Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC6A18_chr5_1220381_1251189	1223559	CACGGACA others(65): Show CACGGACAGGTCACCTCCGCTTTGCACGGAAGAATCTGGATGCTTACATT AAACTGGTGTTCTGAGAGTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01167.hp2 others(6): Show HG01071.hp1 HG01074.hp1 HG01167.hp2 HG01981.hp1 HG02148.hp2 HG04184.hp2 NA18946.hp2 NA18950.hp1 NA19060.hp2	a0001 a0007 a0015 others(1): Show a0001 a0007 a0015 a0017	a0001c0002 a0007c0007 a0015c0024 others(1): Show a0001c0002 a0007c0007 a0015c0024 a0017c0039	a0001c0002t0001 a0001c0002t0002 a0007c0007t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0007c0007t0002 a0015c0024t0002 a0017c0039t0001	a0001c0002t0001g0057 a0001c0002t0002g0015 a0001c0002t0002g0017 others(6): Show a0001c0002t0001g0057 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0078 a0007c0007t0002g0049 a0007c0007t0002g0070 a0007c0007t0002g0073 a0015c0024t0002g0011 a0017c0039t0001g0060	9	456	0.0197	-72	c.-19 others(83): Show c.-1918_-1847delACGGACAGGTCACCTCCGCTTTGCACGGAAGAAT CTGGATGCTTACATTAAACTGGTGTTCTGAGAGTTCCT		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding					1821		chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1223648	CGCTTTGC others(65): Show CGCTTTGCATGGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGA GTTCCTACGGACAGGTCACCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(56): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02080.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02922.hp2 HG03017.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18969.hp2 NA18972.hp2 NA18979.hp1 NA18983.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp2 NA19004.hp2 NA19056.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0015 a0019	a0001c0002 a0001c0016 a0002c0001 others(5): Show a0001c0002 a0001c0016 a0002c0001 a0003c0004 a0007c0007 a0009c0011 a0015c0024 a0019c0034	a0001c0002t0001 a0001c0002t0002 a0001c0016t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0016t0001 a0002c0001t0001 a0002c0001t0002 a0003c0004t0001 a0007c0007t0002 a0009c0011t0001 a0015c0024t0002 a0019c0034t0001	a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0062 others(49): Show a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0075 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0016t0001g0069 a0002c0001t0001g0048 a0002c0001t0001g0050 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0088 a0002c0001t0001g0096 a0002c0001t0002g0058 a0003c0004t0001g0016 a0003c0004t0001g0083 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0014 a0007c0007t0002g0072 a0007c0007t0002g0074 a0007c0007t0002g0084 a0009c0011t0001g0052 a0015c0024t0002g0011 a0019c0034t0001g0054	59	456	0.1294	-72	c.-18 others(83): Show c.-1829_-1758delGCTTTGCATGGAAGAATCTGGATGCTTACATTAA ACTGGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCT		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding					1732		chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1223671	TGCTTACA others(65): Show TGCTTACATTAAACTGGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCT GCTTTCCATAGAAGAATCTGGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(7): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02258.hp1 HG02486.hp1 HG02976.hp2 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2	a0001 a0003 a0011 others(2): Show a0001 a0003 a0011 a0014 a0018	a0001c0029 a0003c0010 a0003c0027 others(3): Show a0001c0029 a0003c0010 a0003c0027 a0011c0019 a0014c0023 a0018c0030	a0001c0029t0002 a0003c0010t0001 a0003c0027t0001 others(4): Show a0001c0029t0002 a0003c0010t0001 a0003c0027t0001 a0011c0019t0001 a0011c0019t0002 a0014c0023t0001 a0018c0030t0001	a0001c0029t0002g0276 a0003c0010t0001g0274 a0003c0010t0001g0275 others(7): Show a0001c0029t0002g0276 a0003c0010t0001g0274 a0003c0010t0001g0275 a0003c0027t0001g0277 a0011c0019t0001g0271 a0011c0019t0001g0279 a0011c0019t0002g0270 a0014c0023t0001g0272 a0014c0023t0001g0273 a0018c0030t0001g0278	10	456	0.0219	-72	c.-18 others(83): Show c.