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 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
SBNO2_chr19_1102638_1179268	1164823	G G	GCAGGAGG others(164): Show GCAGGAGGAGGAGGAGGAGGAGAAACAGGTGTTAGGACACTGTGGGGACG TCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGGAGGAGGAAG AGGAAGAACAGGAGGACGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(43): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02647.hp2 HG02683.hp2 HG03239.hp1 HG03471.hp2 HG04115.hp2 HG04228.hp2 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA19057.hp2 NA19080.hp2 NA19088.hp1 NA20805.hp2 NA21309.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0009 a0000c0042 a0001c0001 others(12): Show a0000c0009 a0000c0042 a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0034 a0001c0036 a0001c0037 a0001c0040 a0002c0003 a0002c0008 a0003c0012 a0004c0039	a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 others(13): Show a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0040t0001 a0002c0003t0001 a0002c0008t0001 a0003c0012t0002 a0004c0039t0001	a0000c0009t0001g0152 a0000c0009t0001g0172 a0000c0009t0003g0171 others(43): Show a0000c0009t0001g0152 a0000c0009t0001g0172 a0000c0009t0003g0171 a0000c0042t0001g0124 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0006t0001g0013 a0001c0007t0001g0150 a0001c0034t0001g0148 a0001c0036t0001g0138 a0001c0037t0001g0202 a0001c0040t0001g0139 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0161 a0002c0008t0001g0136 a0003c0012t0002g0178 a0004c0039t0001g0137	46	203	0.2266	171	c.-12 others(190): Show c.-127+9348_-127+9349insTCCTCGTCCTCCTGTTCTTCCTCTTC CTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT CCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCGGCATCTGGGACGTC CCCACAGTGTCCTAACACCTGTTTCTCCTCCTCCTCCTCCTCCTG		SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31						chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(164): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0037 a0001c0002t0013g0037	1	332	0.0030	171	c.632 others(188): Show c.632+8142_632+8312dupCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCART1_chr10_133448945_133474760	133454158	T T	TGCCGTCT others(164): Show TGCCGTCTGCCTGGGTCTCACTCAGCCCAGAGTGGGTGGGACATGCTGGG GCAGGAGGGAGGTGACTCCACATGGCTGGATCCCTGTGACCTCAGGGCCC CCAGACCCTAGCCCCACTGCTTGGAACCCAGGGTTCAGGGCTGGGTCAGG CCCTGGACAAAATGAGGGACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0004 a0020c0055t0004	a0020c0055t0004g0047 a0020c0055t0004g0047	1	434	0.0023	171	c.67+ others(183): Show c.67+96_67+266dupCCGTCTGCCTGGGTCTCACTCAGCCCAGAGTGG GTGGGACATGCTGGGGCAGGAGGGAGGTGACTCCACATGGCTGGATCCCT GTGACCTCAGGGCCCCCAGACCCTAGCCCCACTGCTTGGAACCCAGGGTT CAGGGCTGGGTCAGGCCCTGGACAAAATGAGGGACACG		SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
SEMA3E_chr7_83358238_83654139	83617510	A A	ATTTTATA others(164): Show ATTTTATATAAATAATATATAATTTTATATAAATTTTATATAAATAATAT ATAATTTTATATAAATTTTATATAAGTAATATATAATTTTATATAAATTT TATATAAGTAATATATAATTTTATATAAATTTTATATAAGTAATATATAA TTTTATATAAATTTTATATAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0040 a0001c0006t0047g0040	1	226	0.0044	171	c.115 others(190): Show c.115+30917_115+30918insCTTATATAAAATTTATATAAAATTAT ATATTACTTATATAAAATTTATATAAAATTATATATTACTTATATAAAAT TTATATAAAATTATATATTACTTATATAAAATTTATATAAAATTATATAT TATTTATATAAAATTTATATAAAATTATATATTATTTATATAAAA		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16						chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(164): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGGAAGGAAGGGAAGGAAA TGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAGGAAAG GAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0134 a0001c0002t0082g0134	1	134	0.0075	171	c.125 others(190): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTC CTTCCCTTCCTTCCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCT TCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22						chr5	TogoVar
