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	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
SMYD3_chr1_245744347_246512279	246388256	TGGGGACC others(56): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG02004.hp1 HG00408.hp1 HG01109.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0002g0030 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0002g0030	3	150	0.0200	-63	c.165 others(82): Show c.165-33225_165-33163delTAGAAACTGACTTCAACCTCGAGGTG ATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388787	GAAAATCA others(56): Show GAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAA GCATTCATTCTTGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp2 HG02647.hp1 others(1): Show HG01496.hp2 HG02258.hp2 HG02647.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001	a0001c0002t0001g0064 a0002c0003t0001g0099 a0002c0004t0001g0107 others(1): Show a0001c0002t0001g0064 a0002c0003t0001g0099 a0002c0004t0001g0107 a0002c0005t0001g0142	4	150	0.0267	-63	c.165 others(82): Show c.165-33756_165-33694delTCAAGAATGAATGCTTTCTACAAGGA GGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388849	GAAAAATC others(56): Show GAAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAA AGCATTCATTCTTG	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0141 a0002c0003t0001g0141	1	150	0.0067	-63	c.165 others(82): Show c.165-33818_165-33756delCAAGAATGAATGCTTTCTACAAGGAG GTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246389481	TCGAGGTT others(56): Show TCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTC TTGAAAATCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	150	0.0067	-63	c.165 others(82): Show c.165-34450_165-34388delGAGGTGATTTTCAAGAATGAATGCTT TCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTCG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246389691	GGGACCTC others(56): Show GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG01496.hp2 others(5): Show HG00408.hp1 HG01109.hp2 HG01496.hp2 HG01975.hp2 HG02056.hp2 HG02647.hp1 HG03831.hp1 HG04115.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0004c0013t0002	a0001c0001t0001g0055 a0001c0001t0002g0030 a0001c0001t0002g0087 others(5): Show a0001c0001t0001g0055 a0001c0001t0002g0030 a0001c0001t0002g0087 a0001c0002t0001g0016 a0001c0002t0001g0064 a0002c0003t0001g0099 a0002c0004t0001g0107 a0004c0013t0002g0072	8	150	0.0533	-63	c.165 others(82): Show c.165-34660_165-34598delTCTAGAAACTGACTTCAACCTCGAGG TGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246493779	ACCACTAT others(56): Show ACCACTATTCCAATAGTTCCAGCTCAAAACCCAGCACTCACCCTTCACCA CAGAGCAGTACTGT	A A	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0091 a0001c0014t0002g0091	1	150	0.0067	-63	c.164 others(82): Show c.164+13212_164+13274delACAGTACTGCTCTGTGGTGAAGGGTG AGTGCTGGGTTTTGAGCTGGAACTATTGGAATAGTGG		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SNED1_chr2_240993618_241100568	241052642	CCAAGCAG others(56): Show CCAAGCAGGGTACATGGGACACCGGTGCCAGGCAGGTGAGAGGGTCGGCG GGGGGGGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp1 HG02083.hp2 others(11): Show HG00438.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02683.hp1 HG02735.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18960.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0060 a0002c0003 others(1): Show a0001c0001 a0001c0060 a0002c0003 a0003c0024	a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 others(7): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0060t0005 a0002c0003t0004 a0002c0003t0006 a0002c0003t0010 a0002c0003t0013 a0003c0024t0004 a0003c0024t0010	a0001c0001t0005g0299 a0001c0001t0009g0278 a0001c0001t0017g0272 others(11): Show a0001c0001t0005g0299 a0001c0001t0009g0278 a0001c0001t0017g0272 a0001c0001t0017g0273 a0001c0060t0005g0193 a0002c0003t0004g0271 a0002c0003t0006g0275 a0002c0003t0010g0190 a0002c0003t0010g0218 a0002c0003t0013g0194 a0002c0003t0013g0219 a0002c0003t0013g0307 a0003c0024t0004g0269 a0003c0024t0010g0286	14	344	0.0407	-63	c.208 others(80): Show c.2083+193_2083+255delCACCGGTGCCAGGCAGGTGAGAGGGTCG GCGGGGGGGGGGGGGGTCAAGCAGGGTACATGGGA		SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG1_chr8_49906407_50801692	50778622	GGTTGCGA others(56): Show GGTTGCGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGG TAGTTTCTTTTGCT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp1 HG01884.hp1 others(22): Show HG00621.hp2 HG01192.hp1 HG01884.hp1 HG02109.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18968.