Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(297): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGTTT GATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAATT GATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGATG GAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGATGC ATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGATGG ATGGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02129.hp1 HG02040.hp2 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	2	296	0.0068	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATG GTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGG AATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATA GATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGG ATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGG ATGGATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(297): Show TGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGT TTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAA TTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAGA TGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGAT GCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGAT GGATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(45): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02135.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18966.hp1 NA18971.hp2 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp2 NA19080.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(38): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0003t0001g0030 a0001c0003t0001g0073 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0003t0003g0015 a0001c0003t0003g0028 a0001c0003t0003g0072 a0001c0003t0003g0132 a0001c0003t0003g0135 a0001c0005t0001g0134	48	265	0.1811	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATG GATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGA ATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGG AATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGG ATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGG ATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596253	T T	TGGATGGA others(297): Show TGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGGT TTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGAA TTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGCAATAGA TGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGAT GCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGAT GGATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0224 a0001c0002t0002g0224	1	353	0.0028	304	c.831 others(321): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATG GATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGG ATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAG TTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGA ATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGA ATGGATGGATGGATGGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(297): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03942.hp1 HG03098.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0021 a0001c0001t0018 a0001c0001t0021	a0001c0001t0018g0128 a0001c0001t0021g0018 a0001c0001t0018g0128 a0001c0001t0021g0018	2	71	0.0282	304	c.100 others(323): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(297): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 HG01168.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0219 a0001c0001t0001g0041 a0001c0001t0001g0219	2	301	0.0066	304	c.148 others(323): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(297): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	208	0.0048	304	c.115 others(321): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCTCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(297): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	208	0.0048	304	c.115 others(321): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCAGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414500	G G	GGAAGGCA others(297): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCT GGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGTCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGG GCAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0135 a0001c0003t0008g0135	1	371	0.0027	304	c.115 others(321): Show c.1156+190_1156+191insTCTGCCCTGACCCTCCCGGCCCCCCACC CAGCGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(297): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGG GTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCG CCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20300.hp2 HG01192.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	2	317	0.0063	304	c.265 others(321): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(297): Show TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01257.hp1 others(3): Show HG00733.hp1 HG01074.hp2 HG01257.hp1 HG02300.hp1 HG02300.hp2 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0043 a0001c0003t0005g0086 a0001c0003t0005g0087 others(3): Show a0001c0003t0005g0043 a0001c0003t0005g0086 a0001c0003t0005g0087 a0001c0003t0005g0236 a0001c0003t0005g0237 a0001c0003t0005g0238	6	134	0.0448	304	c.