SERINC2_chr1_31408213_31439678	31431804	A A	ATAGGGTG others(164): Show ATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGTTAGAGTGGA GAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	376	0.0027	171	c.101 others(190): Show c.1014-1163_1014-1162insTAGGGTGGATAGGGTGGTTAGGGTGG TTAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGACAGGGTGGTTAGAGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGT		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9						chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431967	T T	TAGGGTGG others(164): Show TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGA TGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGAG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0176 a0002c0006t0008g0176	1	376	0.0027	171	c.101 others(188): Show c.1014-992_1014-991insCAGGGTGGACAGGGTGGATAGGGTGGTT AGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432128	A A	ATAGGGTG others(164): Show ATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGATGGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0210 a0001c0004t0008g0210	1	376	0.0027	171	c.101 others(188): Show c.1014-830_1014-829insGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGATGGTTAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(164): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTCAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0234 a0001c0004t0003g0234	1	376	0.0027	171	c.101 others(188): Show c.1014-777_1014-776insATAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGATGGTCAGGGTGGACAGGGTGGATAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCG_chr13_23175979_23330162	23197967	A A	ACACTGAA others(164): Show ACACTGAAAAAAGCTTTGTAGATACGTGTTGAATGAACTGTTGAAAGCAA AGTGGTGGAAATTTGTACCAGAAAAACATTGAAACCAAAAGTGGCATACC AAAGTCAGTATCAGACAGATAACTTCGAACTATTATAACTCATTCTTTGA GTTCTTAGATAGAATTAAATGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02109.hp1 HG02258.hp1 others(9): Show HG01978.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03540.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0003 a0001c0003t0003 a0001c0003t0008 a0001c0003t0013 a0001c0004t0003 a0001c0014t0003 a0002c0006t0003	a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0002g0128 others(9): Show a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0002g0128 a0001c0001t0017g0124 a0001c0002t0003g0129 a0001c0003t0003g0123 a0001c0003t0008g0069 a0001c0003t0013g0212 a0001c0004t0003g0244 a0001c0014t0003g0070 a0002c0006t0003g0095 a0002c0006t0003g0126	12	354	0.0339	171	c.1-5 others(184): Show c.1-5725_1-5555dupCTGAAAAAAGCTTTGTAGATACGTGTTGAATG AACTGTTGAAAGCAAAGTGGTGGAAATTTGTACCAGAAAAACATTGAAAC CAAAAGTGGCATACCAAAGTCAGTATCAGACAGATAACTTCGAACTATTA TAACTCATTCTTTGAGTTCTTAGATAGAATTAAATGTCA		SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(164): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG GGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	302	0.0033	171	c.75- others(186): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66659950	A A	AAGAAAAA others(164): Show AAGAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGGAAGAAAGGAAGGAAGGA AGGAAGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	302	0.0033	171	c.460 others(186): Show c.460-562_460-561insGAAAAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAAAAGAAAGAAAAGAAAGAAAAGAAAGAAAG GAAGAAAGGAAGGAAGGAAGGAAGAAGGAAGGAAGGAAGGA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134193824	A A	AGAGGGGA others(164): Show AGAGGGGAGGGGAGAAGGGAGGAGAGGGGAGGAGAGGGGAGGGGAGGGGA GGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGAGAAGGGA GGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGAGAGGGGAGGGGAGGGGA GGGAAGGGAGGGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0245 a0001c0001t0004g0245	1	250	0.0040	171	c.361 others(190): Show c.361+13531_361+13532insCCTTCTCCTCCCCTCCCTTCCCTCCC CTCCCCTCCCCTCTCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCCTCCC TTCTCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCC CTCCCCTCCCCTCTCCTCCCCTCTCCTCCCTTCTCCCCTCCCCTC		SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13						chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GATGGGGA others(164): Show GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	316	0.0032	171	c.257 others(190): Show c.2578-6863_2578-6862insTCATCTTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT		SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23						chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(164): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0175 a0001c0001t0025g0175	