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0031 a0001c0001t0037 a0001c0001t0041 a0001c0001t0046 a0001c0001t0049 a0001c0005t0019 a0002c0003t0018 a0002c0003t0043 a0003c0004t0005	a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 others(22): Show a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0001t0007g0006 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0039 a0001c0001t0008g0061 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0015g0001 a0001c0001t0017g0057 a0001c0001t0023g0002 a0001c0001t0031g0055 a0001c0001t0037g0034 a0001c0001t0041g0025 a0001c0001t0046g0104 a0001c0001t0049g0106 a0001c0005t0019g0044 a0002c0003t0018g0045 a0002c0003t0043g0050 a0003c0004t0005g0040	25	106	0.2359	-63	c.139 others(84): Show c.1396-14046_1396-13984delTGCGAAAATTTTCTCCCATTTTGT AGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGT		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX29_chr16_11971734_12579287	12323023	AGTCACTG others(56): Show AGTCACTGGGGACCACTGTCAGGATGCGGTCACTGGAGTCACCGGGGACC ACTGTCAGGATGCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG01884.hp2 others(12): Show HG01167.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG03098.hp2 HG03130.hp1 HG03540.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0013	a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 others(11): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 a0001c0001t0036 a0001c0001t0040 a0001c0001t0055 a0001c0001t0063 a0001c0002t0018 a0001c0002t0087 a0001c0003t0054 a0001c0004t0080 a0001c0004t0099 a0001c0012t0002 a0001c0013t0094	a0001c0001t0002g0065 a0001c0001t0013g0016 a0001c0001t0013g0150 others(12): Show a0001c0001t0002g0065 a0001c0001t0013g0016 a0001c0001t0013g0150 a0001c0001t0028g0122 a0001c0001t0036g0030 a0001c0001t0040g0124 a0001c0001t0055g0121 a0001c0001t0063g0039 a0001c0002t0018g0037 a0001c0002t0087g0147 a0001c0003t0054g0117 a0001c0004t0080g0054 a0001c0004t0099g0125 a0001c0012t0002g0028 a0001c0013t0094g0126	15	176	0.0852	-63	c.178 others(84): Show c.1783-33131_1783-33069delGGACCACTGTCAGGATGCGGTCAC TGGAGTCACCGGGGACCACTGTCAGGATGCGGTCACTGG		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SOAT1_chr1_179288797_179363680	179337463	ATCTCTAC others(56): Show ATCTCTACAAGAAGGAAAAGTGATTGCCAAAGTCCATAGGGGCTGAGTGT GGCGACCTTGCCAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02486.hp2 others(6): Show HG01099.hp1 HG02145.hp2 HG02486.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0010 a0001c0001t0074 a0001c0004t0016 others(2): Show a0001c0001t0010 a0001c0001t0074 a0001c0004t0016 a0001c0005t0015 a0001c0005t0058	a0001c0001t0010g0129 a0001c0001t0074g0134 a0001c0004t0016g0133 others(6): Show a0001c0001t0010g0129 a0001c0001t0074g0134 a0001c0004t0016g0133 a0001c0004t0016g0136 a0001c0005t0015g0130 a0001c0005t0015g0131 a0001c0005t0015g0132 a0001c0005t0015g0137 a0001c0005t0058g0135	9	382	0.0236	-63	c.330 others(78): Show c.330-329_330-267delAGTGTGGCGACCTTGCCATTCTCTACAAGA AGGAAAAGTGATTGCCAAAGTCCATAGGGGCTG		SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7255851	ACCCGGGG others(56): Show ACCCGGGGCTGGAGCGTGGGGCCCCGGGGCTGGAGCGTGGGGACCCGGGG CTGGAGCGTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02040.hp1 HG02293.hp2 others(4): Show HG01192.hp1 HG02040.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp1 NA18906.hp2 NA19000.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0002 a0001c0006 a0001c0031 others(3): Show a0001c0002 a0001c0006 a0001c0031 a0003c0012 a0003c0042 a0008c0052	a0001c0002t0002 a0001c0002t0067 a0001c0006t0066 others(4): Show a0001c0002t0002 a0001c0002t0067 a0001c0006t0066 a0001c0031t0026 a0003c0012t0055 a0003c0042t0003 a0008c0052t0004	a0001c0002t0002g0062 a0001c0002t0067g0115 a0001c0006t0066g0084 others(4): Show a0001c0002t0002g0062 a0001c0002t0067g0115 a0001c0006t0066g0084 a0001c0031t0026g0144 a0003c0012t0055g0033 a0003c0042t0003g0066 a0008c0052t0004g0030	7	168	0.0417	-63	c.480 others(82): Show c.480+62746_480+62808delCCCCGGGGCTGGAGCGTGGGGACCCG GGGCTGGAGCGTGGGGCCCCGGGGCTGGAGCGTGGGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724357	GTAGTAAT others(56): Show GTAGTAATGGTGATGATGGTGGTGATAGGGTGTTGGTGATGGTGATAGTA GTGGTGGGAATGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19240.hp2 HG02109.hp1 NA19240.hp2	a0009 a0013 a0009 a0013	a0009c0025 a0013c0032 a0009c0025 a0013c0032	a0009c0025t0031 a0013c0032t0030 a0009c0025t0031 a0013c0032t0030	a0009c0025t0031g0025 a0013c0032t0030g0149 a0009c0025t0031g0025 a0013c0032t0030g0149	2	168	0.0119	-63	c.261 others(80): Show c.2611+476_2611+538delAGTAATGGTGATGATGGTGGTGATAGGG TGTTGGTGATGGTGATAGTAGTGGTGGGAATGGAT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX6_chr11_15961449_16361546	16132294	GGAAGGAA others(56): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAAAAGA AAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	218	0.0046	-63	c.778 others(82): Show c.778-20434_778-20372delTTTCTTTCTTTCTTTCTTTTTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPADH_chr10_122667850_122684494	122681360	CATCAGAC others(56): Show CATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGG AGATAGAAACATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	414	0.0024	-63	c.23 others(74): Show c.2313_*2375delATCAGACCTTTTACCTCTGTCAACCATGGTTTTC TCATGTGTGAACTGGAGATAGAAACATCA		SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding					1867		chr10	TogoVar
