Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
KRTAP9-1_chr17_41184887_41195639	41190152	CCTGCTGT others(8): Show CCTGCTGTGGGTCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18944.hp2 NA18942.hp1 NA18944.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0000 a0006c0005t0001g0000	2	460	0.0044	-15	c.276 others(22): Show c.276_290delGTCCAGCTGCTGTGG	p.Ser others(11): Show p.Ser93_Gly97del	KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding	1/1	276/753	276/753	92/250		INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41238458	AGACCACC others(8): Show AGACCACCTGCTGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(75): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG03195.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp2 NA18976.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	78	435	0.1793	-15	c.414 others(22): Show c.414_428delCTGCTGCAGGACCAC	p.Cys others(13): Show p.Cys139_Thr143del	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding	1/1	467/1006	414/480	138/159		INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTCAP3_chr2_27437381_27449297	27439995	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02257.hp2 others(11): Show HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0003t0001 a0003c0006t0001 a0001c0001t0001 a0001c0003t0001 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0003t0001g0002 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0003t0001g0002 a0003c0006t0001g0002	14	286	0.0490	-15	c.-24 others(26): Show c.-2417_-2403delTTTTTTTTTTTTTTT		KRTCAP3	ENSG00000157992.12	transcript	ENST00000288873.7	protein_coding					2385		chr2	TogoVar
KSR1_chr17_27451448_27631435	27579878	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0222 a0003c0008t0011g0222	1	246	0.0041	-15	c.520 others(32): Show c.520+2258_520+2272delAAAAAAAAAAAAAAA		KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117793755	CCAACATG others(8): Show CCAACATGCACACATG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0141 a0001c0003t0005g0141	1	196	0.0051	-15	c.473 others(34): Show c.473-32246_473-32232delCATGTGTGCATGTTG		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117861378	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02280.hp2 HG02622.hp2 others(2): Show HG02074.hp2 HG02280.hp2 HG02622.hp2 NA19030.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0064 a0001c0003t0015 others(2): Show a0001c0001t0002 a0001c0001t0064 a0001c0003t0015 a0001c0003t0110 a0001c0003t0141	a0001c0001t0002g0127 a0001c0001t0064g0058 a0001c0003t0015g0059 others(2): Show a0001c0001t0002g0127 a0001c0001t0064g0058 a0001c0003t0015g0059 a0001c0003t0110g0130 a0001c0003t0141g0181	5	196	0.0255	-15	c.181 others(30): Show c.181-962_181-948delAAAAAAAAAAAAAAA		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117924710	TGTGGGGA others(8): Show TGTGGGGAAGAGGGAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0151 a0001c0001t0095g0151	1	196	0.0051	-15	c.180 others(34): Show c.180+43351_180+43365delCTCCCTCTTCCCCAC		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117936521	TTATTATT others(8): Show TTATTATTATTATTAG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0147 a0001c0001t0018g0147	1	196	0.0051	-15	c.180 others(34): Show c.180+31540_180+31554delCTAATAATAATAATA		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117936527	TTATTATT others(8): Show TTATTATTAGTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0119 a0001c0001t0081 a0001c0001t0119	a0001c0001t0081g0062 a0001c0001t0119g0150 a0001c0001t0081g0062 a0001c0001t0119g0150	2	196	0.0102	-15	c.180 others(34): Show c.180+31534_180+31548delCTACTACTAATAATA		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117936530	TTATTAGT others(8): Show TTATTAGTAGTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0057 a0001c0009t0057	a0001c0009t0057g0042 a0001c0009t0057g0042	1	196	0.0051	-15	c.180 others(34): Show c.180+31531_180+31545delCTACTACTACTAATA		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	1/19						chr12	TogoVar