1	214	0.0047	171	c.691 others(190): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(164): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	214	0.0047	171	c.691 others(190): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCC		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(164): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0188 a0002c0004t0001g0188	1	330	0.0030	171	c.970 others(190): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6						chr1	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(164): Show GGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCG GCGGTGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	330	0.0030	171	c.970 others(190): Show c.970-22243_970-22242insGACGCCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GCGGACGCCCGAGAGGACAGGCGGCGGTGGAGATCTTCAGAGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6						chr1	TogoVar
SLC27A5_chr19_58493333_58516992	58502215	G G	GGTGACAG others(164): Show GGTGACAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTTAGAGTAGT GAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTGGATGG ATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGAG TAGTGAGTGAGAAGATGGATGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02258.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0085 a0001c0003t0001g0082 a0001c0003t0001g0085	2	424	0.0047	171	c.105 others(188): Show c.1058-806_1058-805insACATCCATCTTCTCACTCACTACTCTGT CCACCCATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCC ACTCACTCACTACTCTAACTGTTCACCCATCCATCTTCTCACTCACTACT CTAACTGTTCACCCATCCATCTACTCACTCACTACTCTGTCAC		SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9						chr19	TogoVar
SLC37A1_chr21_42508852_42586426	42579528	T T	TCATCAGA others(164): Show TCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGC CCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCACATC AGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGC CCTCATCAGACAGCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	356	0.0028	171	c.152 others(188): Show c.1522-190_1522-189insTCATCAGACAGCCCTGCCCTCATCAGAC AGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCAC ATCAGACAGCCCTGCCCTCATCAGACAGCCCTGCCCTCATCAGACAGCCC TGCCCTCATCAGACAGCCCTGCCCACATCAGACAGCCCTGCCC		SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(164): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTC TCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	410	0.0024	171	c.152 others(188): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA		SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10						chr19	TogoVar
SLC9A3_chr5_465456_529449	474624	A A	AGGAGAGA others(164): Show AGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTGC GGAGAGGGGTTAGGCGGGGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAGG GAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTG CGGAGAGGGGTTAGGCGGGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG02056.hp2 others(6): Show HG00408.hp2 HG01109.hp1 HG02056.hp2 HG02165.hp1 HG03710.hp2 NA18942.hp1 NA18943.hp1 NA18975.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0029 a0002c0002t0002 a0002c0002t0003 a0002c0002t0029	a0002c0002t0002g0036 a0002c0002t0002g0075 a0002c0002t0002g0076 others(6): Show a0002c0002t0002g0036 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0003g0200 a0002c0002t0029g0179	9	218	0.0413	171	c.250 others(187): Show c.2501+88_2501+258dupCTCCCCGCCTAACCCCTCTCCGCAGCTCC TCTCCCTCCAGGTCTCCGCCTCGCGCGCGCTGTCTCTCTCCTCCCTGGAC CTGAACCTGGCTCGCTCTCTCTCTCCCCGCCTAACCCCTCTCCGCAGCTC CTCTCCCTCCAGGTCTCCGCCTCGCGCGCGCTGTCTCTCTCC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16						chr5	TogoVar
