTATTT others(40): Show TTTTATTTTATTTTATTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG02622.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0043 a0002c0003t0018 a0002c0003t0043	a0002c0003t0018g0045 a0002c0003t0043g0050 a0002c0003t0018g0045 a0002c0003t0043g0050	2	106	0.0189	47	c.810 others(66): Show c.810+17089_810+17090insATTTTATTTTATTTTATTTTATTTTA TTTTATTTATTTTATTTTATT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701618	C C	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	106	0.0094	47	c.103 others(66): Show c.1039-2982_1039-2981insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18			chr8	TogoVar
SNTG2_chr2_945849_1372613	1111789	G G	GATCGTGT others(40): Show GATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	47	c.325 others(66): Show c.325+13411_325+13457dupCAGTCCTTTGAGAAGAATCGTGTGTA CTAAGTGAGGTTTAACCCTTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1113151	G G	GATCTTTT others(40): Show GATCTTTTGTACTAAGTGAGGCTTAACCCTTATAGTCCTTTGAGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(128): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19030.hp2 NA19043.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0023	a0001c0001 a0001c0002 a0002c0003 others(28): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0007c0016 a0007c0017 a0007c0024 a0008c0011 a0009c0013 a0009c0029 a0010c0012 a0011c0018 a0012c0019 a0013c0020 a0014c0035 a0016c0034 a0017c0031 a0019c0025 a0020c0032 a0021c0030 a0023c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(35): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0008t0002 a0003c0026t0001 a0004c0004t0001 a0004c0004t0002 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0008c0011t0001 a0009c0013t0001 a0009c0029t0001 a0010c0012t0001 a0011c0018t0001 a0012c0019t0001 a0013c0020t0001 a0014c0035t0001 a0016c0034t0001 a0017c0031t0001 a0019c0025t0001 a0020c0032t0001 a0021c0030t0001 a0023c0027t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(128): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0120 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0084 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0002g0002 a0001c0002t0002g0076 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0064 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0165 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0003c0007t0001g0018 a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0002g0077 a0003c0008t0001g0044 a0003c0008t0001g0060 a0003c0008t0001g0095 a0003c0008t0001g0106 a0003c0008t0002g0072 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0116 a0004c0004t0001g0134 a0004c0004t0001g0144 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0002g0074 a0004c0014t0001g0036 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0002g0003 a0005c0015t0001g0037 a0005c0015t0001g0153 a0006c0009t0001g0011 a0006c0009t0001g0049 a0006c0009t0001g0050 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0009t0001g0163 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0012 a0006c0028t0001g0117 a0007c0016t0001g0033 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0008c0011t0001g0004 a0008c0011t0001g0128 a0008c0011t0001g0188 a0009c0013t0001g0132 a0009c0013t0001g0164 a0009c0029t0001g0152 a0010c0012t0001g0066 a0010c0012t0001g0096 a0010c0012t0001g0147 a0010c0012t0001g0166 a0011c0018t0001g0045 a0011c0018t0001g0046 a0012c0019t0001g0122 a0012c0019t0001g0159 a0013c0020t0001g0142 a0013c0020t0001g0143 a0014c0035t0001g0071 a0016c0034t0001g0146 a0017c0031t0001g0110 a0019c0025t0001g0034 a0020c0032t0001g0059 a0021c0030t0001g0160 a0023c0027t0001g0127	131	190	0.6895	47	c.325 others(66): Show c.325+14744_325+14745insTTTTGTACTAAGTGAGGCTTAACCCT TATAGTCCTTTGAGGAGAATC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1113151	G G	GATCTTTT others(40): Show GATCTTTTGTACTAAGTGAGGCTTAACCCTTGTAGTCCTTTGAGGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0068 a0003c0007t0001g0068	1	190	0.0053	47	c.325 others(66): Show