KTN1_chr14_55575207_55689579	55580253	TGCGGCGG others(8): Show TGCGGCGGCGGCGGCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0297 a0001c0001t0006g0297	1	314	0.0032	-15	c.-11 others(24): Show c.-119_-105delGCGGCGGCGGCGGCG		KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	1/44				31769	INFO_REALIGN_3_PRIME	chr14	TogoVar
KTN1_chr14_55575207_55689579	55646460	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01243.hp2 others(5): Show HG01168.hp1 HG01169.hp1 HG01243.hp2 NA18906.hp1 NA18963.hp2 NA18971.hp1 NA18998.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0150 a0001c0001t0001g0151 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0249 a0001c0001t0001g0299	8	314	0.0255	-15	c.217 others(32): Show c.2173-440_2173-426delTCCTTTCCTTTCCTT		KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43					INFO_REALIGN_3_PRIME	chr14	TogoVar
KXD1_chr19_18552870_18574378	18559903	TCTCTCTC others(8): Show TCTCTCTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	396	0.0025	-15	c.-22 others(32): Show c.-22+2005_-22+2019delCTCTCTCTTTCTCTC		KXD1	ENSG00000105700.11	transcript	ENST00000222307.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
KYAT1_chr9_128827942_128886950	128830632	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(121): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0007 others(1): Show a0001c0001 a0002c0002 a0003c0007 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0003c0007t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0005g0087 a0002c0002t0001g0029 a0002c0002t0001g0030 a0003c0007t0001g0106 a0004c0004t0001g0052	124	326	0.3804	-15	c.29 others(26): Show c.2937_*2951delAAAAAAAAAAAAAAA		KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding					2309		chr9	TogoVar
KYAT1_chr9_128827942_128886950	128832897	AAACAACA others(8): Show AAACAACAACAACAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0007 others(2): Show a0001c0001 a0002c0002 a0003c0007 a0004c0004 a0006c0005	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0003c0007t0001 a0004c0004t0001 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0005g0087 a0002c0002t0001g0029 a0002c0002t0001g0030 a0003c0007t0001g0106 a0004c0004t0001g0052 a0006c0005t0001g0142	146	326	0.4479	-15	c.67 others(24): Show c.672_*686delGTTGTTGTTGTTGTT		KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding					44		chr9	TogoVar
KYNU_chr2_142872664_143060833	143038871	CTATCTTT others(8): Show CTATCTTTGCTCTTGA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	332	0.0030	-15	c.104 others(34): Show c.1042-1545_1042-1531delTTGATATCTTTGCTC		KYNU	ENSG00000115919.15	transcript	ENST00000264170.9	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
L1CAM_chrX_153856516_153891173	153860515	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA20300.hp1 HG03453.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0159 a0002c0008t0001g0032 a0001c0001t0001g0159 a0002c0008t0001g0032	2	283	0.0071	-15	c.21 others(26): Show c.2133_*2147delAAAGAAAGAAAGAAA		L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding					1000		chrX	TogoVar
L2HGDH_chr14_50237434_50317229	50277774	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG06807.hp2 NA18906.hp1 others(2): Show HG02280.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0019 a0001c0001t0031 a0002c0003t0052 others(1): Show a0001c0001t0019 a0001c0001t0031 a0002c0003t0052 a0002c0003t0055	a0001c0001t0019g0185 a0001c0001t0019g0186 a0001c0001t0031g0212 others(2): Show a0001c0001t0019g0185 a0001c0001t0019g0186 a0001c0001t0031g0212 a0002c0003t0052g0348 a0002c0003t0055g0349	5	360	0.0139	-15	c.738 others(30): Show c.738+731_738+745delATTATTATTATTATT		L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding	6/9						chr14	TogoVar
L3HYPDH_chr14_59467606_59489408	59469558	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02965.hp1 HG02145.hp2 HG02615.hp2 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0001 a0001c0003t0008	a0001c0003t0001g0033 a0001c0003t0008g0051 a0001c0003t0001g0033 a0001c0003t0008g0051	3	354	0.0085	-15	c.33 others(26): Show c.3392_*3406delTTTTTTTTTTTTTTT		L3HYPDH	ENSG00000126790.12	transcript	ENST00000247194.9	protein_coding					3047		chr14	TogoVar