-1806_-1735delGCTTACATTAAACTGGTGTTCTGAGAGTTCCTAC GGACAGGTCACCTCTGCTTTCCATAGAAGAATCTGGAC		SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding					1709		chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1223559	CACGGACA others(65): Show CACGGACAGGTCACCTCCGCTTTGCACGGAAGAATCTGGATGCTTACATT AAACTGGTGTTCTGAGAGTTCCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01074.hp2 others(11): Show HG00639.hp2 HG01071.hp2 HG01074.hp2 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp2 HG04184.hp1 NA18941.hp2 NA19004.hp1 NA19060.hp2 NA19064.hp2 NA19079.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0086 a0001c0001t0003g0089 others(9): Show a0001c0001t0003g0010 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0105 a0001c0001t0003g0184 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0263 a0001c0001t0003g0283 a0001c0001t0003g0316 a0001c0001t0003g0331 a0001c0001t0003g0339	14	458	0.0306	-72	c.16 others(83): Show c.1681_*1752delCGGAAGAATCTGGATGCTTACATTAAACTGGTGT TCTGAGAGTTCCTACGGACAGGTCACCTCCGCTTTGCA		SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	12/12				1681	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1223648	CGCTTTGC others(65): Show CGCTTTGCATGGAAGAATCTGGATGCTTACATTAAACTGGTGTTCTGAGA GTTCCTACGGACAGGTCACCTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01099.hp2 others(45): Show HG00639.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02080.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02922.hp2 HG03017.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18987.hp2 NA19003.hp2 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0003c0007 a0013c0026	a0001c0001t0003 a0001c0002t0003 a0001c0002t0022 others(7): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0022 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0008t0003 a0002c0003t0003 a0003c0007t0003 a0013c0026t0003	a0001c0001t0003g0117 a0001c0001t0003g0135 a0001c0001t0003g0209 others(32): Show a0001c0001t0003g0117 a0001c0001t0003g0135 a0001c0001t0003g0209 a0001c0001t0003g0217 a0001c0001t0003g0321 a0001c0002t0003g0001 a0001c0002t0003g0013 a0001c0002t0003g0015 a0001c0002t0003g0033 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0044 a0001c0002t0003g0053 a0001c0002t0003g0093 a0001c0002t0003g0121 a0001c0002t0003g0222 a0001c0002t0003g0226 a0001c0002t0003g0257 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0291 a0001c0002t0003g0357 a0001c0002t0003g0362 a0001c0002t0003g0364 a0001c0002t0022g0233 a0001c0002t0028g0053 a0001c0002t0030g0231 a0001c0002t0031g0238 a0001c0008t0003g0140 a0002c0003t0003g0256 a0002c0003t0003g0287 a0003c0007t0003g0114 a0013c0026t0003g0038	48	458	0.1048	-72	c.17 others(83): Show c.1750_*1821delGCATGGAAGAATCTGGATGCTTACATTAAACTGG TGTTCTGAGAGTTCCTACGGACAGGTCACCTCTGCTTT		SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	12/12				1750	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1223671	TGCTTACA others(65): Show TGCTTACATTAAACTGGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCT GCTTTCCATAGAAGAATCTGGAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02055.hp2 others(7): Show HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0011c0031	a0001c0001t0016 a0001c0001t0038 a0001c0004t0016 others(3): Show a0001c0001t0016 a0001c0001t0038 a0001c0004t0016 a0001c0004t0049 a0001c0005t0016 a0011c0031t0045	a0001c0001t0016g0143 a0001c0001t0038g0142 a0001c0004t0016g0009 others(4): Show a0001c0001t0016g0143 a0001c0001t0038g0142 a0001c0004t0016g0009 a0001c0004t0016g0024 a0001c0004t0049g0068 a0001c0005t0016g0056 a0011c0031t0045g0099	10	458	0.0218	-72	c.17 others(83): Show c.1783_*1854delGTGTTCTGAGAGTTCCTACGGACAGGTCACCTCT GCTTTCCATAGAAGAATCTGGACGCTTACATTAAACTG		SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	12/12				1783	INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC9A3_chr5_465456_529449	495379	TCCCCGCG others(65): Show TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	218	0.0046	-72	c.212 others(89): Show c.212-3380_212-3309delGGAGTGGAGCGTGGGGAGGGTCGGCGAT GGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGG		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168280	GAAAGAAA others(65): Show GAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01243.hp2 others(8): Show HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG02630.