SMYD3_chr1_245744347_246512279	246072113	A A	ATGCTTCC others(164): Show ATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTC ACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCAC TGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGC TTTCCACTGTGCTCACTGTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	150	0.0067	171	c.532 others(192): Show c.532-142177_532-142176insAAGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGT GGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325070	G G	GGGGGGCA others(164): Show GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGAGCGGGAAG GAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CAGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19088.hp2 NA18984.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0069 a0001c0002t0001g0073 a0001c0001t0001g0069 a0001c0002t0001g0073	2	150	0.0133	171	c.531 others(188): Show c.531+2130_531+2131insGACTCCTTCTCCCTCCTTCCTGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCC GCTCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(164): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATTATATAACATGATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0231 a0001c0004t0033g0231	1	356	0.0028	171	c.-11 others(192): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATTATATAACATGATGATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(164): Show CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0019 a0001c0005t0003g0019	1	418	0.0024	171	c.54 others(182): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG		SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding					3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(164): Show AGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	260	0.0039	171	c.138 others(190): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCC		SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15						chr1	TogoVar
SSC5D_chr19_55483436_55524099	55517836	C C	CCACCACC others(164): Show CCACCACCATCACTCACTCCACCATGATTCCTGACCCCACCACAACCCCT CAACCCTTCACCACCATCACTCACTCCACCATGATTCCTGACCCCACCAC AACCCCTCAACCCTTCACCACCATCACTCACTCCACCATGATTCCTGACC CCACCACAACCCCTCAACCCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03471.hp2 HG03471.hp2	a0037 a0037	a0037c0081 a0037c0081	a0037c0081t0001 a0037c0081t0001	a0037c0081t0001g0409 a0037c0081t0001g0409	1	412	0.0024	171	c.368 others(180): Show c.3683_3684insCACTCACTCCACCATGATTCCTGACCCCACCACAAC CCCTCAACCCTTCACCACCATCACTCACTCCACCATGATTCCTGACCCCA CCACAACCCCTCAACCCTTCACCACCATCACTCACTCCACCATGATTCCT GACCCCACCACAACCCCTCAACCCTTCACCACCAT	p.Thr others(186): Show p.Thr1227_Met1228insIleThrHisSerThrMetIleProAspPro ThrThrThrProGlnProPheThrThrIleThrHisSerThrMetIlePr oAspProThrThrThrProGlnProPheThrThrIleThrHisSerThrM etIleProAspProThrThrThrProGlnProPheThrThr	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	14/14	3838/4977	3684/4722	1228/1573		INFO_REALIGN_3_PRIME	chr19	TogoVar
STX8_chr17_9245471_9580820	9430044	A A	ATATAATA others(164): Show ATATAATATATAATATAATATATTATATATAATATATTATATATTATATA TATATTATATATAATATTTATATATAATATATATATATAATATATATTAT ATATTATATATATATTATATATAATATATATATAATATATAATATATATT ATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	188	0.0053	171	c.542 others(190): Show c.542-51392_542-51391insATATATATAATATATAATATATAATA TATATTATATATTATATATATATTATATATAATATATATATAATATATAA TATATATTATATATATATATTATATATAAATATTATATATAATATATATA TAATATATAATATATTATATATAATATATTATATTATATATTATA		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7						chr17	TogoVar
SUMO3_chr21_44800617_44823062	44817899	G G	GGCGGGGC others(164): Show GGCGGGGCGCGCCGCCGAGCGCAGCCGGGCGGGGGAGGGGAGCGGCGCGG CCGGACGGGAGCGGGGGAGGGGCGGGGGCGCGGGGCGGCGCCGCAGGCCT GGGCGCCGGGGTCCCCGTGGGCGCCGCCGTCTCCAAGGGCCGCAGGAGCG GCGCCGCGGCGGCGGAGGCGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	406	0.0025	171	c.21+ others(182): Show c.21+48_21+49insGGCGCCTCCGCCGCCGCGGCGCCGCTCCTGCGGC CCTTGGAGACGGCGGCGCCCACGGGGACCCCGGCGCCCAGGCCTGCGGCG CCGCCCCGCGCCCCCGCCCCTCCCCCGCTCCCGTCCGGCCGCGCCGCTCC CCTCCCCCGCCCGGCTGCGCTCGGCGGCGCGCCCCGC		SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	1/3						chr21	TogoVar
SYNDIG1_chr20_24464629_24671616	24661327	A A	AAACCGAG others(164): Show AAACCGAGGGAAGAGGGAGGGAGGAAAGAGGGAGGAGGTAGGAAAGAAGG AGGAGTTAGGAAGGAGGGAGGAAGGAAGGAGGAAAGAGGGAGGAAGTAGG AAGGAGGGAGGGAAGAGGGAGGAAGAAGGGAGGAAAGAAGGAGGAGGTAG GAAGGAGAGAGGGAAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01099.hp1 others(3): Show HG00280.hp2 HG00738.hp2 HG01099.hp1 HG02148.hp2 HG02280.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0199	6	270	0.0222	171	c.619 others(188): Show c.619-4019_619-4018insAACCGAGGGAAGAGGGAGGGAGGAAAGA GGGAGGAGGTAGGAAAGAAGGAGGAGTTAGGAAGGAGGGAGGAAGGAAGG AGGAAAGAGGGAGGAAGTAGGAAGGAGGGAGGGAAGAGGGAGGAAGAAGG GAGGAAAGAAGGAGGAGGTAGGAAGGAGAGAGGGAAGAGGGAG		SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3						chr20	TogoVar