L3MBTL3_chr6_130013581_130146438	130019977	GGCGGCGG others(8): Show GGCGGCGGCGGCGGTC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02083.hp2 HG02293.hp1 others(17): Show HG00673.hp1 HG02083.hp2 HG02293.hp1 NA18943.hp1 NA18947.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18988.hp1 NA19003.hp1 NA19005.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0001c0003t0009 a0003c0005t0001 a0001c0003t0001 a0001c0003t0009 a0003c0005t0001	a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 others(16): Show a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0009g0022 a0003c0005t0001g0001 a0003c0005t0001g0005	20	298	0.0671	-15	c.-95 others(32): Show c.-95+1327_-95+1341delTCGCGGCGGCGGCGG		L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL3_chr6_130013581_130146438	130058149	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01496.hp2 others(2): Show HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 others(2): Show a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0175 a0001c0002t0001g0179	5	298	0.0168	-15	c.759 others(30): Show c.759+665_759+679delAAAAAAAAAAAAAAA		L3MBTL3	ENSG00000198945.8	transcript	ENST00000361794.7	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
L3MBTL4_chr18_5949717_6419911	5958115	GAAGAAGA others(8): Show GAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp1 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0037 a0001c0003t0002g0056 a0001c0001t0002g0037 a0001c0003t0002g0056	2	94	0.0213	-15	c.167 others(34): Show c.1678-1743_1678-1729delTTTCTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5972892	GAGAATAG others(8): Show GAGAATAGAATAGAAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02258.hp1 HG03017.hp1 HG01081.hp1 HG02258.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0062 a0001c0001t0004g0055 a0001c0001t0006g0093 a0001c0001t0002g0062 a0001c0001t0004g0055 a0001c0001t0006g0093	3	94	0.0319	-15	c.144 others(34): Show c.1445-3345_1445-3331delATTCTATTCTATTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6004997	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	94	0.0106	-15	c.144 others(36): Show c.1445-35450_1445-35436delAAAAAAAAAAAAAAA		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	CTTTATTT others(8): Show CTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp2 HG02258.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0092 a0001c0001t0004g0055 a0001c0001t0002g0092 a0001c0001t0004g0055	2	94	0.0213	-15	c.982 others(34): Show c.982-14033_982-14019delATAAAATAAAATAAA		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18						chr18	TogoVar
LACC1_chr13_43874904_43898932	43879785	GGGCGAGG others(8): Show GGGCGAGGCGGGGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG03098.hp1 HG02258.hp1 HG02970.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	456	0.0066	-15	c.-36 others(24): Show c.-368_-354delGGCGAGGCGGGGCGA		LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding					118		chr13	TogoVar
LACTBL1_chr1_22948043_22977866	22972139	AGATGATG others(8): Show AGATGATGATGATGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0008 a0009 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0023	a0001c0001 a0002c0002 a0002c0004 others(12): Show a0001c0001 a0002c0002 a0002c0004 a0002c0029 a0004c0005 a0008c0010 a0009c0015 a0011c0013 a0013c0012 a0014c0022 a0015c0020 a0016c0026 a0017c0028 a0018c0019 a0023c0027	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(12): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0029t0001 a0004c0005t0001 a0008c0010t0001 a0009c0015t0001 a0011c0013t0001 a0013c0012t0001 a0014c0022t0001 a0015c0020t0001 a0016c0026t0001 a0017c0028t0001 a0018c0019t0001 a0023c0027t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(140): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0202 a0002c0002t0001g0214 a0002c0002t0001g0224 a0002c0004t0001g0029 a0002c0004t0001g0153 a0002c0004t0001g0165 a0002c0004t0001g0223 a0002c0029t0001g0169 a0004c0005t0001g0049 a0004c0005t0001g0204 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0209 a0004c0005t0001g0220 a0008c0010t0001g0019 a0009c0015t0001g0213 a0009c0015t0001g0215 a0011c0013t0001g0134 a0011c0013t0001g0146 a0013c0012t0001g0182 a0013c0012t0001g0222 a0014c0022t0001g0175 a0015c0020t0001g0170 a0016c0026t0001g0139 a0017c0028t0001g0168 a0018c0019t0001g0157 a0023c0027t0001g0161	217	450	0.4822	-15	c.12+ others(28): Show c.12+151_12+165delATCATCATCATCATC		LACTBL1	ENSG00000215906.9	transcript	ENST00000426928.7	protein_coding	2/7						chr1	TogoVar