SPATA13_chr13_24155720_24312069	24190090	TAATGATA others(56): Show TAATGATATACAATATATATTATTATATAACATAATAATATACAATATAT ATTATTATATAACA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0001c0030 a0001c0050 a0002c0007 a0002c0037 a0005c0010	a0001c0001t0104 a0001c0002t0013 a0001c0002t0050 others(12): Show a0001c0001t0104 a0001c0002t0013 a0001c0002t0050 a0001c0004t0072 a0001c0004t0093 a0001c0005t0015 a0001c0005t0024 a0001c0005t0057 a0001c0013t0130 a0001c0030t0042 a0001c0050t0002 a0002c0007t0076 a0002c0007t0087 a0002c0037t0043 a0005c0010t0037	a0001c0001t0104g0030 a0001c0002t0013g0202 a0001c0002t0050g0027 others(12): Show a0001c0001t0104g0030 a0001c0002t0013g0202 a0001c0002t0050g0027 a0001c0004t0072g0122 a0001c0004t0093g0055 a0001c0005t0015g0204 a0001c0005t0024g0352 a0001c0005t0057g0195 a0001c0013t0130g0197 a0001c0030t0042g0157 a0001c0050t0002g0354 a0002c0007t0076g0200 a0002c0007t0087g0353 a0002c0037t0043g0038 a0005c0010t0037g0069	15	356	0.0421	-63	c.-11 others(84): Show c.-112+29159_-112+29221delAATGATATACAATATATATTATTA TATAACATAATAATATACAATATATATTATTATATAACA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12						chr13	TogoVar
SPATA17_chr1_217626344_217876696	217875675	GGTTTCAA others(56): Show GGTTTCAAATCTATGGCACAAATAATCGTGATAAGTTTCATTTTGGCAAG GACCGTTAGTTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0160 a0001c0002t0021g0160	1	252	0.0040	-63	c.86 others(74): Show c.8657_*8719delGTTTCAAATCTATGGCACAAATAATCGTGATAAG TTTCATTTTGGCAAGGACCGTTAGTTCAA		SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding					3980		chr1	TogoVar
SPATA33_chr16_89652836_89675458	89655373	CCCTCACC others(56): Show CCCTCACCTCAGCTTTCCCTCACCTCAGCTTTCCCTCACCTCAGCTTTCC CTCACCTCAGCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0022 a0001c0001t0015g0022 a0001c0001t0001g0022 a0001c0001t0015g0022	3	422	0.0071	-63	c.-25 others(74): Show c.-2538_-2476delCCTCACCTCAGCTTTCCCTCACCTCAGCTTTCCC TCACCTCAGCTTTCCCTCACCTCAGCTCT		SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding					2462		chr16	TogoVar
SPDYE16_chr7_76526313_76548297	76541943	TAAGAGTG others(56): Show TAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCACGTACAAGAGTG AGATTATCATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp2 others(50): Show HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01952.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02976.hp2 HG03130.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18968.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18995.hp2 NA19000.hp2 NA19007.hp1 NA19057.hp2 NA19064.hp1 NA19081.hp2 NA19089.hp2 NA20752.hp1	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0010	a0002c0002 a0002c0004 a0008c0012 others(2): Show a0002c0002 a0002c0004 a0008c0012 a0009c0013 a0010c0011	a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 others(7): Show a0002c0002t0003 a0002c0002t0009 a0002c0002t0011 a0002c0002t0016 a0002c0002t0018 a0002c0004t0005 a0002c0004t0014 a0008c0012t0009 a0009c0013t0003 a0010c0011t0003	a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0018 others(30): Show a0002c0002t0003g0002 a0002c0002t0003g0004 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0090 a0002c0002t0003g0093 a0002c0002t0003g0099 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0009g0089 a0002c0002t0009g0092 a0002c0002t0011g0096 a0002c0002t0011g0100 a0002c0002t0016g0095 a0002c0002t0018g0091 a0002c0004t0005g0013 a0002c0004t0005g0014 a0002c0004t0005g0039 a0002c0004t0005g0040 a0002c0004t0005g0041 a0002c0004t0005g0042 a0002c0004t0005g0043 a0002c0004t0005g0044 a0002c0004t0005g0045 a0002c0004t0014g0038 a0008c0012t0009g0098 a0009c0013t0003g0097 a0010c0011t0003g0094	53	255	0.2078	-63	c.-42 others(79): Show c.-421-126_-421-64delGTACATGATAATCTCACTCTTGTACGTGA TAATCTCACTCTTGTACATGATAATCTCACTCTT		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8						chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278125	TACATGAT others(56): Show TACATGATAATCTCACTCTTGCACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTTGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01256.hp2 HG01496.hp2 others(15): Show HG01123.hp2 HG01256.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0012 a0005c0005t0018 a0005c0005t0004 a0005c0005t0012 a0005c0005t0018	a0005c0005t0004g0009 a0005c0005t0004g0024 a0005c0005t0004g0056 others(5): Show a0005c0005t0004g0009 a0005c0005t0004g0024 a0005c0005t0004g0056 a0005c0005t0004g0122 a0005c0005t0004g0124 a0005c0005t0012g0024 a0005c0005t0012g0123 a0005c0005t0018g0009	18	460	0.0391	-63	c.