TALDO1_chr11_742464_770012	763299	T T	TCCCCGCC others(164): Show TCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCGTCCC CGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGC CCTCACCGTCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCT CACCGCCCCCGCCCTCACCCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	416	0.0048	171	c.462 others(184): Show c.462-32_462-31insCATCCCCGCCCTCACCGTCCCCGCCCTCACCG TCCCCGCCCTCACCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCGTCC CCGCCCTCACCGTCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCG CCCTCACCGCCCCCGCCCTCACCCGCCCCCGCCCTCACC		TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
TBATA_chr10_70766238_70790377	70767592	A A	AAGAAAGA others(164): Show AAGAAAGAGACAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGA GAAAGAGAGAAAGAGAGAGAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAGAAAG AGAGAGAAAGAGAGGGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	410	0.0024	171	c.37 others(182): Show c.3783_*3784insCTCTCTCCCTCTCTTTCTCTCTCTTTCTCTTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTCTCTCTCTCTCT CTCTCTCTCTTTCTCTCTTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTGTCTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3645		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767623	A A	AGAAAGAA others(164): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAAAGAGAGAAAGAG AGAAAGAGAGAAAGAGAGAAAGAGAGAGAAAGAGAGAAAGAGAGAAGAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0020 a0002c0004t0001g0020	1	410	0.0024	171	c.37 others(182): Show c.3752_*3753insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTTCTCTCT TTCTCTCTTTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3614		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767624	A A	AAGAAAGA others(164): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGAGAAGAGAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	410	0.0024	171	c.37 others(182): Show c.3751_*3752insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTCTCTTCTCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding					3613		chr10	TogoVar
TCF3_chr19_1604292_1657615	1627818	C C	CGGGAAGG others(164): Show CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0247 a0001c0003t0002g0247	1	352	0.0028	171	c.299 others(186): Show c.299-393_299-392insACCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1627853	C C	CGGGAAGG others(164): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0303 a0001c0004t0086g0303	1	352	0.0028	171	c.299 others(186): Show c.299-428_299-427insACCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1627919	G G	GAGGCGGG others(164): Show GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACAGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18970.hp2 NA19012.hp1 others(2): Show HG02027.hp1 NA18970.hp2 NA19012.hp1 NA19078.hp2 NA19080.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0031 a0001c0002 a0011c0031	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0011c0031t0048	a0001c0002t0001g0212 a0001c0002t0001g0265 a0001c0002t0002g0264 others(2): Show a0001c0002t0001g0212 a0001c0002t0001g0265 a0001c0002t0002g0264 a0001c0002t0005g0328 a0011c0031t0048g0043	5	352	0.0142	171	c.299 others(186): Show c.299-494_299-493insTACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCTGTGAGTTCTGCTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628084	C C	CAGGGGAT others(164): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG AAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0086 a0001c0004t0086	a0001c0004t0086g0303 a0001c0004t0086g0303	1	352	0.0028	171	c.299 others(186): Show c.299-659_299-658insTGTGAGCTCTGCTGTCCCCTTTCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCT		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628150	T T	TCATGGGG others(164): Show TCATGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGT GGGAAGGGGACAGCAGAGCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0102 a0001c0004t0102	a0001c0004t0102g0344 a0001c0004t0102g0344	1	352	0.0028	171	c.299 others(186): Show c.299-725_299-724insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCATG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628225	G G	GTGAGGCG others(164): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGG ACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03704.hp2 HG01109.