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp2 HG04199.hp1 NA18975.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 others(1): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020	a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0010g0000 others(1): Show a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0010g0000 a0001c0002t0020g0000	11	397	0.0277	-72	c.-30 others(83): Show c.-3076_-3005delAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2913		chr12	TogoVar
SMYD3_chr1_245744347_246512279	245975105	AGCCTAGG others(65): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	150	0.0067	-72	c.532 others(91): Show c.532-45240_532-45169delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCTACAGACGATGGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975133	TAGGGAAA others(65): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0139 a0002c0004t0002g0139	1	150	0.0067	-72	c.532 others(91): Show c.532-45268_532-45197delGGGCCGGAGACGATGGCTTTCCCTAG GCCGGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975373	CAGGGAAA others(65): Show CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0097 a0002c0016t0001g0097	1	150	0.0067	-72	c.532 others(91): Show c.532-45508_532-45437delAGGCCAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975511	CCGGCCCA others(65): Show CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0049 a0001c0011t0002g0049	1	150	0.0067	-72	c.532 others(91): Show c.532-45646_532-45575delCAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975561	AGCCTAGG others(65): Show AGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG02056.hp1 others(1): Show HG00423.hp2 HG00597.hp2 HG02056.hp1 HG02165.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0001c0001t0001 a0001c0001t0002 a0002c0003t0002	a0001c0001t0001g0061 a0001c0001t0002g0066 a0001c0001t0002g0085 others(1): Show a0001c0001t0001g0061 a0001c0001t0002g0066 a0001c0001t0002g0085 a0002c0003t0002g0104	4	150	0.0267	-72	c.532 others(91): Show c.532-45696_532-45625delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTAGGCTACAGACGATGGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975727	CCGGCCCA others(65): Show CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	150	0.0067	-72	c.532 others(91): Show c.532-45862_532-45791delCAGACGATGGCTTTCCCTAGGCTAGA GACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975843	GTCTCCGG others(65): Show GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	150	0.0067	-72	c.532 others(91): Show c.532-45978_532-45907delTGATGGCTTTCCCTGGGCCGGAGACG ATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCGGAGA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975871	CCGGCCCA others(65): Show CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCT AGCCTAGGGAAAGCCATCGTCTG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0102 a0002c0003t0002g0102	1	150	0.0067	-72	c.532 others(91): Show c.532-46006_532-45935delCAGACGATGGCTTTCCCTAGGCTAGA GATGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGCCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975873	GGCCCAGG others(65): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAG CCTAGGGAAAGCCATCGTCTGTA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	150	0.0067	-72	c.532 others(91): Show c.532-46008_532-45937delTACAGACGATGGCTTTCCCTAGGCTA GAGATGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975877	CAGGGAAA others(65): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCATCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	150	0.0067	-72	c.532 others(91): Show c.532-46012_532-45941delAGGCTACAGACGATGGCTTTCCCTAG GCTAGAGATGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976045	TAGGGAAA