-13 others(321): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCA AGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(297): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACAGAGATATACAGAGACACATGTACACACATGCACACACATACA GGTACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACA CATGCACACGCACACACATACAGATACACAGATACACATGCACATACAGA TACACAGAGATACACATGTACACACATACAGGTATGCAGATACACATGCA CATATGCACACGTGCACACACGCACACACGTACAGATACACAGAGACACG TACAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02015.hp2 HG02040.hp2 others(13): Show HG00323.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02148.hp1 HG02886.hp2 HG03017.hp1 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2 NA20752.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0029 a0002c0004 a0011c0023	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0011 a0001c0002t0035 a0001c0002t0051 a0001c0003t0001 a0001c0003t0002 a0001c0029t0061 a0002c0004t0002 a0002c0004t0005 a0002c0004t0047 a0011c0023t0009	a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0005g0014 others(13): Show a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0005g0014 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0002t0001g0143 a0001c0002t0011g0112 a0001c0002t0035g0020 a0001c0002t0051g0004 a0001c0003t0001g0081 a0001c0003t0002g0073 a0001c0029t0061g0162 a0002c0004t0002g0013 a0002c0004t0005g0110 a0002c0004t0047g0134 a0011c0023t0009g0122	16	103	0.1553	304	c.481 others(321): Show c.481-8410_481-8409insTATGCACACATGCACACACACAGAGATA TACAGAGACACATGTACACACATGCACACACATACAGGTACACGGAGATA CATATGCACACGCATACAGGCACACAGAGATACACACATGCACACGCACA CACATACAGATACACAGATACACATGCACATACAGATACACAGAGATACA CATGTACACACATACAGGTATGCAGATACACATGCACATATGCACACGTG CACACACGCACACACGTACAGATACACAGAGACACGTACAGATGCACACA CATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(297): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACAGAGATATACAGAGACACATGTACACACATGCACACACATACA GGTACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACA CATGCACACGCACACACATACAGATACACAGATACACATGCACATACAGA TACACAGAGATACACATGTACACACATACAGGTATGCAGATACACATGCA CATATGCACACGTGCACACATGCACACACGTACAGATACACAGAGACACG TACAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0076 a0001c0002t0007g0076	1	88	0.0114	304	c.481 others(321): Show c.481-8410_481-8409insTATGCACACATGCACACACACAGAGATA TACAGAGACACATGTACACACATGCACACACATACAGGTACACGGAGATA CATATGCACACGCATACAGGCACACAGAGATACACACATGCACACGCACA CACATACAGATACACAGATACACATGCACATACAGATACACAGAGATACA CATGTACACACATACAGGTATGCAGATACACATGCACATATGCACACGTG CACACATGCACACACGTACAGATACACAGAGACACGTACAGATGCACACA CATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724480	G G	GTGATGAT others(297): Show GTGATGATGGTGGTGGTGATGGTGGTGATAGGGTGGTGGTGATGGTGATA GTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGGTGGTGGTGTTGG TGATGGTGGTGATAGTGCTGGTGAGGATGGTGATGGTGGTGATGGTGGTG GTGATGGCAGTGATGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGAT GGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGG TGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0020 a0001c0002t0035g0020	1	97	0.0103	304	c.261 others(321): Show c.2611+602_2611+603insATGGTGGTGGTGATGGTGGTGATAGGGT GGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTG ATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGCTGGTGAGGATGGTGAT GGTGGTGATGGTGGTGGTGATGGCAGTGATGATGGTGGAGGTGATGGTGG TAGTTATGGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATG GTGGTGATAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORD_chr15_45018195_45082185	45072613	T T	TAAAGAAT others(297): Show TAAAGAATGGGAAGGCCGGGCGTGGCGGCTCATGCCTGTAATCCCAGCAC TTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAGCATC CTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAAAATTAGCC AGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCGGAGATCGC ACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCTCAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01109.hp1 others(19): Show HG00639.hp2 HG01074.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02280.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA18957.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0006c0012	a0001c0001t0037 a0001c0001t0041 a0002c0002t0002 others(5): Show a0001c0001t0037 a0001c0001t0041 a0002c0002t0002 a0002c0002t0022 a0002c0002t0036 a0002c0002t0042 a0004c0006t0002 a0006c0012t0002	a0001c0001t0037g0144 a0001c0001t0041g0249 a0002c0002t0002g0010 others(19): Show a0001c0001t0037g0144 a0001c0001t0041g0249 a0002c0002t0002g0010 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0116 a0002c0002t0002g0227 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0255 a0002c0002t0002g0276 a0002c0002t0022g0273 a0002c0002t0036g0117 a0002c0002t0042g0223 a0004c0006t0002g0295 a0006c0012t0002g0103	22	304	0.0724	304	c.908 others(319): Show c.908+186_908+187insAGGCCGGGCGTGGCGGCTCATGCCTGTAAT CCCAGCACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCG AGAGCATCCTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAA AATTAGCCAGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCG GAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCT CAAAAAAAAAAAAAAAGAATGGGA	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(297): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0304 a0001c0004t0009g0304	1	111	0.0090	304	c.