-42 others(79): Show c.-422-146_-422-84delCACATGATAATCTCACTCTTGTACATGAT AATCTCACTCTTGCACATGATAATCTCACTCTTG		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278146	CACATGAT others(56): Show CACATGATAATCTCACTCTTGTACATGATAATCTCACTCTTGCACATGAT AATCTCACTCTTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(234): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0017	a0001c0001 a0002c0002 a0002c0010 others(10): Show a0001c0001 a0002c0002 a0002c0010 a0004c0004 a0006c0006 a0007c0008 a0008c0009 a0009c0011 a0010c0013 a0012c0019 a0015c0015 a0016c0014 a0017c0020	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0009 a0002c0002t0017 a0002c0010t0001 a0002c0010t0020 a0004c0004t0004 a0006c0006t0007 a0006c0006t0015 a0007c0008t0007 a0008c0009t0010 a0009c0011t0001 a0010c0013t0013 a0012c0019t0001 a0015c0015t0001 a0016c0014t0001 a0017c0020t0004	a0001c0001t0001g0090 a0001c0001t0005g0008 a0001c0001t0005g0015 others(104): Show a0001c0001t0001g0090 a0001c0001t0005g0008 a0001c0001t0005g0015 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0026 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0077 a0002c0002t0017g0087 a0002c0010t0001g0003 a0002c0010t0001g0012 a0002c0010t0001g0037 a0002c0010t0001g0038 a0002c0010t0020g0003 a0004c0004t0004g0007 a0004c0004t0004g0014 a0004c0004t0004g0027 a0004c0004t0004g0028 a0004c0004t0004g0046 a0004c0004t0004g0047 a0004c0004t0004g0094 a0004c0004t0004g0095 a0004c0004t0004g0096 a0004c0004t0004g0097 a0004c0004t0004g0098 a0004c0004t0004g0099 a0004c0004t0004g0101 a0006c0006t0007g0023 a0006c0006t0007g0054 a0006c0006t0007g0117 a0006c0006t0007g0118 a0006c0006t0007g0119 a0006c0006t0007g0120 a0006c0006t0015g0054 a0007c0008t0007g0030 a0007c0008t0007g0053 a0007c0008t0007g0115 a0007c0008t0007g0116 a0008c0009t0010g0061 a0008c0009t0010g0062 a0008c0009t0010g0157 a0008c0009t0010g0158 a0009c0011t0001g0001 a0009c0011t0001g0012 a0009c0011t0001g0071 a0010c0013t0013g0093 a0010c0013t0013g0121 a0012c0019t0001g0001 a0015c0015t0001g0013 a0016c0014t0001g0004 a0017c0020t0004g0100	237	460	0.5152	-63	c.-42 others(79): Show c.-422-126_-422-64delGTACATGATAATCTCACTCTTGCACATGA TAATCTCACTCTTGTACATGATAATCTCACTCTT		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPN_chr16_29658247_29675876	29664313	GACCTCCA others(56): Show GACCTCCACTGGGACCACTGGACCCCCTGTTACCATGACAACTGGCTCTC TGGAGCCCTCCAGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19056.hp2 NA19056.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0009 a0004c0015t0009	a0004c0015t0009g0001 a0004c0015t0009g0001	1	394	0.0025	-63	c.586 others(70): Show c.586_648delACCTCCACTGGGACCACTGGACCCCCTGTTACCATGAC AACTGGCTCTCTGGAGCCCTCCAGC	p.Thr others(13): Show p.Thr196_Ser216del	SPN	ENSG00000197471.12	transcript	ENST00000652691.1	protein_coding	2/2	690/7252	586/1203	196/400			chr16	TogoVar
SRGAP2C_chr1_121179975_121397874	121239226	ATACTATA others(56): Show ATACTATATATATATATATACTATATATATATATATATATACTATATATA TATATACTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0257 a0002c0002t0009g0257	1	274	0.0037	-63	c.68- others(80): Show c.68-45576_68-45514delTACTATATATATATATATACTATATATA TATATATATATACTATATATATATATACTATATAT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9						chr1	TogoVar
SRP54_chr14_34977992_35034567	35007641	ATAATAAA others(56): Show ATAATAAAATATATTTACATAAAATAGATTTTATTAAAATATATTTACAT AAAATAGATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	396	0.0025	-63	c.360 others(78): Show c.360+258_360+320delTAAAATATATTTACATAAAATAGATTTTAT TAAAATATATTTACATAAAATAGATTTTATTAA		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SSBP2_chr5_81407804_81756097	81640681	ATCCTTCT others(56): Show ATCCTTCTCTCAAAAACTCTGATGTCCTGCTAAAATTATAATTTAGTCAA AAACCTACGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG02738.hp2 others(2): Show HG01934.hp1 HG02004.hp1 HG02738.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0015 a0001c0002t0032 a0001c0002t0006 a0001c0002t0015 a0001c0002t0032	a0001c0002t0006g0098 a0001c0002t0015g0093 a0001c0002t0015g0094 others(2): Show a0001c0002t0006g0098 a0001c0002t0015g0093 a0001c0002t0015g0094 a0001c0002t0032g0099 a0001c0002t0032g0138	5	206	0.0243	-63	c.136 others(80): Show c.136-4126_136-4064delCGAGACGTAGGTTTTTGACTAAATTATA ATTTTAGCAGGACATCAGAGTTTTTGAGAGAAGGA		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	2/16						chr5	TogoVar