c.325+14744_325+14745insTTTTGTACTAAGTGAGGCTTAACCCT TGTAGTCCTTTGAGGAGAATC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1113151	G G	GATCTTTT others(40): Show GATCTTTTGTACTAAGTGAGGCTTAACCGTTATAGTCCTTTGAGGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	190	0.0053	47	c.325 others(66): Show c.325+14744_325+14745insTTTTGTACTAAGTGAGGCTTAACCGT TATAGTCCTTTGAGGAGAATC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1113613	G G	GTGTGTAC others(40): Show GTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGGAGGATCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	190	0.0053	47	c.325 others(66): Show c.325+15253_325+15299dupTGTACTAAGTGAGGTTTAACCCTTAC AGTCCTTTGAGGAGGATCATG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX18_chr5_54512759_54551586	54513747	T T	TTATATAA others(40): Show TTATATAAATTTATTATTATATAATATATAATATATAAATATATATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0079 a0001c0016t0002g0079	1	390	0.0026	47	c.-42 others(58): Show c.-4206_-4205insTATATAAATTTATTATTATATAATATATAATATA TAAATATATATGA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4011		chr5	TogoVar
SNX25_chr4_185204598_185368966	185342621	T T	TACAAGGG others(40): Show TACAAGGGAGGCATTAAGGCGCGGTGCTTGGAGGATTCTGTCACATAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02145.hp1 HG02257.hp2 others(12): Show HG00621.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 NA18942.hp2 NA18964.hp2 NA18973.hp1 NA18994.hp1 NA19070.hp2 NA19080.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0221 a0001c0001t0001g0244 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0271 a0002c0002t0001g0272	15	276	0.0544	47	c.218 others(64): Show c.2187+544_2187+590dupGTCACATACACAAGGGAGGCATTAAGGC GCGGTGCTTGGAGGATTCT	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	302	0.0033	47	c.949 others(64): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(40): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0271 a0001c0003t0003g0271	1	302	0.0033	47	c.949 others(64): Show c.949+5616_949+5617insAAAAAAAAATATATATATATATATATAT ATATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0272 a0001c0003t0003g0272	1	302	0.0033	47	c.949 others(64): Show c.949+5616_949+5617insAAAAAAATATATATATATATATATATAT ATATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAT others(40): Show AAAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0265 a0001c0003t0003g0265	1	302	0.0033	47	c.949 others(64): Show c.949+5616_949+5617insAAAAATATATATATATATATATATATAT ATATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0040 a0001c0014t0034g0040	1	168	0.0060	47	c.481 others(66): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(40): Show TATACACATATAATATATGATATATATCATATACACATATAATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0078 a0001c0002t0007g0078	1	134	0.0075	47	c.627 others(66): Show c.627+54402_627+54403insCACATATAATATATGATATATATCAT ATACACATATAATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX5_chr12_23524504_23954670	23603445	A A	AATATATA others(40): Show AATATATATATATATATATATAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0136 a0001c0001t0061g0136	1	212	0.0047	47	c.116 others(64): Show c.1164+941_1164+942insATATATATATATATATATATATATTTTA TATATATATATATATATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SPATA13_chr13_24155720_24312069	24309306	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0118 a0002c0007t0118	a0002c0007t0118g0283 a0002c0007t0118g0283	1	356	0.0028	47	c.65 others(58): Show c.6533_*6534insATATATATATATATATATATATATATATATATAT ATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2238		chr13	TogoVar