-11 others(325): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA7_chr14_88380657_88443460	88392867	G G	GCGATTAC others(297): Show GCGATTACACTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0040 a0006c0005t0001g0040	1	358	0.0028	304	c.95- others(317): Show c.95-512_95-511insTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCACGATTACACTTGTT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(297): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCA GTTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00741.hp1 others(19): Show HG00140.hp2 HG00280.hp2 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01516.hp2 HG01993.hp1 HG02083.hp2 HG02602.hp1 HG02698.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp2 HG03688.hp2 HG04184.hp1 HG04204.hp2 NA18939.hp1 NA18969.hp1 NA18971.hp2 NA19062.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0005 a0006c0023 a0001c0001 a0004c0005 a0006c0023	a0001c0001t0001 a0004c0005t0001 a0006c0023t0001 a0001c0001t0001 a0004c0005t0001 a0006c0023t0001	a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0086 others(19): Show a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0309 a0001c0001t0001g0310 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0006c0023t0001g0249	22	198	0.1111	304	c.245 others(321): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCC AAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(297): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCA GTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 HG02818.hp2 others(2): Show HG00438.hp2 HG02040.hp2 HG02818.hp2 NA18943.hp1 NA19062.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0025 a0001c0001 a0002c0002 a0013c0025	a0001c0001t0003 a0002c0002t0002 a0002c0002t0014 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0014 a0013c0025t0002	a0001c0001t0003g0336 a0002c0002t0002g0274 a0002c0002t0002g0278 others(2): Show a0001c0001t0003g0336 a0002c0002t0002g0274 a0002c0002t0002g0278 a0002c0002t0014g0272 a0013c0025t0002g0268	5	181	0.0276	304	c.245 others(321): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCC AAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(297): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0135 a0007c0008t0001g0135	1	6	0.1667	304	c.138 others(323): Show c.1384-5708_1384-5707insCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATATAAA others(297): Show TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATA TATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAAAATATATATAAATATATATTTATA TAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	74	0.0135	304	c.190 others(323): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2349338	C C	CTCTCTCC others(297): Show CTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTC TCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTCCAC ACACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCACACA ACACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTCCACACACACTCA CGCGCTCTCATTCGCTCGATTCCGTTCTCTCTCCACACGCGCTCTCATTC GCTCGATTCCGTTCTCTCCACACACACTCACGCGCTGTCATTCGCTTGAT TCCGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0084 a0001c0009t0005g0084	1	411	0.0024	304	c.135 others(323): Show c.1355-2090_1355-2089insCACACACACGCACTCTTATTCGCCTG ATTCCGTTCTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATT CCGTTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCG TTCTCTCCCTCCACACAACACTCGCGTTCTCATTCGCGTGATTCCGTTCT CTCTCCACACACACTCACGCGCTCTCATTCGCTCGATTCCGTTCTCTCTC CACACGCGCTCTCATTCGCTCGATTCCGTTCTCTCCACACACACTCACGC GCTGTCATTCGCTTGATTCCGTTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTSSA_chr14_34427788_34467240	34443205	G G	GTGTGTGT others(297): Show GTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTCCTCTCATTACCCA GCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCCTCCCAG GTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAGATGG AGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCA CTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAG GGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	342	0.0029	304	c.113 others(321): Show c.113-7902_113-7901insACACCCTCCCCTAGAAGCAGGAGAATCG CTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCA CTCCAGCTGGGTAATGAGAGGAAAACTCCATCTCAAACACACACACACAC ACACACACACACACACACACACACACACACACACACACACTCACACCCTC CCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGA GCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGGAAAACTCCA TCTCAAAACACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(297): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18963.hp2 HG02132.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0256 a0001c0001t0003g0257	2	302	0.0066	304	c.485 others(319): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(297): Show GCCACACACATATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02897.hp1 others(1): Show HG02723.hp1 HG02886.hp2 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 others(1): Show a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0250	4	304	0.0132	304	c.485 others(319): Show c.485+522_485+523insATTCTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SS18_chr18_26011253_26095613	26081730	A A	AACAGTTT others(297): Show AACAGTTTACTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGTTCACTGCAAGCTCCGCCTCCCGG GTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TCTCACCGTTTTAGCTGGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG01243.