STK32C_chr10_132202492_132312950	132265111	GGGCTCTG others(56): Show GGGCTCTGGGGGTGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGGAGCTGC CAGGGCGGCGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	368	0.0027	-63	c.263 others(82): Show c.263-19219_263-19157delACCTCGCCGCCCTGGCAGCTCCCCCA GAGCCCACCTCACTGCCCTTGCGGCACCCCCAGAGCC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK32C_chr10_132202492_132312950	132265123	TGCCGCAA others(56): Show TGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGGAGCTGCCAGGGCGGCGAG GTGGCTCTGGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG02451.hp2 others(1): Show HG00741.hp2 HG02280.hp2 HG02451.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004	a0001c0001t0002 a0001c0002t0003 a0001c0006t0002 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0006t0002 a0002c0004t0003	a0001c0001t0002g0014 a0001c0002t0003g0340 a0001c0006t0002g0339 others(1): Show a0001c0001t0002g0014 a0001c0002t0003g0340 a0001c0006t0002g0339 a0002c0004t0003g0057	4	368	0.0109	-63	c.263 others(82): Show c.263-19231_263-19169delTCCCCCAGAGCCACCTCGCCGCCCTG GCAGCTCCCCCAGAGCCCACCTCACTGCCCTTGCGGC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK32C_chr10_132202492_132312950	132265167	GGCGAGGT others(56): Show GGCGAGGTGGCTCTGGGGGAGCCGCAAGGGCAGTGAGGTGGGCTCTGGGG GAGCTGCCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01069.hp1 others(15): Show HG00621.hp2 HG00733.hp2 HG01069.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp2 HG03471.hp2 NA18906.hp1 NA18954.hp2 NA18972.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0005t0003 a0002c0004t0003	a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0094 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0002g0285 a0001c0001t0002g0293 a0001c0001t0012g0003 a0001c0002t0002g0098 a0001c0002t0002g0162 a0001c0002t0003g0048 a0001c0002t0005g0282 a0001c0005t0003g0087 a0002c0004t0003g0105	18	368	0.0489	-63	c.263 others(82): Show c.263-19275_263-19213delTGCCCTGGCAGCTCCCCCAGAGCCCA CCTCACTGCCCTTGCGGCTCCCCCAGAGCCACCTCGC		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STON1_chr2_48525154_48603513	48564453	TTCTTCTT others(56): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0267 a0004c0007t0001g0267	1	376	0.0027	-63	c.-47 others(82): Show c.-47-16132_-47-16070delCTTCTTCTTCTTCTTCTTCTTCTTCT TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STOX2_chr4_183900307_184028526	183932303	GTGTATAC others(56): Show GTGTATACATACAGTATATGTATGTATACATACAGTATATGTATGTATAC ATACAGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG06807.hp1 HG02040.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0107 a0001c0001t0001 a0001c0001t0107	a0001c0001t0001g0174 a0001c0001t0107g0023 a0001c0001t0001g0174 a0001c0001t0107g0023	2	318	0.0063	-63	c.166 others(82): Show c.166+25479_166+25541delACATACAGTATATGTATGTATACATA CAGTATATGTATGTATACATACAGTATATGTATGTAT		STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
STYXL2_chr1_167089075_167134165	167102932	ACTACAAA others(56): Show ACTACAAACTAGGCAGCTTAAAAACAAGAGAAATTTATTTTCTCACATAT TGGAAGCCAGAAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(20): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp1 HG03927.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0014 others(3): Show a0001c0001 a0002c0002 a0002c0014 a0002c0029 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(4): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0002c0014t0004 a0002c0029t0004 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0232 a0002c0002t0003g0029 a0002c0002t0003g0227 others(18): Show a0001c0001t0001g0232 a0002c0002t0003g0029 a0002c0002t0003g0227 a0002c0002t0003g0231 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0242 a0002c0002t0004g0228 a0002c0014t0004g0028 a0002c0029t0004g0243 a0003c0003t0002g0241 a0004c0004t0001g0226 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0235 a0004c0004t0001g0238 a0004c0004t0001g0247	23	362	0.0635	-63	c.110 others(80): Show c.110+7976_110+8038delACAAACTAGGCAGCTTAAAAACAAGAGA AATTTATTTTCTCACATATTGGAAGCCAGAAGTCT		STYXL2	ENSG00000198842.10	transcript	ENST00000361200.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
SUGT1_chr13_52647836_52705909	52699201	TGGGGGGT others(56): Show TGGGGGGTCATTATGATTAAGTTATTGAATCCATATCACCGTATGACAGC ACATGATGAAAGAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0195 a0001c0001t0085g0195	1	310	0.0032	-63	c.11 others(76): Show c.11367_*11429delGGGGGGTCATTATGATTAAGTTATTGAATCCA TATCACCGTATGACAGCACATGATGAAAGAA		SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	13/13				11367		chr13	TogoVar
SUPT3H_chr6_44821726_45382934	44879596	TCAAGTGG others(56): Show TCAAGTGGGGCCCTGACCCCCATGCCTCCTGACTTGGAGACAACTCCCAG TAGGGGCTGACAGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	262	0.0038	-63	c.913 others(82): Show c.913-49802_913-49740delTCTGTCAGCCCCTACTGGGAGTTGTC TCCAAGTCAGGAGGCATGGGGGTCAGGGCCCCACTTG		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10						chr6	TogoVar