others(65): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0137 a0002c0003t0001g0137	1	150	0.0067	-72	c.532 others(91): Show c.532-46180_532-46109delGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976069	TAGGGAAA others(65): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	150	0.0067	-72	c.532 others(91): Show c.532-46204_532-46133delGGGCCGGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976113	AGCCCAGG others(65): Show AGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	150	0.0067	-72	c.532 others(91): Show c.532-46248_532-46177delCGGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976256	CGGCCCAG others(65): Show CGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	150	0.0067	-72	c.532 others(91): Show c.532-46391_532-46320delAGAGACGATGGCTTTCCCTGGGCTAG AGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976357	CAGGGAAA others(65): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	150	0.0067	-72	c.532 others(91): Show c.532-46492_532-46421delAGGCTAGAGACGATGGCTTTCCCTGG GCTAGAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976377	AGCCCAGG others(65): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 HG02922.hp1 HG02056.hp2 HG02165.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0001c0001t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0001g0059 a0001c0001t0002g0087 a0002c0004t0001g0127 a0001c0001t0001g0059 a0001c0001t0002g0087 a0002c0004t0001g0127	3	150	0.0200	-72	c.532 others(91): Show c.532-46512_532-46441delCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTGGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976449	GGCCCAGG others(65): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0130 a0002c0003t0002g0130	1	150	0.0067	-72	c.532 others(91): Show c.532-46584_532-46513delTAGAGACGATGGCTTTCCCTGGGCCG GAGACGATGGCTTTCCCTGGGCCGGAGACGATGGCTTTCCCTGGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976520	TAGCCCAG others(65): Show TAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-72	c.532 others(91): Show c.532-46655_532-46584delGGAGACGATGGCTTTCCCTGGGCCGG AGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTGGGCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976736	CAGCCCAG others(65): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	150	0.0067	-72	c.532 others(91): Show c.532-46871_532-46800delAGAGACGATGGCTTTCCCTGGGCTAG AGACGATGGCTTTCCCTAGGCCGGAGACGATGGCTTTCCCTGGGCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976761	GGCCTAGG others(65): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	150	0.0067	-72	c.532 others(91): Show c.532-46896_532-46825delTAGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTGGGCTAGAGACGATGGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976789	CAGGGAAA others(65): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18963.hp2 HG02109.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0002g0023 a0001c0001t0001g0005 a0001c0001t0002g0023	2	150	0.0133	-72	c.532 others(91): Show c.532-46924_532-46853delAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976885	CAGGGAAA others(65): Show CAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	150	0.0067	-72	c.532 others(91): Show c.532-47020_532-46949delAGGCTAGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976905	AGCCTAGG others(65): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	150	0.0067	-72	c.532 others(91): Show c.532-47040_532-46969delCGGAGACGATGGCTTTCCCTAGGCTA GAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCTAGGC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976909	TAGGGAAA others(65): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	150	0.0067	-72	c.532 others(91): Show c.532-47044_532-46973delGGGCCGGAGACGATGGCTTTCCCTAG GCTAGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976933	TAGGGAAA others(65): Show TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0128 a0002c0008t0001g0128	1	150	0.0067	-72	c.532 others(91): Show c.532-47068_532-46997delGGGCTAGAGACGATGGCTTTCCCTGG