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0014 a0001c0004t0005g0015 a0001c0004t0005g0014 a0001c0004t0005g0015	2	309	0.0065	304	c.147 others(321): Show c.147-3571_147-3570insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCAGCTAAAACGGTGAGACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGA ACCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAGAGTAAACTGT	SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	2/10			chr18	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	25	0.0400	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	25	0.0400	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18998.hp2 HG01934.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0154 a0001c0001t0001g0174	2	26	0.0769	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATACACGCATATATGTGAGTATATGTGCATATACACGCATATA TGTGTGTATATGTGCATATACACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	25	0.0400	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATACACGCATATATGTGAGT ATATGTGCATATACACGCATATATGTGTGTATATGTGCATATACACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19012.hp2 HG02004.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0147 a0001c0001t0001g0152	2	26	0.0769	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	25	0.0400	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(297): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp2 NA19240.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0002t0001g0044	3	27	0.1111	304	c.152 others(323): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTATAGTTATATATAT TACATATATGACTATGTATAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	295	0.0034	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TATAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTGTAGTTATATATAT TACATATATGACTATGTATAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01255.hp1 HG01993.hp1 HG00639.hp1 HG01255.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042	3	297	0.0101	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TGTAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241562	T T	TTATATAT others(297): Show TTATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATAT GACTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATA TTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTA GTTATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATG ACTCTGTGTAGTTATATATTACATATATGACTATGTGTAGTTATATATAT TACATATATGACTATGTGTAGTTATATATATTACATATATGACTATGTAT AGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	295	0.0034	304	c.-27 others(315): Show c.-2782_-2781insTATATATATTACATATATGACTCTGTGTAGTTAT ATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACT CTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACAT ATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATA TATATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTATG TGTAGTTATATATATTACATATATGACTATGTGTAGTTATATATATTACA TATATGACTATGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2723		chr12	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(297): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAAC CAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	273	0.0037	304	c.456 others(321): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCAC AGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAACCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTCAGTTTTTGTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SVEP1_chr9_110360248_110584741	110390312	T T	TATATATA others(297): Show TATATATACTTATATATATACTTATATAAGTATATATATACTTATATATA TACTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATA TATACTTATATATATACTTATATAAGTATATATATACTTATATATATACT TATATAAGTATATATATAAGTATATATATACTTATATATATACTTATATA AGTATATATATACTTATATATATACTTATATAAGTATATATATACTTATA TAAGTATATATATACTTATATATATACTTATATAAGTATATATATACTTA TATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp1 HG03453.hp1 NA18906.hp1	a0033 a0033	a0033c0031 a0033c0031	a0033c0031t0004 a0033c0031t0004	a0033c0031t0004g0209 a0033c0031t0004g0210 a0033c0031t0004g0209 a0033c0031t0004g0210	2	354	0.0056	304	c.982 others(321): Show c.9823-726_9823-725insTTATATAAGTATATATATACTTATATAA GTATATATATAAGTATATATATACTTATATAAGTATATATATACTTATAT AAGTATATATATAAGTATATATATACTTATATAAGTATATATATAAGTAT ATATATACTTATATATATACTTATATAAGTATATATATAAGTATATATAT ACTTATATAAGTATATATATAAGTATATATATACTTATATAAGTATATAT ATAAGTATATATATACTTATATAAGTATATATATAAGTATATATATACTT ATATAAGTATATATATAAGTATATAT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(297): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	160	0.0063	304	c.186 others(321): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(297): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCC CCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCC CCCCT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	160	0.0063	304	c.186 others(321): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC CTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCC TTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCG TCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(297): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	137	0.0073	304	c.222 others(323): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF3_chr19_1604292_1657615	1627878	G G	GGGGGTGA others(297): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGG AAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0022 a0001c0005t0009g0022	1	305	0.0033	304	c.299 others(319): Show c.299-453_299-452insGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGGT others(297): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCGCAGGGGGTGAGG CGGAAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCA GAGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG00642.hp2 HG01070.