SYT10_chr12_33369238_33444819	33416071	ACACCATT others(56): Show ACACCATTCTCTTTTATTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCA CCCAGGCTGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01070.hp2 others(38): Show HG00639.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02630.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03654.hp1 HG03688.hp2 NA18906.hp2 NA18941.hp2 NA18967.hp2 NA18970.hp1 NA18986.hp2 NA18989.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19082.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0005 a0003c0007 others(1): Show a0001c0002 a0001c0005 a0003c0007 a0005c0010	a0001c0002t0004 a0001c0002t0031 a0001c0005t0015 others(2): Show a0001c0002t0004 a0001c0002t0031 a0001c0005t0015 a0003c0007t0015 a0005c0010t0004	a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 others(35): Show a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0261 a0001c0002t0004g0263 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0267 a0001c0002t0004g0269 a0001c0002t0004g0270 a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0278 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0004g0283 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0287 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0290 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0293 a0001c0002t0004g0294 a0001c0002t0004g0295 a0001c0002t0031g0268 a0001c0005t0015g0262 a0003c0007t0015g0277 a0005c0010t0004g0286	41	320	0.1281	-63	c.510 others(80): Show c.510-8778_510-8716delCACTCCAGCCTGGGTGACAGAGTGAGAC TCTGTCTCAACAACAACAAATAAAAGAGAATGGTG		SYT10	ENSG00000110975.8	transcript	ENST00000228567.7	protein_coding	2/6						chr12	TogoVar
TAB3_chrX_30822442_30894254	30868504	ATATATAT others(56): Show ATATATATATAGCTTATATATATATATATATAGCTTATATATATATATAT ATATATATATAGCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01074.hp1 others(28): Show HG00099.hp2 HG00642.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG02071.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02897.hp1 HG02976.hp1 HG03453.hp2 HG03516.hp1 HG03688.hp1 NA18946.hp2 NA18953.hp1 NA18963.hp2 NA18973.hp2 NA18984.hp1 NA18988.hp1 NA18993.hp1 NA19004.hp1 NA19005.hp1 NA19065.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0033 a0001c0001t0036 a0001c0001t0040	a0001c0001t0003g0006 a0001c0001t0003g0193 a0001c0001t0003g0239 others(26): Show a0001c0001t0003g0006 a0001c0001t0003g0193 a0001c0001t0003g0239 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0005g0216 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0007g0007 a0001c0001t0007g0244 a0001c0001t0007g0274 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0014g0222 a0001c0001t0014g0223 a0001c0001t0015g0258 a0001c0001t0015g0262 a0001c0001t0019g0256 a0001c0001t0020g0254 a0001c0001t0033g0286 a0001c0001t0036g0253 a0001c0001t0040g0241	31	302	0.1027	-63	c.-27 others(81): Show c.-279-1018_-279-956delAGCTATATATATATATATATATATATA TAAGCTATATATATATATATATAAGCTATATATATA		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TAB3_chrX_30822442_30894254	30868515	GCTTATAT others(56): Show GCTTATATATATATATATATAGCTTATATATATATATATATATATATATA GCTTATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp1 HG01981.hp1 others(3): Show HG01496.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 NA18951.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0003 a0001c0001t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0003g0009 a0001c0001t0003g0279 a0001c0001t0003g0283 others(2): Show a0001c0001t0003g0009 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0007g0280 a0001c0002t0003g0281	6	302	0.0199	-63	c.-27 others(81): Show c.-279-1029_-279-967delATATATATATAAGCTATATATATATAT ATATATATATATAAGCTATATATATATATATATAAG		TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10						chrX	TogoVar
TAF4_chr20_61969798_62070881	61984614	CCACCCAG others(56): Show CCACCCAGCTGGGAAAGAGGAAGCTCCTGATGCAGTGACACGAGGGCAGT GCCCGGGACATCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02886.hp1 others(5): Show HG01884.hp1 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0010g0051	8	314	0.0255	-63	c.309 others(82): Show c.3091-8342_3091-8280delCTGATGTCCCGGGCACTGCCCTCGTG TCACTGCATCAGGAGCTTCCTCTTTCCCAGCTGGGTG		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14						chr20	TogoVar