GCCGGAGACGATGGCTTTCCCTAGGCTAGAGACGATGGCTTTCCCT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNED1_chr2_240993618_241100568	241068253	GCCCCTCA others(65): Show GCCCCTCAGAGAGCAGCGGCCAGCGAGGGTAGATGGTAGCAGCCCCGAGC TCTCCCAGGAGTCCCACAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01169.hp1 others(19): Show HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0008 a0010 a0011	a0001c0074 a0002c0011 a0002c0013 others(10): Show a0001c0074 a0002c0011 a0002c0013 a0002c0036 a0002c0052 a0002c0073 a0002c0080 a0002c0083 a0007c0043 a0008c0033 a0010c0017 a0011c0035 a0011c0054	a0001c0074t0002 a0002c0011t0011 a0002c0011t0015 others(12): Show a0001c0074t0002 a0002c0011t0011 a0002c0011t0015 a0002c0013t0011 a0002c0013t0015 a0002c0036t0025 a0002c0052t0011 a0002c0073t0063 a0002c0080t0011 a0002c0083t0011 a0007c0043t0011 a0008c0033t0030 a0010c0017t0024 a0011c0035t0025 a0011c0054t0030	a0001c0074t0002g0086 a0002c0011t0011g0029 a0002c0011t0011g0128 others(19): Show a0001c0074t0002g0086 a0002c0011t0011g0029 a0002c0011t0011g0128 a0002c0011t0011g0234 a0002c0011t0015g0028 a0002c0011t0015g0043 a0002c0013t0011g0207 a0002c0013t0011g0214 a0002c0013t0015g0188 a0002c0013t0015g0215 a0002c0013t0015g0317 a0002c0036t0025g0022 a0002c0052t0011g0256 a0002c0073t0063g0007 a0002c0080t0011g0124 a0002c0083t0011g0316 a0007c0043t0011g0325 a0008c0033t0030g0335 a0010c0017t0024g0338 a0011c0035t0025g0342 a0011c0035t0025g0343 a0011c0054t0030g0319	22	344	0.0640	-72	c.319 others(89): Show c.3194+384_3194+455delCAGAGAGCAGCGGCCAGCGAGGGTAGAT GGTAGCAGCCCCGAGCTCTCCCAGGAGTCCCACAGTGGACCCCT		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	22/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056460	TGCTGTGG others(65): Show TGCTGTGGGGAGGGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGG AGGGAGGGAGAGCACGGCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(22): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02165.hp1 HG02735.hp1 HG02922.hp1 HG03453.hp1 HG03490.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18963.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA19084.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0009 a0013 a0017	a0001c0001 a0001c0002 a0002c0005 others(7): Show a0001c0001 a0001c0002 a0002c0005 a0002c0022 a0003c0007 a0005c0006 a0006c0010 a0009c0013 a0013c0020 a0017c0031	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0002c0005t0001 a0002c0022t0001 a0003c0007t0001 a0003c0007t0002 a0005c0006t0001 a0006c0010t0001 a0009c0013t0001 a0013c0020t0001 a0017c0031t0001	a0001c0001t0001g0173 a0001c0002t0001g0017 a0001c0002t0001g0087 others(22): Show a0001c0001t0001g0173 a0001c0002t0001g0017 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0001g0126 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0186 a0001c0002t0004g0053 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0156 a0002c0005t0001g0167 a0002c0022t0001g0155 a0003c0007t0001g0018 a0003c0007t0001g0184 a0003c0007t0002g0075 a0005c0006t0001g0019 a0005c0006t0001g0176 a0005c0006t0001g0189 a0006c0010t0001g0162 a0009c0013t0001g0164 a0013c0020t0001g0142 a0013c0020t0001g0143 a0017c0031t0001g0110	25	190	0.1316	-72	c.73- others(89): Show c.73-26930_73-26859delGGAGAGCACGGCGCCCCGCTGTGGGGAG GGAGGGAGGGAGAGCGCAGCGCCACGCTGTGGGGAGGGAGGGAG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1208249	GTGAGTGT others(65): Show GTGAGTGTGAGGCACGCCCATGAGTGTGGGGCACACCTGTGAGTGTGAGG CACATCTGTGTGAGGCACGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(59): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01169.