LAIR2_chr19_54497831_54515687	54514555	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(119): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0007c0008 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0005c0005t0010 a0007c0008t0001 a0007c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0048 a0001c0001t0002g0118 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0003g0085 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0002c0002t0001g0019 a0005c0005t0010g0033 a0007c0008t0001g0004 a0007c0009t0003g0013	122	475	0.2568	-15	c.39 others(26): Show c.3987_*4001delTTTTTTTTTTTTTTT		LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding					3869		chr19	TogoVar
LAMA1_chr18_6936742_7122797	7074967	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01258.hp1 others(12): Show HG00544.hp1 HG00544.hp2 HG01258.hp1 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02735.hp1 HG02735.hp2 HG03041.hp1 HG03239.hp2 HG04199.hp2 NA18953.hp2 NA18981.hp2 NA18983.hp2 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0011 a0016 a0026 a0035 a0077 a0088	a0001c0002 a0001c0004 a0001c0010 others(11): Show a0001c0002 a0001c0004 a0001c0010 a0001c0170 a0001c0171 a0002c0007 a0003c0015 a0006c0205 a0011c0191 a0016c0018 a0026c0072 a0035c0182 a0077c0117 a0088c0166	a0001c0002t0002 a0001c0004t0002 a0001c0010t0002 others(11): Show a0001c0002t0002 a0001c0004t0002 a0001c0010t0002 a0001c0170t0002 a0001c0171t0002 a0002c0007t0002 a0003c0015t0002 a0006c0205t0002 a0011c0191t0001 a0016c0018t0001 a0026c0072t0002 a0035c0182t0001 a0077c0117t0001 a0088c0166t0001	a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0004t0002g0004 others(12): Show a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0004t0002g0004 a0001c0010t0002g0098 a0001c0170t0002g0111 a0001c0171t0002g0110 a0002c0007t0002g0099 a0003c0015t0002g0068 a0006c0205t0002g0089 a0011c0191t0001g0231 a0016c0018t0001g0138 a0026c0072t0002g0040 a0035c0182t0001g0133 a0077c0117t0001g0218 a0088c0166t0001g0172	15	278	0.0540	-15	c.345 others(32): Show c.345+4993_345+5007delTTTTTTTTTTTTTTT		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	3/62						chr18	TogoVar
LAMA2_chr6_128878138_129521566	129136903	ATGACCAG others(8): Show ATGACCAGTGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG02809.hp2 HG02970.hp1	a0013 a0025 a0013 a0025	a0013c0028 a0025c0057 a0013c0028 a0025c0057	a0013c0028t0003 a0025c0057t0003 a0013c0028t0003 a0025c0057t0003	a0013c0028t0003g0011 a0025c0057t0003g0043 a0013c0028t0003g0011 a0025c0057t0003g0043	2	88	0.0227	-15	c.640 others(32): Show c.640-6997_640-6983delTGACCAGTGGGAAGG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	4/64						chr6	TogoVar
LAMA2_chr6_128878138_129521566	129206083	AGGAAGGA others(8): Show AGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0005 a0005	a0005c0042 a0005c0042	a0005c0042t0002 a0005c0042t0002	a0005c0042t0002g0007 a0005c0042t0002g0007	1	88	0.0114	-15	c.178 others(36): Show c.1782+13231_1782+13245delGGAAGGAAGGGAGGG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64						chr6	TogoVar
LAMA2_chr6_128878138_129521566	129450289	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01074.hp2 others(35): Show HG00099.hp1 HG00323.hp1 HG01074.hp2 HG01192.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03688.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp1 NA18973.hp2 NA18979.