SPESP1_chr15_68925525_68951811	68932248	A A	AGAAGACT others(40): Show AGAAGACTGCAGGACTCTTTCCTGAGGGGGACTTACAGGACTTCTTAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	402	0.0025	47	c.64+ others(62): Show c.64+1533_64+1534insAGACTGCAGGACTCTTTCCTGAGGGGGACT TACAGGACTTCTTAGGA	SPESP1	ENSG00000258484.4	transcript	ENST00000310673.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPG7_chr16_89503403_89562766	89536469	G G	GGGTGAGG others(40): Show GGGTGAGGCGGGTGAGGCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02965.hp2 HG01891.hp2 HG02109.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0019 a0001c0001 a0001c0013 a0001c0019	a0001c0001t0001 a0001c0013t0003 a0001c0019t0003 a0001c0001t0001 a0001c0013t0003 a0001c0019t0003	a0001c0001t0001g0218 a0001c0013t0003g0340 a0001c0019t0003g0217 a0001c0001t0001g0218 a0001c0013t0003g0340 a0001c0019t0003g0217	3	358	0.0084	47	c.132 others(66): Show c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGA GGCCAGGTGAGGCGGGTGAGG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536520	C C	CAGGTGAG others(40): Show CAGGTGAGGCAGGTGAGGTGAGGCGGGTGAGGTCAGGTGAGGCAGGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19009.hp2 HG01074.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0141 a0001c0006t0001g0057 a0001c0001t0001g0141 a0001c0006t0001g0057	2	358	0.0056	47	c.132 others(66): Show c.1324+3893_1324+3894insAGGTGAGGTGAGGCGGGTGAGGTCAG GTGAGGCAGGTGAGGTGAGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04199.hp1 HG00733.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0347 a0001c0001t0001g0219 a0001c0001t0001g0347	2	356	0.0056	47	c.180 others(64): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0073 a0013c0020t0001g0073	1	356	0.0028	47	c.180 others(64): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCK3_chr4_166728384_167239494	166969513	A A	ATTAAATG others(40): Show ATTAAATGTGTTTAAATGTGTTTAACACTTTTAACACATTAAATGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02683.hp1 HG02895.hp2 HG01884.hp2 HG02683.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0002g0103 a0001c0001t0003g0133 a0001c0003t0001g0080 a0001c0001t0002g0103 a0001c0001t0003g0133 a0001c0003t0001g0080	3	144	0.0208	47	c.350 others(66): Show c.350+30835_350+30836insACACATTTAATGTGTTAAAAGTGTTA AACACATTTAAACACATTTAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPON2_chr4_1161932_1177583	1165267	G G	GGGGGCCC others(40): Show GGGGGCCCCAGAGACTTCTGTGATGGCACCCACGTCAACACATGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp2 HG02027.hp2 others(1): Show HG00609.hp1 HG01975.hp2 HG02027.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 a0001c0001t0001 a0002c0002t0001 a0002c0003t0002	a0001c0001t0001g0001 a0002c0002t0001g0003 a0002c0003t0002g0005 a0001c0001t0001g0001 a0002c0002t0001g0003 a0002c0003t0002g0005	4	432	0.0093	47	c.22 others(58): Show c.2204_*2205insAGGGCATGTGTTGACGTGGGTGCCATCACAGAAG TCTCTGGGGCCCC	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		1664		chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347348	C C	CTCCTTCT others(40): Show CTCCTTCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCCGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	414	0.0024	47	c.135 others(66): Show c.1354+2020_1354+2021insCTTCTCTCCACACACACTCACGCGCT CTCATTCGCCTGATTCCGTTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRED2_chr2_65305851_65437599	65315125	A A	ACCCAGGG others(40): Show ACCCAGGGCCTCTCAGTGGAGGCAGAGAACTGAGACTTCTTGCTTTCG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02723.hp1 others(6): Show HG01123.hp2 HG02055.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0001t0002 a0001c0001t0003 a0001c0003t0003	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0003g0166 a0001c0003t0003g0222 a0001c0003t0003g0224 a0001c0003t0003g0225	9	276	0.0326	47	c.589 others(63): Show c.589-1003_589-957dupCGAAAGCAAGAAGTCTCAGTTCTCTGCCT CCACTGAGAGGCCCTGGG	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	5/5			chr2	TogoVar
SPTA1_chr1_158605704_158691715	158670652	A A	AGGGAGGG others(40): Show AGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGAAAAGGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	370	0.0027	47	c.159 others(64): Show c.1599+690_1599+691insCCCCCTTTTCTCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCTCCC	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	12/51			chr1	TogoVar

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