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18969.hp1 NA18983.hp2 NA18986.hp2 NA19000.hp1 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0007 a0011 a0012 a0014 a0017 a0019 a0020 a0021	a0001c0001 a0001c0002 a0002c0003 others(16): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0005c0006 a0005c0015 a0007c0016 a0007c0017 a0007c0024 a0011c0018 a0012c0019 a0014c0035 a0017c0031 a0019c0025 a0020c0032 a0021c0030	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(18): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0007c0016t0001 a0007c0017t0001 a0007c0024t0002 a0011c0018t0001 a0012c0019t0001 a0014c0035t0001 a0017c0031t0001 a0019c0025t0001 a0020c0032t0001 a0021c0030t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(59): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0133 a0001c0002t0002g0002 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0167 a0002c0005t0001g0168 a0003c0007t0001g0055 a0003c0007t0001g0108 a0003c0007t0001g0184 a0003c0008t0001g0106 a0003c0008t0001g0190 a0003c0026t0001g0097 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0002g0003 a0005c0015t0001g0037 a0007c0016t0001g0005 a0007c0016t0001g0033 a0007c0016t0001g0135 a0007c0017t0001g0105 a0007c0017t0001g0118 a0007c0024t0002g0073 a0011c0018t0001g0046 a0012c0019t0001g0122 a0012c0019t0001g0159 a0014c0035t0001g0071 a0017c0031t0001g0110 a0019c0025t0001g0034 a0020c0032t0001g0059 a0021c0030t0001g0160	62	190	0.3263	-72	c.592 others(87): Show c.592-845_592-774delAGGCACGCCCATGAGTGTGGGGCACACCTG TGAGTGTGAGGCACATCTGTGTGAGGCACGTCCATGAGTGTG		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX13_chr7_17785761_17945494	17930058	GGAAATAA others(65): Show GGAAATAAGAATAAAGAATAAGAAAAAGAATAAAGAATAAGAATAAGAAT AAAGAATAAAGAATAAGAATAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0069 a0001c0004t0011g0069	1	338	0.0030	-72	c.12+ others(89): Show c.12+10154_12+10225delTTTATTCTTATTCTTTATTCTTTATTCT TATTCTTATTCTTTATTCTTTTTCTTATTCTTTATTCTTATTTC		SNX13	ENSG00000071189.21	transcript	ENST00000428135.7	protein_coding	1/25						chr7	TogoVar
SNX16_chr8_81794583_81847185	81842511	AGAGAGAG others(65): Show AGAGAGAGAGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAG CGAGAGAGAGAGAGAGAGAGCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	306	0.0033	-72	c.-55 others(81): Show c.-558_-487delACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCTC CCTCGCTCGTTTTCTTTCTCTTTCTCTCTCTCTCTC		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding					327		chr8	TogoVar
SNX29_chr16_11971734_12579287	12322957	CGGGGACC others(65): Show CGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACCACTGTC AGGATGCGGTCACTGGAGTCACT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0079 a0001c0004t0079	a0001c0004t0079g0070 a0001c0004t0079g0070	1	176	0.0057	-72	c.178 others(93): Show c.1783-33134_1783-33063delTGGGGACCACTGTCAGGATGCGGT CACTGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGGAGTCAC		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX9_chr6_157818246_157950077	157827443	TTATAGTT others(65): Show TTATAGTTTATATAATATATAAACTTATAGTTTATATAATATATAAACTT ATAGTTTATATAATATATAAACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02886.hp1 others(2): Show HG01884.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0021 a0001c0003t0005 others(1): Show a0001c0001t0005 a0001c0001t0021 a0001c0003t0005 a0001c0003t0022	a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0021g0291 others(2): Show a0001c0001t0005g0289 a0001c0001t0005g0293 a0001c0001t0021g0291 a0001c0003t0005g0290 a0001c0003t0022g0292	5	302	0.0166	-72	c.12+ others(87): Show c.12+4021_12+4092delTTATAGTTTATATAATATATAAACTTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAAC		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SOGA1_chr20_36772447_36868538	36858321	CACACACA others(65): Show CACACACACACACACACACACACACACACACTGGCTGCACTTCACTCACA TCTAGAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0239 a0001c0014t0001g0239	1	282	0.0036	-72	c.687 others(89): Show c.687+4265_687+4336delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14						chr20	TogoVar