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0019 a0022 a0025 a0026 a0031 a0032	a0001c0001 a0001c0011 a0001c0068 others(25): Show a0001c0001 a0001c0011 a0001c0068 a0002c0003 a0002c0004 a0002c0029 a0002c0035 a0002c0056 a0003c0018 a0003c0044 a0003c0051 a0004c0002 a0004c0020 a0004c0030 a0004c0031 a0004c0059 a0005c0015 a0005c0042 a0006c0046 a0006c0047 a0007c0007 a0008c0005 a0019c0055 a0022c0025 a0025c0057 a0026c0037 a0031c0060 a0032c0052	a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 others(28): Show a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 a0001c0068t0003 a0002c0003t0003 a0002c0003t0005 a0002c0004t0007 a0002c0029t0002 a0002c0035t0006 a0002c0056t0003 a0003c0018t0001 a0003c0044t0003 a0003c0051t0001 a0004c0002t0001 a0004c0002t0002 a0004c0020t0008 a0004c0030t0002 a0004c0031t0002 a0004c0059t0002 a0005c0015t0001 a0005c0042t0002 a0006c0046t0001 a0006c0047t0006 a0007c0007t0002 a0008c0005t0003 a0019c0055t0002 a0022c0025t0001 a0025c0057t0003 a0026c0037t0001 a0031c0060t0001 a0032c0052t0001	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0070 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0011t0001g0040 a0001c0011t0002g0003 a0001c0068t0003g0069 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0003t0005g0010 a0002c0004t0007g0024 a0002c0029t0002g0064 a0002c0035t0006g0028 a0002c0056t0003g0077 a0003c0018t0001g0032 a0003c0044t0003g0020 a0003c0051t0001g0008 a0004c0002t0001g0065 a0004c0002t0002g0021 a0004c0002t0002g0083 a0004c0020t0008g0027 a0004c0030t0002g0041 a0004c0031t0002g0005 a0004c0059t0002g0078 a0005c0015t0001g0061 a0005c0042t0002g0007 a0006c0046t0001g0066 a0006c0047t0006g0026 a0007c0007t0002g0009 a0007c0007t0002g0081 a0008c0005t0003g0034 a0008c0005t0003g0035 a0019c0055t0002g0030 a0022c0025t0001g0029 a0025c0057t0003g0043 a0026c0037t0001g0063 a0031c0060t0001g0044 a0032c0052t0001g0018	38	88	0.4318	-15	c.643 others(34): Show c.6430-2664_6430-2650delTTTTGTTTTGTTTTG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	45/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129520373	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02970.hp1 others(4): Show HG02809.hp2 HG02818.hp2 HG02970.hp1 HG02970.hp2 NA18906.hp2 NA18946.hp1 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0013 a0025 a0035	a0001c0068 a0002c0035 a0006c0047 others(4): Show a0001c0068 a0002c0035 a0006c0047 a0013c0022 a0013c0028 a0025c0057 a0035c0058	a0001c0068t0003 a0002c0035t0006 a0006c0047t0006 others(4): Show a0001c0068t0003 a0002c0035t0006 a0006c0047t0006 a0013c0022t0003 a0013c0028t0003 a0025c0057t0003 a0035c0058t0009	a0001c0068t0003g0069 a0002c0035t0006g0028 a0006c0047t0006g0026 others(4): Show a0001c0068t0003g0069 a0002c0035t0006g0028 a0006c0047t0006g0026 a0013c0022t0003g0017 a0013c0028t0003g0011 a0025c0057t0003g0043 a0035c0058t0009g0004	7	88	0.0796	-15	c.40 others(26): Show c.4027_*4041delAAAAAAAAAAAAAAA		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding					3808		chr6	TogoVar
LAMA3_chr18_23684453_23960066	23695796	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03831.hp2 HG02572.hp1 HG03831.hp2	a0001 a0001	a0001c0027 a0001c0049 a0001c0027 a0001c0049	a0001c0027t0001 a0001c0049t0001 a0001c0027t0001 a0001c0049t0001	a0001c0027t0001g0159 a0001c0049t0001g0111 a0001c0027t0001g0159 a0001c0049t0001g0111	2	280	0.0071	-15	c.294 others(32): Show c.294+5845_294+5859delAAAAAAAAAAAAAAA		LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	1/74					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA4_chr6_112102931_112259567	112190923	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0061 a0008c0015t0001g0061	1	314	0.0032	-15	c.718 others(30): Show c.718+698_718+712delAAAGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190927	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0130 a0001c0005t0001g0130	1	314	0.0032	-15	c.718 others(30): Show c.718+694_718+708delAAAGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321253	CCAGTGGA others(8): Show CCAGTGGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp1 HG01243.hp1 NA18522.hp1	a0042 a0090 a0042 a0090	a0042c0050 a0090c0029 a0042c0050 a0090c0029	a0042c0050t0001 a0090c0029t0001 a0042c0050t0001 a0090c0029t0001	a0042c0050t0001g0060 a0090c0029t0001g0180 a0042c0050t0001g0060 a0090c0029t0001g0180	2	186	0.0108	-15	c.649 others(32): Show c.6497-378_6497-364delACCCTGCCTCCACTG		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62329365	GCAGCCCA others(8): Show GCAGCCCAGCCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00741.hp2 others(25): Show HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG02040.