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0052 a0002c0001t0016g0266 a0002c0001t0016g0052 a0002c0001t0016g0266	2	314	0.0064	304	c.299 others(321): Show c.299-1274_299-1273insAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGCGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTG CTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628972	G G	GGGGGTGA others(297): Show GGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	344	0.0029	304	c.299 others(321): Show c.299-1547_299-1546insGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCC CATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCAC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCTTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629046	A A	AGGCGGGA others(297): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGAC AGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	302	0.0033	304	c.299 others(321): Show c.299-1621_299-1620insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCCCACCCCGT GAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(297): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGG GAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAG CTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0085 a0002c0001t0007g0085	1	299	0.0033	304	c.299 others(321): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCT CTGCTGTCCCCTTCCTGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623779	T T	TATACACA others(297): Show TATACACACATATATATACACACATATATATACACACATATATACACATA TATACACACATATGTATACATATATACACACACATATGTATACATATATA CACACACACACGTATACATATACACACACACACGTATACATATATACACA CACACACGTATACATATATACACACACACATATGTATACATATATACACA CACATATGTATACATATATACACACACACATATGTATACATATATACACA CACATATATGTATACATATATACACACACATATATGTATACATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0200 a0003c0003t0004g0201 a0003c0003t0004g0200 a0003c0003t0004g0201	2	455	0.0044	304	c.122 others(321): Show c.1222+699_1222+700insCACACATATATATACACACATATATATA CACACATATATACACATATATACACACATATGTATACATATATACACACA CATATGTATACATATATACACACACACACGTATACATATACACACACACA CGTATACATATATACACACACACACGTATACATATATACACACACACATA TGTATACATATATACACACACATATGTATACATATATACACACACACATA TGTATACATATATACACACACATATATGTATACATATATACACACACATA TATGTATACATATATACACACACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(297): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19057.hp1 NA18977.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0316 a0001c0001t0001g0317	2	358	0.0056	304	c.228 others(323): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGG GTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THSD7B_chr2_136760545_137682718	137502222	T T	TTATCTTT others(297): Show TTATCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01167.hp2 others(11): Show HG00735.hp1 HG00735.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG02056.hp2 HG02257.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03540.hp1 NA18906.hp1 NA18993.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0021	a0001c0001 a0001c0004 a0002c0030 others(7): Show a0001c0001 a0001c0004 a0002c0030 a0003c0002 a0003c0025 a0003c0040 a0004c0007 a0006c0011 a0006c0032 a0021c0041	a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 others(10): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0006 a0002c0030t0004 a0003c0002t0006 a0003c0002t0009 a0003c0002t0015 a0003c0025t0001 a0003c0040t0011 a0004c0007t0008 a0006c0011t0005 a0006c0032t0004 a0021c0041t0007	a0001c0001t0001g0027 a0001c0004t0002g0039 a0001c0004t0006g0023 others(11): Show a0001c0001t0001g0027 a0001c0004t0002g0039 a0001c0004t0006g0023 a0002c0030t0004g0051 a0003c0002t0006g0066 a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0025t0001g0006 a0003c0040t0011g0082 a0004c0007t0008g0048 a0004c0007t0008g0049 a0006c0011t0005g0096 a0006c0032t0004g0036 a0021c0041t0007g0007	14	96	0.1458	304	c.313 others(325): Show c.3138+51205_3138+51206insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTATCTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCTGGGGT others(297): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0275 a0002c0002t0065g0275	1	267	0.0037	304	c.189 others(319): Show c.189-554_189-553insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM131_chr2_97751336_98000948	97965683	T T	TAAAAATT others(297): Show TAAAAATTTCCTGGCCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01975.hp1 HG01978.hp2 others(2): Show HG00642.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 others(2): Show a0002c0003t0004g0183 a0002c0003t0004g0184 a0002c0003t0004g0185 a0002c0003t0004g0186 a0002c0003t0004g0189	5	199	0.0251	304	c.187 others(323): Show c.187+29792_187+29793insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCGGGCCAGGAAATTTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	1/40			chr2	TogoVar

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