TAFA5_chr22_48484553_48756932	48610566	CCACCAGG others(56): Show CCACCAGGAGGGCTTTGTCCCCAGCATGGAGGAGCAGAGGGGCAGGCTCG CAGGCAGCTCGGGA	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	258	0.0039	-63	c.113 others(82): Show c.113-36029_113-35967delACCAGGAGGGCTTTGTCCCCAGCATG GAGGAGCAGAGGGGCAGGCTCGCAGGCAGCTCGGGAC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBXAS1_chr7_139824264_140025293	139865635	AGAGGAGG others(56): Show AGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGG AGGAGGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	270	0.0037	-63	c.90- others(78): Show c.90-6570_90-6508delAGAGGAGGAGGAGGAAGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGA		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCERG1L_chr10_131087391_131316721	131108402	CCTCATCT others(56): Show CCTCATCTTCTACCACCCTTGCTTCCTGTCTGTGGGGAATAAACGCACTT CAGATGATTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(135): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0015 a0002c0004 a0003c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0009t0007 a0001c0012t0001 a0001c0015t0002 a0002c0004t0002 a0002c0004t0007 a0002c0004t0008 a0003c0005t0002 a0003c0005t0007 a0003c0005t0008 a0007c0007t0007	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0031 others(135): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0302 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0044 a0001c0001t0003g0062 a0001c0001t0003g0113 a0001c0001t0004g0059 a0001c0001t0004g0083 a0001c0001t0004g0098 a0001c0001t0005g0202 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0246 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0265 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0005g0293 a0001c0001t0005g0300 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0005g0316 a0001c0001t0006g0016 a0001c0001t0006g0022 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0071 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0263 a0001c0001t0007g0288 a0001c0001t0007g0312 a0001c0001t0008g0215 a0001c0001t0008g0243 a0001c0001t0008g0303 a0001c0001t0008g0309 a0001c0001t0009g0209 a0001c0001t0009g0210 a0001c0001t0009g0245 a0001c0001t0009g0254 a0001c0001t0009g0262 a0001c0001t0009g0267 a0001c0001t0009g0280 a0001c0001t0009g0291 a0001c0001t0010g0108 a0001c0001t0020g0187 a0001c0001t0022g0287 a0001c0002t0001g0117 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0003g0120 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0004g0137 a0001c0002t0004g0145 a0001c0002t0004g0168 a0001c0002t0006g0150 a0001c0002t0006g0163 a0001c0002t0006g0164 a0001c0002t0006g0165 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0010g0179 a0001c0002t0014g0167 a0001c0002t0015g0143 a0001c0002t0016g0134 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0009t0007g0310 a0001c0012t0001g0119 a0001c0015t0002g0323 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0007g0218 a0002c0004t0008g0216 a0003c0005t0002g0192 a0003c0005t0002g0194 a0003c0005t0007g0191 a0003c0005t0008g0195 a0003c0005t0008g0196 a0007c0007t0007g0307	138	324	0.4259	-63	c.139 others(82): Show c.1396-4111_1396-4049delCAGCAAATCATCTGAAGTGCGTTTAT TCCCCACAGACAGGAAGCAAGGGTGGTAGAAGATGAG		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	9/11						chr10	TogoVar
TCF12_chr15_56913644_57294853	57071537	AGGCAGGA others(56): Show AGGCAGGAGAATCTCTAGAGCCCGGGAGGCGGAGGTTAGAATGAGCCTTA CTACACTCTAGCCT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	330	0.0030	-63	c.222 others(80): Show c.222+7717_222+7779delCAGGAGAATCTCTAGAGCCCGGGAGGCG GAGGTTAGAATGAGCCTTACTACACTCTAGCCTGG		TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
TENT4B_chr16_50148306_50240310	50149398	GGCTGGTC others(56): Show GGCTGGTCTTGAACTTCTGGGCTCAAGTGATCTTCCTGCCTCAGCCTCCC AAAGTACTGGGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	312	0.0032	-63	c.-42 others(74): Show c.-4223_-4161delGCTGGTCTTGAACTTCTGGGCTCAAGTGATCTTC CTGCCTCAGCCTCCCAAAGTACTGGGATT		TENT4B	ENSG00000121274.14	transcript	ENST00000561678.7	protein_coding					3907		chr16	TogoVar
TEX13C_chrX_125314871_125330214	125321662	CTGGTCCC others(56): Show CTGGTCCCCCTGGGGGACAGCAAGAGTCACAGGATGAAGAAAGATCCAGT GATGCCCCAGAAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp1 HG01071.hp1 HG01081.hp1 others(8): Show HG01070.hp1 HG01071.hp1 HG01081.hp1 HG02280.hp1 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 NA18522.hp1 NA19043.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0014 a0006c0005t0015 a0006c0005t0004 a0006c0005t0014 a0006c0005t0015	a0006c0005t0004g0001 a0006c0005t0014g0004 a0006c0005t0015g0004 a0006c0005t0004g0001 a0006c0005t0014g0004 a0006c0005t0015g0004	11	303	0.0363	-63	c.156 others(72): Show c.1565_1627delAGAGTCACAGGATGAAGAAAGATCCAGTGATGCCCC AGAAGATGGTCCCCCTGGGGGACAGCA	p.Lys others(13): Show p.Lys522_Ser542del	TEX13C	ENSG00000282815.2	transcript	ENST00000695840.1	protein_coding	1/2	1814/4765	1565/2982	522/993		INFO_REALIGN_3_PRIME	chrX	TogoVar
TFDP1_chr13_113579753_113646473	113626051	TCTCTCAC others(56): Show TCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAG GTGTCTCTCACGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02145.hp1 others(10): Show HG00639.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02895.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0029 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0292 a0001c0001t0001g0303	13	348	0.0374	-63	c.186 others(80): Show c.186+2766_186+2828delCTCTCACATGTCCTCAGGTGTCTCTCAC GTGTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTG		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11						chr13	TogoVar