SORCS2_chr4_7187538_7747827	7741551	CTCCCTCT others(65): Show CTCCCTCTCAGAGGGGGAGAACGCCAGAGCCCTGGCTGGTGATGTGCTGG CTGGGGGTGAATCCCAATGAGGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0020 a0001c0002t0047g0020	1	168	0.0060	-72	c.13 others(83): Show c.1300_*1371delGGGGAGAACGCCAGAGCCCTGGCTGGTGATGTGC TGGCTGGGGGTGAATCCCAATGAGGGTCCCTCTCAGAG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	27/27				1300	INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7741564	GGGGAGAA others(65): Show GGGGAGAACGCCAGAGCCCTGGCTGGTGATGTGCTGGCTGGGGGTGAATC CCAATGAGGGTCCCTCTCAGAGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01175.hp2 others(2): Show HG00733.hp1 HG01106.hp2 HG01175.hp2 HG02258.hp2 HG04199.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0018c0055	a0001c0001t0017 a0001c0003t0064 a0001c0006t0017 others(2): Show a0001c0001t0017 a0001c0003t0064 a0001c0006t0017 a0001c0011t0017 a0018c0055t0048	a0001c0001t0017g0003 a0001c0003t0064g0005 a0001c0006t0017g0117 others(2): Show a0001c0001t0017g0003 a0001c0003t0064g0005 a0001c0006t0017g0117 a0001c0011t0017g0120 a0018c0055t0048g0150	5	168	0.0298	-72	c.13 others(83): Show c.1322_*1393delCTGGTGATGTGCTGGCTGGGGGTGAATCCCAATG AGGGTCCCTCTCAGAGCGGGAGAACGCCAGAGCCCTGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	27/27				1322	INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7741595	TGCTGGCT others(65): Show TGCTGGCTGGGGGTGAATCCCAATGAGGGTCCCTCTCAGAGCGGGAGAAC GCCAGAGCCCTGGATGGTGATGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0033 a0003c0013t0033	a0003c0013t0033g0041 a0003c0013t0033g0041	1	168	0.0060	-72	c.13 others(83): Show c.1371_*1442delGCGGGAGAACGCCAGAGCCCTGGATGGTGATGCG CTGGCTGGGGGTGAATCCCAATGAGGGTCCCTCTCAGA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	27/27				1371	INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7741636	CGGGAGAA others(65): Show CGGGAGAACGCCAGAGCCCTGGATGGTGATGCGCTGGCTGGGGGTGAATC CCAATGAGGGTCCCTCTCAGAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0094 a0001c0001t0057g0094	1	168	0.0060	-72	c.13 others(83): Show c.1394_*1465delATGGTGATGCGCTGGCTGGGGGTGAATCCCAATG AGGGTCCCTCTCAGAAAGGGAGAACGCCAGAGCCCTGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	27/27				1394	INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16132299	GAAGGAAG others(65): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	218	0.0046	-72	c.778 others(91): Show c.778-20448_778-20377delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPART_chr13_36296638_36351394	36323144	CACTCCAT others(65): Show CACTCCATGTCAACTGTTTGCCTAGCATTCCAGAGTCCATCTGTAAATTA AATTGGGAAAGACTAGGGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	378	0.0027	-72	c.128 others(91): Show c.1288+3359_1288+3430delCAACTCCCTAGTCTTTCCCAATTTAA TTTACAGATGGACTCTGGAATGCTAGGCAAACAGTTGACATGGAGT		SPART	ENSG00000133104.14	transcript	ENST00000438666.7	protein_coding	5/8						chr13	TogoVar
SPATA16_chr3_172884357_173146235	173140832	GAGTGGGG others(65): Show GAGTGGGGAAGGATAGGGTGACCCGGTGCAGCGGACAGGGAACCACTTTG GAACTACCTGTCTTCTAACTGCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	200	0.0050	-72	c.-19 others(87): Show c.-19+199_-19+270delGGCAGTTAGAAGACAGGTAGTTCCAAAGTG GTTCCCTGTCCGCTGCACCGGGTCACCCTATCCTTCCCCACT		SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	1/10						chr3	TogoVar
SPATA3_chr2_230991121_231013040	231002347	GTTGTTGT others(65): Show GTTGTTGTGAGGCTGGAAGAAGACACTGGGTGTGAGGTATTTAGCACAAG GCCTGGCTCACAGCAGACTTGAC	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0063 a0005c0005t0002g0063	1	436	0.0023	-72	c.474 others(87): Show c.474-336_474-265delTTGTTGTGAGGCTGGAAGAAGACACTGGGT GTGAGGTATTTAGCACAAGGCCTGGCTCACAGCAGACTTGAC		SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	2/4						chr2	TogoVar
SPRR1B_chr1_153026203_153037900	153032465	CTGCCACC others(65): Show CTGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCT GCCAGCCCAAGGTTCCAGAGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0002 a0004c0005t0001g0002	1	444	0.0023	-72	c.149 others(79): Show c.149_220delACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCA GAGCCATGCCACCCCAAGGTGCCTGAGCCCTGCC	p.His others(11): Show p.His50_Cys73del	SPRR1B	ENSG00000169469.9	transcript	ENST00000307098.5	protein_coding	2/2	213/619	149/270	50/89		INFO_REALIGN_3_PRIME	chr1	TogoVar

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