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03017.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04115.hp2 NA18970.hp2 NA19012.hp1 NA19240.hp2 NA20129.hp2	a0007 a0008 a0013 others(17): Show a0007 a0008 a0013 a0015 a0024 a0035 a0036 a0037 a0039 a0053 a0070 a0072 a0073 a0074 a0075 a0079 a0080 a0089 a0097 a0099	a0007c0006 a0008c0014 a0008c0043 others(20): Show a0007c0006 a0008c0014 a0008c0043 a0013c0009 a0015c0035 a0015c0074 a0024c0041 a0024c0054 a0035c0037 a0036c0038 a0037c0134 a0039c0033 a0053c0076 a0070c0073 a0072c0039 a0073c0080 a0074c0040 a0075c0124 a0079c0079 a0080c0042 a0089c0034 a0097c0075 a0099c0078	a0007c0006t0003 a0008c0014t0001 a0008c0043t0001 others(20): Show a0007c0006t0003 a0008c0014t0001 a0008c0043t0001 a0013c0009t0001 a0015c0035t0001 a0015c0074t0001 a0024c0041t0001 a0024c0054t0001 a0035c0037t0001 a0036c0038t0001 a0037c0134t0001 a0039c0033t0003 a0053c0076t0001 a0070c0073t0001 a0072c0039t0001 a0073c0080t0001 a0074c0040t0001 a0075c0124t0001 a0079c0079t0001 a0080c0042t0001 a0089c0034t0001 a0097c0075t0001 a0099c0078t0001	a0007c0006t0003g0183 a0007c0006t0003g0184 a0007c0006t0003g0185 others(25): Show a0007c0006t0003g0183 a0007c0006t0003g0184 a0007c0006t0003g0185 a0008c0014t0001g0170 a0008c0014t0001g0176 a0008c0043t0001g0173 a0013c0009t0001g0114 a0013c0009t0001g0135 a0013c0009t0001g0136 a0015c0035t0001g0174 a0015c0074t0001g0134 a0024c0041t0001g0020 a0024c0054t0001g0059 a0035c0037t0001g0172 a0036c0038t0001g0171 a0037c0134t0001g0056 a0039c0033t0003g0182 a0053c0076t0001g0160 a0070c0073t0001g0016 a0072c0039t0001g0022 a0073c0080t0001g0054 a0074c0040t0001g0023 a0075c0124t0001g0083 a0079c0079t0001g0053 a0080c0042t0001g0021 a0089c0034t0001g0175 a0097c0075t0001g0120 a0099c0078t0001g0055	28	186	0.1505	-15	c.412 others(32): Show c.4120-127_4120-113delGGCTGGGCTGGGCTG		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	32/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62371430	CACCTGGG others(8): Show CACCTGGGGGGTTTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0067 a0067	a0067c0133 a0067c0133	a0067c0133t0001 a0067c0133t0001	a0067c0133t0001g0057 a0067c0133t0001g0057	1	186	0.0054	-15	c.-42 others(26): Show c.-4200_-4186delTGAAACCCCCCAGGT		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding					4119		chr20	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG01069.hp2 others(13): Show HG00323.hp1 HG00423.hp1 HG01069.hp2 HG01074.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG02083.hp1 HG02293.hp1 HG02293.hp2 HG03130.hp1 NA18962.hp1 NA18962.hp2 NA18982.hp1 NA19000.hp2 NA19002.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0012 a0014	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0012 a0006c0010 a0012c0014 a0014c0017	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0012t0001 a0006c0010t0002 a0012c0014t0001 a0014c0017t0001	a0001c0001t0001g0013 a0001c0001t0001g0168 a0001c0001t0001g0252 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0168 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0002t0001g0029 a0001c0002t0001g0081 a0001c0006t0001g0142 a0002c0012t0001g0159 a0006c0010t0002g0290 a0012c0014t0001g0224 a0014c0017t0001g0070	16	292	0.0548	-15	c.447 others(32): Show c.4471+192_4471+206delAAAAAAAAAAAAAAA		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33						chr7	TogoVar
LAMB4_chr7_108018553_108135361	108127175	GTTTTTTT others(8): Show GTTTTTTTTTTTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(63): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18957.hp1 NA18962.hp1 NA18972.hp1 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19076.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0013 others(2): Show a0001 a0005 a0013 a0014 a0038	a0001c0001 a0001c0002 a0001c0052 others(4): Show a0001c0001 a0001c0002 a0001c0052 a0005c0023 a0013c0058 a0014c0017 a0038c0053	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0052t0003 a0005c0023t0002 a0013c0058t0002 a0014c0017t0001 a0038c0053t0001	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 others(63): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0031 a0001c0002t0003g0034 a0001c0002t0003g0046 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0058 a0001c0002t0003g0073 a0001c0002t0003g0078 a0001c0052t0003g0072 a0005c0023t0002g0027 a0013c0058t0002g0057 a0014c0017t0001g0070 a0014c0017t0001g0071 a0038c0053t0001g0074	66	292	0.2260	-15	c.-34 others(32): Show c.-34+3116_-34+3130delACACAAAAAAAAAAA		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	1/33						chr7	TogoVar