THADA_chr2_43225851_43601038	43515240	ATAATATA others(56): Show ATAATATATTATATATAATATATAATATATAATATATAATATATTATATA TAATATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02572.hp1 others(1): Show HG02055.hp1 HG02055.hp2 HG02572.hp1 NA18522.hp1	a0008 a0008	a0008c0012 a0008c0031 a0008c0012 a0008c0031	a0008c0012t0001 a0008c0031t0001 a0008c0012t0001 a0008c0031t0001	a0008c0012t0001g0015 a0008c0012t0001g0016 a0008c0012t0001g0018 others(1): Show a0008c0012t0001g0015 a0008c0012t0001g0016 a0008c0012t0001g0018 a0008c0031t0001g0161	4	206	0.0194	-63	c.337 others(82): Show c.3375-6523_3375-6461delCATATTATATATTATATATAATATAT TATATATTATATATTATATATTATATATAATATATTA		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37						chr2	TogoVar
THEG_chr19_356747_381026	361674	TTCCGACT others(56): Show TTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGCTTT GACTGTGGCTGTCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0047 a0016c0022t0047	a0016c0022t0047g0133 a0016c0022t0047g0133	1	370	0.0027	-63	c.46 others(72): Show c.463_*525delCGACAGCCACAGTCAAAGCAGCTGACGCTCCTCCTG AGGGCCCACGGGACCGTCGGAGTCGGA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					72		chr19	TogoVar
THSD7B_chr2_136760545_137682718	136890344	TTCTTCTT others(56): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG03579.hp2 others(1): Show HG02622.hp1 HG02717.hp2 HG03579.hp2 HG03669.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0003 a0003c0002 a0006c0046 others(1): Show a0002c0003 a0003c0002 a0006c0046 a0006c0048	a0002c0003t0001 a0003c0002t0001 a0006c0046t0004 others(1): Show a0002c0003t0001 a0003c0002t0001 a0006c0046t0004 a0006c0048t0005	a0002c0003t0001g0070 a0003c0002t0001g0005 a0006c0046t0004g0017 others(1): Show a0002c0003t0001g0070 a0003c0002t0001g0005 a0006c0046t0004g0017 a0006c0048t0005g0093	4	98	0.0408	-63	c.139 others(80): Show c.139+8060_139+8122delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TM4SF4_chr3_149469697_149508394	149503762	AATAGGCT others(56): Show AATAGGCTGCACCACGTAGGTCAGGCACACTGAAAACTGGGTTTGTCAAA GCCATCAATAAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0164 a0001c0002t0003g0164	1	420	0.0024	-63	c.10 others(74): Show c.1070_*1132delATAGGCTGCACCACGTAGGTCAGGCACACTGAAA ACTGGGTTTGTCAAAGCCATCAATAAAGT		TM4SF4	ENSG00000169903.7	transcript	ENST00000305354.5	protein_coding					369		chr3	TogoVar
TMC6_chr17_78102397_78133755	78115618	AGCGAAGG others(56): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02148.hp2 HG02965.hp2 others(4): Show HG02109.hp2 HG02148.hp2 HG02965.hp2 HG03516.hp1 NA18945.hp2 NA19007.hp2 NA19064.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0035 a0003c0003 others(2): Show a0001c0001 a0001c0035 a0003c0003 a0004c0006 a0007c0007	a0001c0001t0015 a0001c0035t0001 a0003c0003t0001 others(4): Show a0001c0001t0015 a0001c0035t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0004c0006t0024 a0007c0007t0009	a0001c0001t0015g0274 a0001c0035t0001g0348 a0003c0003t0001g0409 others(4): Show a0001c0001t0015g0274 a0001c0035t0001g0348 a0003c0003t0001g0409 a0003c0003t0003g0386 a0003c0003t0004g0357 a0004c0006t0024g0028 a0007c0007t0009g0063	7	444	0.0158	-63	c.227 others(82): Show c.2277+1588_2277+1650delCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM132B_chr12_125181386_125667369	125410319	TGGAGTGG others(56): Show TGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGAGTGGAGTG GAGTGGAGTGGAGT	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0019 a0002c0001t0013g0019	1	128	0.0078	-63	c.960 others(80): Show c.960-5210_960-5148delGAGTGGAGTGGAGTGGAGTGAGTGGAGT GGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTG		TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129402776	TGGTGGGA others(56): Show TGGTGGGACAGCCACCATCTGCAGCAATGGAAGAGCTTGTGTGAGATTGA GGACTGGGTCCTGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02647.hp1 others(4): Show HG02145.hp1 HG02451.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG03453.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0003t0026	a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0003g0032 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0001t0003g0032 a0001c0001t0006g0067 a0001c0001t0007g0014 a0001c0001t0010g0034 a0002c0003t0026g0093	7	94	0.0745	-63	c.111 others(84): Show c.1116-65022_1116-64960delCCAGGACCCAGTCCTCAATCTCAC ACAAGCTCTTCCATTGCTGCAGATGGTGGCTGTCCCACC		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8						chr12	TogoVar

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