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0046 a0001c0005t0040 a0001c0002t0046 a0001c0005t0040	a0001c0002t0046g0039 a0001c0005t0040g0006 a0001c0002t0046g0039 a0001c0005t0040g0006	2	352	0.0057	171	c.299 others(186): Show c.299-800_299-799insTCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCC CGCCTCATCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628702	G G	GGGGGTGA others(164): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA20129.hp2 HG04115.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0011 a0001c0005t0004g0027 a0001c0005t0004g0011 a0001c0005t0004g0027	2	352	0.0057	171	c.299 others(188): Show c.299-1277_299-1276insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628765	G G	GCTCACGG others(164): Show GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATG AGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0251 a0001c0004t0008g0251	1	352	0.0028	171	c.299 others(188): Show c.299-1340_299-1339insTTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628878	A A	AGGCGGGA others(164): Show AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGGAC AGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGGG ACAGCAGAGCTCATGGGGATGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18612.hp2 NA19074.hp1 HG00558.hp2 NA18612.hp2 NA19074.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0002 a0003c0006t0010 a0003c0006t0001 a0003c0006t0002 a0003c0006t0010	a0003c0006t0001g0125 a0003c0006t0002g0077 a0003c0006t0010g0124 a0003c0006t0001g0125 a0003c0006t0002g0077 a0003c0006t0010g0124	3	352	0.0085	171	c.299 others(188): Show c.299-1453_299-1452insCCATCCCCATGAGCTCTGCTGTCCCCTT CACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCC TTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628912	G G	GGTGGGAA others(164): Show GGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGAT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGGA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0054 a0002c0001t0007g0054	1	352	0.0028	171	c.299 others(188): Show c.299-1487_299-1486insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCC TGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCAC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TECTA_chr11_121096243_121196490	121185394	G G	GAATGAGT others(164): Show GAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0189 a0003c0007t0001g0189	1	348	0.0029	171	c.600 others(190): Show c.6000-2413_6000-2412insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185639	G G	GAATGAGT others(164): Show GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19043.hp2 HG02257.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0007 a0001c0014t0006 a0001c0011t0007 a0001c0014t0006	a0001c0011t0007g0317 a0001c0014t0006g0316 a0001c0011t0007g0317 a0001c0014t0006g0316	2	348	0.0058	171	c.600 others(190): Show c.6000-2170_6000-2169insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTT		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185838	C C	CAATGCTT others(164): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01175.hp1 others(1): Show HG00642.hp2 HG00741.hp2 HG01175.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0002 a0003c0004t0002 a0001c0005t0002 a0003c0004t0002	a0001c0005t0002g0099 a0003c0004t0002g0007 a0003c0004t0002g0082 a0001c0005t0002g0099 a0003c0004t0002g0007 a0003c0004t0002g0082	4	348	0.0115	171	c.600 others(190): Show c.6000-1958_6000-1957insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1273366	C C	CCACACAT others(164): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACG ACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	392	0.0026	171	c.228 others(190): Show c.2287-1087_2287-1086insTGGTGACTGTGGATGGTGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCCT others(164): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0026 a0001c0001t0027g0026	1	374	0.0027	171	c.72 others(182): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA		THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding					3277		chr1	TogoVar

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