LAMC1_chr1_183018420_183150592	183023093	CCTCCCCT others(8): Show CCTCCCCTCCTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0187	1	308	0.0033	-15	c.-62 others(24): Show c.-623_-609delCTCCCCTCCTCTCCT		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					326		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183058549	CTTAAAGG others(8): Show CTTAAAGGATTCAGGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp1 HG02622.hp1 others(8): Show HG01069.hp2 HG01884.hp1 HG02622.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp2 NA19043.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0011 a0003c0004t0012 others(2): Show a0003c0004t0007 a0003c0004t0011 a0003c0004t0012 a0003c0004t0027 a0003c0004t0028	a0003c0004t0007g0239 a0003c0004t0007g0240 a0003c0004t0007g0241 others(8): Show a0003c0004t0007g0239 a0003c0004t0007g0240 a0003c0004t0007g0241 a0003c0004t0007g0242 a0003c0004t0007g0247 a0003c0004t0011g0234 a0003c0004t0011g0235 a0003c0004t0012g0237 a0003c0004t0012g0238 a0003c0004t0027g0248 a0003c0004t0028g0236	11	308	0.0357	-15	c.418 others(34): Show c.418+34420_418+34434delAGGATTCAGGTTTAA		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131077676	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0050 a0050	a0050c0106 a0050c0106	a0050c0106t0025 a0050c0106t0025	a0050c0106t0025g0001 a0050c0106t0025g0001	1	360	0.0028	-15	c.377 others(32): Show c.3777+365_3777+379delAAAAAAAAAAAAAAA		LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	22/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113293652	ATTATATT others(8): Show ATTATATTATTCTACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA19240.hp2 HG01243.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0047 a0004c0004t0004g0048 a0004c0004t0004g0047 a0004c0004t0004g0048	2	354	0.0057	-15	c.-37 others(26): Show c.-3782_-3768delTTATATTATTCTACT		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding					3586		chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301639	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	354	0.0028	-15	c.61+ others(30): Show c.61+4146_61+4160delAAAAATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149563	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19088.hp2 HG03453.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0122 a0001c0001t0001g0138	2	372	0.0054	-15	c.888 others(32): Show c.888+2797_888+2811delATATTTTTTTTTTTT		LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5						chr3	TogoVar
LAPTM4B_chr8_97770788_97858013	97774991	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG02486.hp2 others(9): Show HG01081.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0028	a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 others(9): Show a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0005g0361 a0001c0001t0006g0365 a0001c0001t0008g0362 a0001c0001t0028g0363	12	380	0.0316	-15	c.-10 others(26): Show c.-1018_-1004delAAAAAAAAAAAAAAA		LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding					796		chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97804792	ACTGGCCT others(8): Show ACTGGCCTGGCCTGGC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	380	0.0026	-15	c.100 others(30): Show c.100-546_100-532delCCTGGCCTGGCCTGG		LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97845896	CCCCTCCC others(8): Show CCCCTCCCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	380	0.0026	-15	c.604 others(32): Show c.604-5499_604-5485delCCTCCCCTTCCCTTC		LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr8	TogoVar

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